A microglia clonal inflammatory disorder in Alzheimer’s disease

Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have investigated its role in neurodegenerative processes such as Alzheimer’s disease (AD). Here, we report the selective enrichment of microglia clones...

Celý popis

Uložené v:

Podrobná bibliografia
Vydané v:	eLife Ročník 13; číslo 2
Hlavní autori:	Vicario, Rocio, Fragkogianni, Stamatina, Weber, Leslie, Lazarov, Tomi, Hu, Yang, Hayashi, Samantha Y, Craddock, Barbara, Socci, Nicholas D, Alberdi, Araitz, Baako, Ann, Ay, Oyku, Ogishi, Masato, Lopez-Rodrigo, Estibaliz, Kappagantula, Rajya, Viale, Agnes, Iacobuzio-Donahue, Christine A, Zhou, Ting, Ransohoff, Richard M, Chesworth, Richard, Abdel-Wahab, Omar, Boisson, Bertrand, Elemento, Olivier, Casanova, Jean-Laurent, Miller, W Todd, Geissmann, Frédéric
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England eLife Sciences Publications Ltd 14.03.2025 eLife Sciences Publication
Predmet:	Aged Alzheimer Disease - genetics Alzheimer Disease - pathology Alzheimer's disease Animals Blood cells Brain Brain injury Cell death Cloning Female Flow cytometry Genetic testing Humans Inflammation - pathology Inflammatory diseases Life Sciences Male MAP kinase Mice Microglia Microglia - metabolism Microglia - pathology Mutation Neurodegeneration Neurodegenerative diseases Neuronal-glial interactions somatic mutations Stromal cells Tissues somatic mutations inflammation neuroscience map kinase Alzheimer's disease human immunology microglia
ISSN:	2050-084X, 2050-084X
On-line prístup:	Získať plný text
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!

Abstract	Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have investigated its role in neurodegenerative processes such as Alzheimer’s disease (AD). Here, we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present in neuronal, glia/stromal cells, or blood, from patients with AD in comparison to age-matched controls. Notably, microglia-specific AD-associated variants preferentially target the MAPK pathway, including recurrent CBL ring-domain mutations. These variants activate ERK and drive a microglia transcriptional program characterized by a strong neuro-inflammatory response, both in vitro and in patients. Although the natural history of AD-associated microglial clones is difficult to establish in humans, microglial expression of a MAPK pathway activating variant was previously shown to cause neurodegeneration in mice, suggesting that AD-associated neuroinflammatory microglial clones may contribute to the neurodegenerative process in patients. Around 10% of people aged over 65 are estimated to have Alzheimer’s disease. This progressive neurodegenerative condition leads to death of brain cells, memory loss, confusion and other life-altering symptoms. Somatic mutations are changes in the genetic information of a cell other than sperm or eggs, which can result in alterations in gene function. As the mutant cells multiply, they form clones that also carry these changes – potentially resulting in groups of cells that behave differently from those in which those mutations are absent. Despite their importance, the role of somatic mutations in Alzheimer’s disease remains poorly understood. To investigate this question, Vicario, Fragkogianni, Weber, Lazarov et al. examined the genetic material of brain and blood cells obtained from individuals who had died either of Alzheimer’s disease, or of other causes. The team focused their analysis on around 700 genes previously associated with neurodegenerative conditions. The results showed that, compared to individuals whose death was not due to neurological illnesses, harmful variants of those genes were present in higher numbers in the microglia cells of around 25% of Alzheimer’s patients in their series. No such increase was detected in other blood or brain cell populations, regardless of the individuals’ cause of death. Microglia are cells tasked with helping to repair damage and fight off infections in the brain. Many of the harmful gene variants found in this population switched on a cell pathway known as the MAP Kinase pathway, which activated the cells and caused them to multiply. This, in turn, led to inflammation and may contribute to the death of neurons. Together these findings indicate that developing a new class of therapeutics that inhibits the MAP Kinase pathway in microglia may help prevent irreversible brain damage in some patients with Alzheimer’s disease.
AbstractList	Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have investigated its role in neurodegenerative processes such as Alzheimer’s disease (AD). Here, we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present in neuronal, glia/stromal cells, or blood, from patients with AD in comparison to age-matched controls. Notably, microglia-specific AD-associated variants preferentially target the MAPK pathway, including recurrent CBL ring-domain mutations. These variants activate ERK and drive a microglia transcriptional program characterized by a strong neuro-inflammatory response, both in vitro and in patients. Although the natural history of AD-associated microglial clones is difficult to establish in humans, microglial expression of a MAPK pathway activating variant was previously shown to cause neurodegeneration in mice, suggesting that AD-associated neuroinflammatory microglial clones may contribute to the neurodegenerative process in patients. Around 10% of people aged over 65 are estimated to have Alzheimer’s disease. This progressive neurodegenerative condition leads to death of brain cells, memory loss, confusion and other life-altering symptoms. Somatic mutations are changes in the genetic information of a cell other than sperm or eggs, which can result in alterations in gene function. As the mutant cells multiply, they form clones that also carry these changes – potentially resulting in groups of cells that behave differently from those in which those mutations are absent. Despite their importance, the role of somatic mutations in Alzheimer’s disease remains poorly understood. To investigate this question, Vicario, Fragkogianni, Weber, Lazarov et al. examined the genetic material of brain and blood cells obtained from individuals who had died either of Alzheimer’s disease, or of other causes. The team focused their analysis on around 700 genes previously associated with neurodegenerative conditions. The results showed that, compared to individuals whose death was not due to neurological illnesses, harmful variants of those genes were present in higher numbers in the microglia cells of around 25% of Alzheimer’s patients in their series. No such increase was detected in other blood or brain cell populations, regardless of the individuals’ cause of death. Microglia are cells tasked with helping to repair damage and fight off infections in the brain. Many of the harmful gene variants found in this population switched on a cell pathway known as the MAP Kinase pathway, which activated the cells and caused them to multiply. This, in turn, led to inflammation and may contribute to the death of neurons. Together these findings indicate that developing a new class of therapeutics that inhibits the MAP Kinase pathway in microglia may help prevent irreversible brain damage in some patients with Alzheimer’s disease. Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have investigated its role in neurodegenerative processes such as Alzheimer’s disease (AD). Here, we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present in neuronal, glia/stromal cells, or blood, from patients with AD in comparison to age-matched controls. Notably, microglia-specific AD-associated variants preferentially target the MAPK pathway, including recurrent CBL ring-domain mutations. These variants activate ERK and drive a microglia transcriptional program characterized by a strong neuro-inflammatory response, both in vitro and in patients. Although the natural history of AD-associated microglial clones is difficult to establish in humans, microglial expression of a MAPK pathway activating variant was previously shown to cause neurodegeneration in mice, suggesting that AD-associated neuroinflammatory microglial clones may contribute to the neurodegenerative process in patients. Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have investigated its role in neurodegenerative processes such as Alzheimer's disease (AD). Here, we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present in neuronal, glia/stromal cells, or blood, from patients with AD in comparison to age-matched controls. Notably, microglia-specific AD-associated variants preferentially target the MAPK pathway, including recurrent CBL ring-domain mutations. These variants activate ERK and drive a microglia transcriptional program characterized by a strong neuro-inflammatory response, both in vitro and in patients. Although the natural history of AD-associated microglial clones is difficult to establish in humans, microglial expression of a MAPK pathway activating variant was previously shown to cause neurodegeneration in mice, suggesting that AD-associated neuroinflammatory microglial clones may contribute to the neurodegenerative process in patients.Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have investigated its role in neurodegenerative processes such as Alzheimer's disease (AD). Here, we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present in neuronal, glia/stromal cells, or blood, from patients with AD in comparison to age-matched controls. Notably, microglia-specific AD-associated variants preferentially target the MAPK pathway, including recurrent CBL ring-domain mutations. These variants activate ERK and drive a microglia transcriptional program characterized by a strong neuro-inflammatory response, both in vitro and in patients. Although the natural history of AD-associated microglial clones is difficult to establish in humans, microglial expression of a MAPK pathway activating variant was previously shown to cause neurodegeneration in mice, suggesting that AD-associated neuroinflammatory microglial clones may contribute to the neurodegenerative process in patients.
Author	Ogishi, Masato Baako, Ann Lazarov, Tomi Chesworth, Richard Hayashi, Samantha Y Zhou, Ting Hu, Yang Miller, W Todd Socci, Nicholas D Geissmann, Frédéric Ransohoff, Richard M Elemento, Olivier Vicario, Rocio Boisson, Bertrand Kappagantula, Rajya Fragkogianni, Stamatina Abdel-Wahab, Omar Alberdi, Araitz Weber, Leslie Viale, Agnes Craddock, Barbara Casanova, Jean-Laurent Lopez-Rodrigo, Estibaliz Ay, Oyku Iacobuzio-Donahue, Christine A
AuthorAffiliation	Netherlands Brain Bank, Amsterdam, Netherlands
AuthorAffiliation_xml	– name: Netherlands Brain Bank, Amsterdam, Netherlands
Author_xml	– sequence: 1 givenname: Rocio orcidid: 0000-0002-7894-5261 surname: Vicario fullname: Vicario, Rocio – sequence: 2 givenname: Stamatina surname: Fragkogianni fullname: Fragkogianni, Stamatina – sequence: 3 givenname: Leslie surname: Weber fullname: Weber, Leslie – sequence: 4 givenname: Tomi orcidid: 0000-0002-6312-0080 surname: Lazarov fullname: Lazarov, Tomi – sequence: 5 givenname: Yang surname: Hu fullname: Hu, Yang – sequence: 6 givenname: Samantha Y surname: Hayashi fullname: Hayashi, Samantha Y – sequence: 7 givenname: Barbara surname: Craddock fullname: Craddock, Barbara – sequence: 8 givenname: Nicholas D surname: Socci fullname: Socci, Nicholas D – sequence: 9 givenname: Araitz surname: Alberdi fullname: Alberdi, Araitz – sequence: 10 givenname: Ann surname: Baako fullname: Baako, Ann – sequence: 11 givenname: Oyku surname: Ay fullname: Ay, Oyku – sequence: 12 givenname: Masato surname: Ogishi fullname: Ogishi, Masato – sequence: 13 givenname: Estibaliz surname: Lopez-Rodrigo fullname: Lopez-Rodrigo, Estibaliz – sequence: 14 givenname: Rajya surname: Kappagantula fullname: Kappagantula, Rajya – sequence: 15 givenname: Agnes surname: Viale fullname: Viale, Agnes – sequence: 16 givenname: Christine A surname: Iacobuzio-Donahue fullname: Iacobuzio-Donahue, Christine A – sequence: 17 givenname: Ting surname: Zhou fullname: Zhou, Ting – sequence: 18 givenname: Richard M orcidid: 0000-0003-0175-6910 surname: Ransohoff fullname: Ransohoff, Richard M – sequence: 19 givenname: Richard surname: Chesworth fullname: Chesworth, Richard – sequence: 20 givenname: Omar orcidid: 0000-0002-3907-6171 surname: Abdel-Wahab fullname: Abdel-Wahab, Omar – sequence: 21 givenname: Bertrand surname: Boisson fullname: Boisson, Bertrand – sequence: 22 givenname: Olivier surname: Elemento fullname: Elemento, Olivier – sequence: 23 givenname: Jean-Laurent surname: Casanova fullname: Casanova, Jean-Laurent – sequence: 24 givenname: W Todd surname: Miller fullname: Miller, W Todd – sequence: 25 givenname: Frédéric orcidid: 0000-0001-5029-2468 surname: Geissmann fullname: Geissmann, Frédéric
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/40085681$$D View this record in MEDLINE/PubMed https://hal.science/hal-05075783$$DView record in HAL
BookMark	eNptkUFvFCEYhompsbX25N1M4kVjtgIDA3PcNGqbbOKlB2_kG_ho2TBDhVmTevJv9O_1l8ju1kYbuUBeHt4vvO9LcjClCQl5zeipklJ8xFXweNp3kvXPyBGnki6oFt8O_jofkpNS1rQuJbRm_QtyKCjVstPsiCyXzRhsTlcxQGNjmiA2YfIRxhHmlG8bF0rKDnNVm2X8eY1hxHz_665sbxAKviLPPcSCJw_7Mbn8_Ony7Hyx-vrl4my5WthWi3nhEXDgTnY4aK17LpVwDG0vuNPo0XruOGjRoXJMOdEqpjvL5QAovBO0PSYXe1uXYG1uchgh35oEweyElK8M5DnYiGZQQ9_SftBWS2GrRce6jnHvQQ7Ko6he7_de1xD_sTpfrsxWq9EpqXT7g1X23Z69yen7BstsxlAsxggTpk0xLVM1Vqopr-jbJ-g6bXJNtFKcCi41V9uPvHmgNsOI7nH-n04q8GEP1FpKyegfEUbNtnSzK93sSq80e0LbMMMc0jRnCPG_b34DZ1-uyQ
CitedBy_id	crossref_primary_10_3389_fimmu_2025_1573174
Cites_doi	10.1016/j.cell.2018.05.060 10.1038/nmeth.3739 10.1038/sj.emboj.7600315 10.1016/j.ccell.2018.10.015 10.1093/bioinformatics/btv009 10.1074/jbc.M110.166702 10.1016/j.jalz.2011.03.005 10.1016/j.celrep.2022.111200 10.1016/j.jmb.2019.01.045 10.1038/ng.3043 10.1101/gr.176601 10.1159/000348327 10.1111/pcmr.12197 10.1371/journal.pmed.1002270 10.1038/s41586-019-1711-4 10.1126/science.aal3222 10.1200/JCO.2014.59.5728 10.1200/PO.17.00011 10.1186/s13059-017-1382-0 10.1212/wnl.34.7.939 10.1158/2159-8290.CD-16-0160 10.1007/BF00308809 10.1200/JCO.2010.34.0778 10.1038/s41591-018-0172-x 10.1016/j.immuni.2017.08.008 10.1038/ng.641 10.1007/s40142-016-0100-7 10.1001/jamaneurol.2023.0473 10.1182/blood-2018-10-844621 10.1016/j.neuron.2012.03.010 10.1186/1471-2377-8-9 10.1056/NEJMoa1211851 10.1038/s41556-019-0314-5 10.1016/j.celrep.2016.12.041 10.1073/pnas.0909343106 10.1093/bioinformatics/btf877 10.1182/blood-2007-01-066076 10.1038/s41436-018-0274-3 10.1182/blood-2008-12-194548 10.1038/nmeth.2600 10.1002/glia.23271 10.1126/science.aaa6806 10.3389/fneur.2018.00008 10.1007/s10038-005-0239-7 10.1038/376775a0 10.1038/s41591-019-0653-6 10.1093/hmg/4.6.975 10.1126/science.aan4673 10.1038/nbt.4194 10.1007/978-3-319-24277-4 10.1016/j.xpro.2020.100052 10.1038/s41467-019-09234-6 10.1016/j.canlet.2006.05.008 10.1371/journal.pone.0077819 10.1001/archneur.63.3.431 10.1126/science.aab4082 10.1016/j.trci.2018.06.014 10.1093/nar/gkn653 10.1016/j.celrep.2017.11.106 10.1038/nature13448 10.1093/nar/gkt1113 10.1126/science.aau3879 10.1101/2023.11.16.567402 10.2119/molmed.2011.00217 10.1016/0197-4580(95)00021-6 10.1002/ajmg.a.36183 10.1186/s13059-014-0550-8 10.1016/j.stemcr.2015.01.005 10.3390/ijms161024629 10.1186/1742-2094-11-111 10.1056/NEJMoa1408617 10.1126/science.7638622 10.1111/bjh.15577 10.1056/NEJMoa1211103 10.1016/j.jprot.2016.07.032 10.1158/1078-0432.CCR-13-2490 10.1189/jlb.0308171 10.1038/leu.2014.303 10.1038/nm.4333 10.1126/science.aay0793 10.1186/s13075-015-0655-9 10.1016/j.ccr.2010.01.020 10.1186/1742-2094-9-178 10.1101/gad.284323.116 10.1002/acn3.549 10.1016/j.jmoldx.2014.12.006 10.1126/science.7638621 10.1016/j.ygeno.2003.12.016 10.3324/haematol.2012.064683 10.1038/nrn3271 10.14573/altex.2009.2.83 10.1016/j.stemcr.2014.02.003 10.1093/jmcb/mju045 10.1074/jbc.M110.106161 10.1016/j.cell.2012.09.035 10.1186/s12974-021-02332-7 10.1038/s41591-023-02397-2 10.1038/353844a0 10.1038/mp.2016.184 10.1212/WNL.0b013e31828726f5 10.1016/j.ebiom.2020.102954 10.1016/j.ajhg.2013.05.021 10.1002/acn3.51014 10.1158/0008-5472.CAN-08-2754 10.1146/annurev-genom-091212-153523 10.1056/NEJMoa1709449 10.1016/j.cell.2017.05.018 10.1038/ncomms8247 10.1038/s41586-020-2316-7 10.1016/j.cell.2021.04.048 10.1158/2159-8290.CD-15-0913 10.1172/JCI133737 10.1038/leu.2011.44 10.1038/nature23672 10.1016/j.neurobiolaging.2015.06.005 10.1038/s43587-021-00123-6 10.1126/science.aal1641 10.1038/nm.3824 10.1038/leu.2013.179 10.1016/j.ccell.2018.01.021 10.1038/75556 10.1038/nmeth0410-248 10.1016/j.neuron.2014.05.041 10.1016/S1474-4422(13)70036-X 10.1016/j.biopsych.2014.05.006 10.1074/jbc.M113.475087 10.1186/1471-2105-15-293 10.1038/ng0296-144 10.1093/neuonc/noaa008 10.1182/blood-2009-01-198416 10.1146/annurev-genom-121520-081242 10.1038/nn.3584 10.1093/nar/gkn923 10.1016/j.celrep.2014.02.012 10.1093/nar/gky1055 10.1186/s40478-021-01264-w 10.1016/0165-5728(90)90073-v 10.1056/NEJMoa1409405 10.1038/ng.2892 10.1212/wnl.43.8.1467 10.1038/s41467-018-06331-w 10.1038/nn.4597 10.1101/060012 10.1038/nprot.2008.211 10.1038/srep16404 10.1523/JNEUROSCI.0774-19.2019 10.1016/S1474-4422(07)70178-3 10.1038/s41586-019-1195-2 10.1038/349704a0 10.1038/leu.2013.336 10.1002/humu.22682 10.1038/s41467-019-11000-7 10.1093/bioinformatics/btx536 10.1016/j.celrep.2017.07.004 10.1371/journal.pgen.1007370
ContentType	Journal Article
Copyright	2024, Vicario, Fragkogianni et al. 2024, Vicario, Fragkogianni et al This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use and redistribution provided that the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. Distributed under a Creative Commons Attribution 4.0 International License
Copyright_xml	– notice: 2024, Vicario, Fragkogianni et al. – notice: 2024, Vicario, Fragkogianni et al This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use and redistribution provided that the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. – notice: Distributed under a Creative Commons Attribution 4.0 International License
CorporateAuthor	Netherlands Brain Bank
CorporateAuthor_xml	– name: Netherlands Brain Bank
DBID	AAYXX CITATION CGR CUY CVF ECM EIF NPM 3V. 7X7 7XB 88E 88I 8FE 8FH 8FI 8FJ 8FK ABUWG AFKRA AZQEC BBNVY BENPR BHPHI CCPQU DWQXO FYUFA GHDGH GNUQQ HCIFZ K9. LK8 M0S M1P M2P M7P PHGZM PHGZT PIMPY PJZUB PKEHL PPXIY PQEST PQGLB PQQKQ PQUKI PRINS Q9U 7X8 1XC DOA
DOI	10.7554/eLife.96519
DatabaseName	CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed ProQuest Central (Corporate) Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) Science Database (Alumni Edition) ProQuest SciTech Collection ProQuest Natural Science Collection Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central UK/Ireland ProQuest Central Essentials Biological Science Collection ProQuest Central Natural Science Collection ProQuest One Community College ProQuest Central Korea Proquest Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student SciTech Premium Collection ProQuest Health & Medical Complete (Alumni) ProQuest Biological Science Collection Health & Medical Collection (Alumni Edition) Medical Database Science Database Biological Science Database ProQuest One Academic ProQuest One Academic (New) Publicly Available Content Database ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Applied & Life Sciences ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China ProQuest Central Basic MEDLINE - Academic Hyper Article en Ligne (HAL) DOAJ Directory of Open Access Journals
DatabaseTitle	CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Publicly Available Content Database ProQuest Central Student ProQuest One Academic Middle East (New) ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College ProQuest One Health & Nursing ProQuest Natural Science Collection ProQuest Central China ProQuest Central ProQuest One Applied & Life Sciences ProQuest Health & Medical Research Collection Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Natural Science Collection ProQuest Central Korea Health & Medical Research Collection Biological Science Collection ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest Science Journals (Alumni Edition) ProQuest Biological Science Collection ProQuest Central Basic ProQuest Science Journals ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection ProQuest Hospital Collection (Alumni) ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic
DatabaseTitleList	CrossRef Publicly Available Content Database MEDLINE - Academic MEDLINE
Database_xml	– sequence: 1 dbid: DOA name: DOAJ Directory of Open Access Journals url: https://www.doaj.org/ sourceTypes: Open Website – sequence: 2 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 3 dbid: PIMPY name: Publicly Available Content Database url: http://search.proquest.com/publiccontent sourceTypes: Aggregation Database
DeliveryMethod	fulltext_linktorsrc
Discipline	Biology
EISSN	2050-084X
ExternalDocumentID	oai_doaj_org_article_b7b9309b8c854c5ba616612ffa5b7fe4 oai:HAL:hal-05075783v1 40085681 10_7554_eLife_96519
Genre	Journal Article
GrantInformation_xml	– fundername: New York State Stem Cell Science grantid: C32559GG – fundername: NIH HHS grantid: P30 CA008748 – fundername: NIH Office of the Director grantid: 1 R01 HL138090 01 – fundername: Ludwig Center for Cancer Immunotherapy grantid: Basic and Translational Immunology Grants – fundername: NIH Office of the Director grantid: 1 R01 AI130345 01 – fundername: American Association for Cancer Research grantid: 18-40-15-VICA – fundername: NIH Office of the Director grantid: 1R01NS115715-01 – fundername: NINDS NIH HHS grantid: R01 NS115715 – fundername: NCI NIH HHS grantid: P30 CA008748 – fundername: BLRD VA grantid: I01 BX006248
GroupedDBID	53G 5VS 7X7 88E 88I 8FE 8FH 8FI 8FJ AAFWJ AAKDD AAYXX ABUWG ACGFO ACGOD ACPRK ADBBV ADRAZ AENEX AFFHD AFKRA AFPKN ALMA_UNASSIGNED_HOLDINGS AOIJS AZQEC BAWUL BBNVY BCNDV BENPR BHPHI BPHCQ BVXVI CCPQU CITATION DIK DWQXO EMOBN FYUFA GNUQQ GROUPED_DOAJ GX1 HCIFZ HMCUK HYE IAO IEA IHR INH INR ISR ITC KQ8 LK8 M1P M2P M7P M~E NQS OK1 PGMZT PHGZM PHGZT PIMPY PJZUB PPXIY PQGLB PQQKQ PROAC PSQYO RHI RNS RPM UKHRP CGR CUY CVF ECM EIF NPM PUEGO 3V. 7XB 8FK K9. M48 PKEHL PQEST PQUKI PRINS Q9U 7X8 1XC
ID	FETCH-LOGICAL-c384t-feaeb2d56eb88892574d1ec942d8efecf2d2a846e7d17d437186c25bae4fd403
IEDL.DBID	M2P
ISICitedReferencesCount	6
ISICitedReferencesURI	http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=001445526800001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
ISSN	2050-084X
IngestDate	Fri Oct 03 12:42:30 EDT 2025 Tue Oct 14 20:43:07 EDT 2025 Sat Nov 01 14:58:42 EDT 2025 Tue Oct 07 07:07:32 EDT 2025 Sun Aug 31 01:36:52 EDT 2025 Sat Nov 29 08:11:51 EST 2025 Tue Nov 18 22:40:00 EST 2025
IsDoiOpenAccess	true
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Issue	2
Keywords	somatic mutations inflammation neuroscience map kinase Alzheimer's disease human immunology microglia
Language	English
License	2024, Vicario, Fragkogianni et al. Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0
LinkModel	DirectLink
MergedId	FETCHMERGED-LOGICAL-c384t-feaeb2d56eb88892574d1ec942d8efecf2d2a846e7d17d437186c25bae4fd403
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ORCID	0000-0002-3907-6171 0000-0003-0175-6910 0000-0001-5029-2468 0000-0002-6312-0080 0000-0002-7894-5261
OpenAccessLink	https://www.proquest.com/docview/3204258270?pq-origsite=%requestingapplication%
PMID	40085681
PQID	3204258270
PQPubID	2045579
ParticipantIDs	doaj_primary_oai_doaj_org_article_b7b9309b8c854c5ba616612ffa5b7fe4 hal_primary_oai_HAL_hal_05075783v1 proquest_miscellaneous_3177480802 proquest_journals_3204258270 pubmed_primary_40085681 crossref_primary_10_7554_eLife_96519 crossref_citationtrail_10_7554_eLife_96519
PublicationCentury	2000
PublicationDate	2025-03-14
PublicationDateYYYYMMDD	2025-03-14
PublicationDate_xml	– month: 03 year: 2025 text: 2025-03-14 day: 14
PublicationDecade	2020
PublicationPlace	England
PublicationPlace_xml	– name: England – name: Cambridge
PublicationTitle	eLife
PublicationTitleAlternate	Elife
PublicationYear	2025
Publisher	eLife Sciences Publications Ltd eLife Sciences Publication
Publisher_xml	– name: eLife Sciences Publications Ltd – name: eLife Sciences Publication
References	Kouri (bib76) 2015; 6 Durham (bib34) 2019; 25 Graham (bib46) 2013; 161A Sando (bib128) 2008; 8 Huang (bib57) 2009; 37 Martincorena (bib95) 2015; 348 Dunbar (bib33) 2008; 68 Xiong (bib152) 2011; 286 Hebert (bib52) 2013; 80 Ogawa (bib113) 2019; 133 Yu (bib154) 2008; 84 Behjati (bib10) 2014; 513 Chartier-Harlin (bib25) 1991; 353 Braak (bib20) 1995; 16 Haferlach (bib50) 2014; 28 Lu (bib91) 2018; 34 Park (bib116) 2019; 10 Hao (bib51) 2021; 184 Evrony (bib35) 2012; 151 Levy-Lahad (bib84) 1995; 269 Karch (bib65) 2015; 77 Schaefer (bib131) 2009; 37 Krasemann (bib77) 2017; 47 Zannini (bib156) 2014; 6 Bardou (bib9) 2014; 15 Socci (bib141) 2025 Ng (bib108) 2018; 33 Zar (bib157) 2010 Landrum (bib81) 2014; 42 Bhatia (bib12) 2020; 22 Nalls (bib106) 2014; 46 Hadley (bib49) 2016 Niemeyer (bib109) 2010; 42 Braak (bib19) 1991; 82 Blasi (bib14) 1990; 27 Keogh (bib66) 2018; 9 McKhann (bib101) 2011; 7 Wei (bib149) 2019; 21 Scheltens (bib132) 2018; 5 Henn (bib54) 2009; 26 Héritier (bib55) 2018; 183 Bollag (bib15) 1996; 12 Lachén-Montes (bib79) 2016; 148 Renton (bib122) 2014; 17 Jonsson (bib63) 2013; 368 Guerreiro (bib48) 2013; 368 Lachmann (bib80) 2015; 4 Korotkevich (bib75) 2019 Lanoiselée (bib82) 2017; 14 Murrell (bib105) 2006; 63 Miller (bib104) 2021; 22 Grand (bib47) 2009; 113 Niihori (bib110) 2005; 50 Ou (bib115) 2021; 18 Turner (bib146) 2013; 12 Arnaud (bib5) 2022; 40 Karch (bib64) 2014; 83 Keren-Shaul (bib67) 2017; 169 Saunders (bib130) 1993; 43 Soblet (bib139) 2013; 4 Love (bib90) 2014; 15 Martincorena (bib94) 2015; 349 Rodriguez (bib124) 2014; 11 Rauen (bib120) 2013; 14 Askew (bib7) 2017; 18 Khoshkhoo (bib68) 2023; 80 Jaiswal (bib60) 2019; 366 Poduri (bib118) 2012; 74 McConnell (bib99) 2017; 356 Wolf (bib150) 2018; 19 Galatro (bib40) 2017; 20 Sargin (bib129) 2007; 110 Reiner (bib121) 2003; 19 Itan (bib58) 2016; 13 Bian (bib13) 2020; 582 Choi (bib27) 2014; 27 Mass (bib97) 2017; 549 Koh (bib74) 2018; 24 Socci (bib140) 2022 Meyer Zum Büschenfelde (bib103) 2018; 14 Jayaraman (bib62) 2021; 9 Boyd (bib18) 2020; 7 Rogaev (bib125) 1995; 376 Jaiswal (bib59) 2014; 371 Lim (bib85) 2015; 21 Smith (bib138) 2019; 21 Frank (bib39) 2010; 107 Suppl 1 Cybulski (bib29) 2011; 29 Bouzid (bib17) 2023; 29 Song (bib142) 2019; 39 Walter (bib147) 2011; 25 Brand (bib21) 2014; 35 D’Gama (bib30) 2017; 21 Alzheimer’s Association (bib2) 2019 Levy-Lahad (bib83) 1995; 269 Brownlee (bib23) 2014; 6 Scholz (bib135) 2015; 16 Chakravarty (bib24) 2017; 2017 Yang (bib153) 2016; 30 Aoki (bib4) 2013; 93 Zhong (bib159) 2020; 1 Zehir (bib158) 2017; 23 Heim (bib53) 1995; 4 Mathys (bib98) 2019; 570 McKhann (bib100) 1984; 34 Liyasova (bib88) 2015; 21 Martincorena (bib96) 2018; 362 Ashburner (bib6) 2000; 25 Azizi (bib8) 2018; 174 Kircher (bib72) 2014; 46 Coniglio (bib28) 2012; 18 Qu (bib119) 2012; 9 Martin (bib93) 2018; 23 Lindberg (bib86) 2014; 2 Zafra (bib155) 2018; 36 Thapa (bib143) 2015; 17 Kinney (bib71) 2018; 4 Perez-Pinera (bib117) 2013; 10 Anzalone (bib3) 2019; 576 Diamond (bib31) 2016; 6 Schnittger (bib133) 2012; 97 Tidyman (bib145) 2016; 4 Serrano-Pozo (bib136) 2021; 1 Fang (bib36) 2004; 23 Goate (bib43) 1991; 349 Genovese (bib41) 2014; 371 Okeyo-Owuor (bib114) 2015; 29 Kim (bib69) 2016; 6 Gosselin (bib45) 2017; 356 Liu (bib87) 2018; 9 Rogers (bib126) 2018; 34 Ward (bib148) 2010; 17 Kim (bib70) 2023 Bougeard (bib16) 2015; 33 Cheng (bib26) 2015; 17 Roy (bib127) 2020; 130 Fernandes (bib37) 2010; 285 Zhou (bib160) 2019; 10 Ferrari (bib38) 2015; 36 Adzhubei (bib1) 2010; 7 Schöll (bib134) 2015; 5 Nott (bib112) 2019; 366 Bernard (bib11) 2014; 7 Réu (bib123) 2017; 20 McQuade (bib102) 2019; 431 Huang (bib56) 2009; 4 Lumsden (bib92) 2020; 59 Xi (bib151) 2004; 83 Bras (bib22) 2012; 13 The Gene Ontology (bib144) 2019; 47 Loh (bib89) 2009; 114 Javadi (bib61) 2013; 288 Ng (bib107) 2001; 11 Ku (bib78) 2007; 247 Klampfl (bib73) 2013; 8 Ghosh (bib42) 2018; 66 Dubois (bib32) 2007; 6 Gómez-Seguí (bib44) 2013; 27 Shihab (bib137) 2015; 31 Nikolaev (bib111) 2018; 378 38328106 - bioRxiv. 2024 Aug 03:2024.01.25.577216. doi: 10.1101/2024.01.25.577216.
References_xml	– volume: 174 start-page: 1293 year: 2018 ident: bib8 article-title: Single-cell map of diverse immune phenotypes in the breast tumor microenvironment publication-title: Cell doi: 10.1016/j.cell.2018.05.060 – volume: 13 start-page: 109 year: 2016 ident: bib58 article-title: The mutation significance cutoff: gene-level thresholds for variant predictions publication-title: Nature Methods doi: 10.1038/nmeth.3739 – volume: 23 start-page: 3164 year: 2004 ident: bib36 article-title: ATR functions as a gene dosage-dependent tumor suppressor on a mismatch repair-deficient background publication-title: The EMBO Journal doi: 10.1038/sj.emboj.7600315 – volume: 34 start-page: 970 year: 2018 ident: bib91 article-title: A Transcription factor addiction in leukemia imposed by the MLL promoter sequence publication-title: Cancer Cell doi: 10.1016/j.ccell.2018.10.015 – volume-title: Biostatistical Analysis year: 2010 ident: bib157 – year: 2019 ident: bib2 article-title: Alzheimer’s disease facts and figures. alzheimers dement – volume: 31 start-page: 1536 year: 2015 ident: bib137 article-title: An integrative approach to predicting the functional effects of non-coding and coding sequence variation publication-title: Bioinformatics doi: 10.1093/bioinformatics/btv009 – volume: 286 start-page: 952 year: 2011 ident: bib152 article-title: A CSF-1 receptor phosphotyrosine 559 signaling pathway regulates receptor ubiquitination and tyrosine phosphorylation publication-title: The Journal of Biological Chemistry doi: 10.1074/jbc.M110.166702 – volume: 7 start-page: 263 year: 2011 ident: bib101 article-title: The diagnosis of dementia due to Alzheimer’s disease: recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease publication-title: Alzheimer’s & Dementia doi: 10.1016/j.jalz.2011.03.005 – volume: 40 year: 2022 ident: bib5 article-title: APOE4 drives inflammation in human astrocytes via TAGLN3 repression and NF-κB activation publication-title: Cell Reports doi: 10.1016/j.celrep.2022.111200 – volume: 431 start-page: 1805 year: 2019 ident: bib102 article-title: Microglia in alzheimer’s disease: exploring how genetics and phenotype influence risk publication-title: Journal of Molecular Biology doi: 10.1016/j.jmb.2019.01.045 – volume: 46 start-page: 989 year: 2014 ident: bib106 article-title: Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease publication-title: Nature Genetics doi: 10.1038/ng.3043 – volume: 11 start-page: 863 year: 2001 ident: bib107 article-title: Predicting deleterious amino acid substitutions publication-title: Genome Research doi: 10.1101/gr.176601 – volume: 4 start-page: 179 year: 2013 ident: bib139 article-title: Variable somatic TIE2 mutations in half of sporadic venous malformations publication-title: Molecular Syndromology doi: 10.1159/000348327 – volume: 27 start-page: 253 year: 2014 ident: bib27 article-title: Identification of PLX4032-resistance mechanisms and implications for novel RAF inhibitors publication-title: Pigment Cell & Melanoma Research doi: 10.1111/pcmr.12197 – volume: 14 year: 2017 ident: bib82 article-title: APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: a genetic screening study of familial and sporadic cases publication-title: PLOS Medicine doi: 10.1371/journal.pmed.1002270 – volume: 576 start-page: 149 year: 2019 ident: bib3 article-title: Search-and-replace genome editing without double-strand breaks or donor DNA publication-title: Nature doi: 10.1038/s41586-019-1711-4 – volume: 356 year: 2017 ident: bib45 article-title: An environment-dependent transcriptional network specifies human microglia identity publication-title: Science doi: 10.1126/science.aal3222 – volume: 33 start-page: 2345 year: 2015 ident: bib16 article-title: Revisiting li-fraumeni syndrome from TP53 mutation carriers publication-title: Journal of Clinical Oncology doi: 10.1200/JCO.2014.59.5728 – volume: 2017 year: 2017 ident: bib24 article-title: OncoKB: a precision oncology knowledge base publication-title: JCO Precision Oncology doi: 10.1200/PO.17.00011 – volume: 19 year: 2018 ident: bib150 article-title: SCANPY: large-scale single-cell gene expression data analysis publication-title: Genome Biology doi: 10.1186/s13059-017-1382-0 – volume: 34 start-page: 939 year: 1984 ident: bib100 article-title: Clinical diagnosis of Alzheimer’s disease: report of the NINCDS-ADRDA Work group under the auspices of department of health and human services task force on Alzheimer’s disease publication-title: Neurology doi: 10.1212/wnl.34.7.939 – volume: 6 start-page: 714 year: 2016 ident: bib69 article-title: Systematic functional interrogation of rare cancer variants identifies oncogenic alleles publication-title: Cancer Discovery doi: 10.1158/2159-8290.CD-16-0160 – volume: 82 start-page: 239 year: 1991 ident: bib19 article-title: Neuropathological stageing of Alzheimer-related changes publication-title: Acta Neuropathologica doi: 10.1007/BF00308809 – volume: 29 start-page: 3747 year: 2011 ident: bib29 article-title: Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer publication-title: Journal of Clinical Oncology doi: 10.1200/JCO.2010.34.0778 – volume: 24 start-page: 1662 year: 2018 ident: bib74 article-title: BRAF somatic mutation contributes to intrinsic epileptogenicity in pediatric brain tumors publication-title: Nature Medicine doi: 10.1038/s41591-018-0172-x – volume: 47 start-page: 566 year: 2017 ident: bib77 article-title: The TREM2-APOE pathway drives the transcriptional phenotype of dysfunctional microglia in neurodegenerative diseases publication-title: Immunity doi: 10.1016/j.immuni.2017.08.008 – volume: 42 start-page: 794 year: 2010 ident: bib109 article-title: Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia publication-title: Nature Genetics doi: 10.1038/ng.641 – volume: 4 start-page: 57 year: 2016 ident: bib145 article-title: Expansion of the RASopathies publication-title: Current Genetic Medicine Reports doi: 10.1007/s40142-016-0100-7 – volume: 80 start-page: 578 year: 2023 ident: bib68 article-title: Contribution of somatic ras/raf/mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy publication-title: JAMA Neurology doi: 10.1001/jamaneurol.2023.0473 – volume: 133 start-page: 1049 year: 2019 ident: bib113 article-title: Genetics of MDS publication-title: Blood doi: 10.1182/blood-2018-10-844621 – volume: 74 start-page: 41 year: 2012 ident: bib118 article-title: Somatic activation of AKT3 causes hemispheric developmental brain malformations publication-title: Neuron doi: 10.1016/j.neuron.2012.03.010 – volume: 8 year: 2008 ident: bib128 article-title: APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer’s disease; a case control study from central Norway publication-title: BMC Neurology doi: 10.1186/1471-2377-8-9 – volume: 368 start-page: 117 year: 2013 ident: bib48 article-title: TREM2 variants in Alzheimer’s disease publication-title: The New England Journal of Medicine doi: 10.1056/NEJMoa1211851 – volume: 21 start-page: 640 year: 2019 ident: bib138 article-title: U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies publication-title: Nature Cell Biology doi: 10.1038/s41556-019-0314-5 – volume: 18 start-page: 391 year: 2017 ident: bib7 article-title: Coupled proliferation and apoptosis maintain the rapid turnover of microglia in the adult brain publication-title: Cell Reports doi: 10.1016/j.celrep.2016.12.041 – volume: 107 Suppl 1 start-page: 1725 year: 2010 ident: bib39 article-title: Evolution in health and medicine Sackler colloquium: Somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration publication-title: PNAS doi: 10.1073/pnas.0909343106 – volume: 19 start-page: 368 year: 2003 ident: bib121 article-title: Identifying differentially expressed genes using false discovery rate controlling procedures publication-title: Bioinformatics doi: 10.1093/bioinformatics/btf877 – volume: 110 start-page: 1004 year: 2007 ident: bib129 article-title: Flt3-dependent transformation by inactivating c-Cbl mutations in AML publication-title: Blood doi: 10.1182/blood-2007-01-066076 – volume: 21 start-page: 904 year: 2019 ident: bib149 article-title: Frequency and signature of somatic variants in 1461 human brain exomes publication-title: Genetics in Medicine doi: 10.1038/s41436-018-0274-3 – volume: 113 start-page: 6182 year: 2009 ident: bib47 article-title: Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms publication-title: Blood doi: 10.1182/blood-2008-12-194548 – volume: 7 start-page: 1667 year: 2014 ident: bib11 article-title: Applicability of next-generation sequencing to decalcified formalin-fixed and paraffin-embedded chronic myelomonocytic leukaemia samples publication-title: International Journal of Clinical and Experimental Pathology – volume: 10 start-page: 973 year: 2013 ident: bib117 article-title: RNA-guided gene activation by CRISPR-Cas9-based transcription factors publication-title: Nature Methods doi: 10.1038/nmeth.2600 – volume: 66 start-page: 1200 year: 2018 ident: bib42 article-title: Bioenergetic regulation of microglia publication-title: Glia doi: 10.1002/glia.23271 – volume: 348 start-page: 880 year: 2015 ident: bib95 article-title: Tumor evolution: High burden and pervasive positive selection of somatic mutations in normal human skin publication-title: Science doi: 10.1126/science.aaa6806 – volume: 9 year: 2018 ident: bib87 article-title: Microglia and CNS Interleukin-1: beyond immunological concepts publication-title: Frontiers in Neurology doi: 10.3389/fneur.2018.00008 – volume: 50 start-page: 192 year: 2005 ident: bib110 article-title: Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia publication-title: Journal of Human Genetics doi: 10.1007/s10038-005-0239-7 – volume: 376 start-page: 775 year: 1995 ident: bib125 article-title: Familial Alzheimer’s disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer’s disease type 3 gene publication-title: Nature doi: 10.1038/376775a0 – volume: 25 start-page: 1839 year: 2019 ident: bib34 article-title: Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms publication-title: Nature Medicine doi: 10.1038/s41591-019-0653-6 – volume: 4 start-page: 975 year: 1995 ident: bib53 article-title: Distribution of 13 truncating mutations in the neurofibromatosis 1 gene publication-title: Human Molecular Genetics doi: 10.1093/hmg/4.6.975 – volume: 366 year: 2019 ident: bib60 article-title: Clonal hematopoiesis in human aging and disease publication-title: Science doi: 10.1126/science.aan4673 – volume: 36 start-page: 888 year: 2018 ident: bib155 article-title: Optimized base editors enable efficient editing in cells, organoids and mice publication-title: Nature Biotechnology doi: 10.1038/nbt.4194 – volume-title: Ggplot2: Elegant Graphics for Data Analysis year: 2016 ident: bib49 doi: 10.1007/978-3-319-24277-4 – volume: 1 year: 2020 ident: bib159 article-title: Protocol for the generation of human pluripotent reporter cell lines using CRISPR/Cas9 publication-title: STAR Protocols doi: 10.1016/j.xpro.2020.100052 – volume: 10 year: 2019 ident: bib160 article-title: Metascape provides a biologist-oriented resource for the analysis of systems-level datasets publication-title: Nature Communications doi: 10.1038/s41467-019-09234-6 – volume: 247 start-page: 283 year: 2007 ident: bib78 article-title: Genetic alterations of the TGF-beta signaling pathway in colorectal cancer cell lines: a novel mutation in Smad3 associated with the inactivation of TGF-beta-induced transcriptional activation publication-title: Cancer Letters doi: 10.1016/j.canlet.2006.05.008 – volume-title: Software Heritage year: 2022 ident: bib140 article-title: BIC-variants_pipeline – volume: 8 year: 2013 ident: bib73 article-title: Complex patterns of chromosome 11 aberrations in myeloid malignancies target CBL, MLL, DDB1 and LMO2 publication-title: PLOS ONE doi: 10.1371/journal.pone.0077819 – volume: 63 start-page: 431 year: 2006 ident: bib105 article-title: Association of apolipoprotein E genotype and Alzheimer disease in African Americans publication-title: Archives of Neurology doi: 10.1001/archneur.63.3.431 – volume: 349 start-page: 1483 year: 2015 ident: bib94 article-title: Somatic mutation in cancer and normal cells publication-title: Science doi: 10.1126/science.aab4082 – volume: 4 start-page: 575 year: 2018 ident: bib71 article-title: Inflammation as a central mechanism in Alzheimer’s disease publication-title: Alzheimer’s & Dementia doi: 10.1016/j.trci.2018.06.014 – volume: 37 start-page: D674 year: 2009 ident: bib131 article-title: PID: the pathway interaction database publication-title: Nucleic Acids Research doi: 10.1093/nar/gkn653 – volume: 21 start-page: 3754 year: 2017 ident: bib30 article-title: Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias publication-title: Cell Reports doi: 10.1016/j.celrep.2017.11.106 – volume: 513 start-page: 422 year: 2014 ident: bib10 article-title: Genome sequencing of normal cells reveals developmental lineages and mutational processes publication-title: Nature doi: 10.1038/nature13448 – volume: 42 start-page: D980 year: 2014 ident: bib81 article-title: ClinVar: public archive of relationships among sequence variation and human phenotype publication-title: Nucleic Acids Research doi: 10.1093/nar/gkt1113 – volume: 362 start-page: 911 year: 2018 ident: bib96 article-title: Somatic mutant clones colonize the human esophagus with age publication-title: Science doi: 10.1126/science.aau3879 – volume-title: bioRxiv year: 2023 ident: bib70 article-title: Monocyte-Derived Microglia With doi: 10.1101/2023.11.16.567402 – volume: 18 start-page: 519 year: 2012 ident: bib28 article-title: Microglial stimulation of glioblastoma invasion involves epidermal growth factor receptor (EGFR) and colony stimulating factor 1 receptor (CSF-1R) signaling publication-title: Molecular Medicine doi: 10.2119/molmed.2011.00217 – volume: 16 start-page: 271 year: 1995 ident: bib20 article-title: Staging of Alzheimer’s disease-related neurofibrillary changes publication-title: Neurobiology of Aging doi: 10.1016/0197-4580(95)00021-6 – volume: 161A start-page: 2734 year: 2013 ident: bib46 article-title: MED12 related disorders publication-title: American Journal of Medical Genetics. Part A doi: 10.1002/ajmg.a.36183 – volume: 15 year: 2014 ident: bib90 article-title: Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 publication-title: Genome Biology doi: 10.1186/s13059-014-0550-8 – volume: 4 start-page: 282 year: 2015 ident: bib80 article-title: Large-scale hematopoietic differentiation of human induced pluripotent stem cells provides granulocytes or macrophages for cell replacement therapies publication-title: Stem Cell Reports doi: 10.1016/j.stemcr.2015.01.005 – volume: 16 start-page: 24629 year: 2015 ident: bib135 article-title: Genetics underlying atypical parkinsonism and related neurodegenerative disorders publication-title: International Journal of Molecular Sciences doi: 10.3390/ijms161024629 – volume: 11 year: 2014 ident: bib124 article-title: Human APOE4 increases microglia reactivity at Aβ plaques in A mouse model of Aβ deposition publication-title: Journal of Neuroinflammation doi: 10.1186/1742-2094-11-111 – volume: 371 start-page: 2488 year: 2014 ident: bib59 article-title: Age-related clonal hematopoiesis associated with adverse outcomes publication-title: The New England Journal of Medicine doi: 10.1056/NEJMoa1408617 – volume: 269 start-page: 973 year: 1995 ident: bib83 article-title: Candidate gene for the chromosome 1 familial Alzheimer’s disease locus publication-title: Science doi: 10.1126/science.7638622 – volume: 183 start-page: 608 year: 2018 ident: bib55 article-title: Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study publication-title: British Journal of Haematology doi: 10.1111/bjh.15577 – volume: 368 start-page: 107 year: 2013 ident: bib63 article-title: Variant of TREM2 associated with the risk of Alzheimer’s disease publication-title: The New England Journal of Medicine doi: 10.1056/NEJMoa1211103 – volume: 148 start-page: 149 year: 2016 ident: bib79 article-title: An early dysregulation of FAK and MEK/ERK signaling pathways precedes the β-amyloid deposition in the olfactory bulb of APP/PS1 mouse model of Alzheimer’s disease publication-title: Journal of Proteomics doi: 10.1016/j.jprot.2016.07.032 – volume: 21 start-page: 1789 year: 2015 ident: bib88 article-title: Molecular pathways: cbl proteins in tumorigenesis and antitumor immunity-opportunities for cancer treatment publication-title: Clinical Cancer Research doi: 10.1158/1078-0432.CCR-13-2490 – volume: 84 start-page: 852 year: 2008 ident: bib154 article-title: CSF-1 receptor structure/function in MacCsf1r-/- macrophages: regulation of proliferation, differentiation, and morphology publication-title: Journal of Leukocyte Biology doi: 10.1189/jlb.0308171 – volume: 29 start-page: 909 year: 2015 ident: bib114 article-title: U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing publication-title: Leukemia doi: 10.1038/leu.2014.303 – volume: 23 start-page: 703 year: 2017 ident: bib158 article-title: Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients publication-title: Nature Medicine doi: 10.1038/nm.4333 – volume: 366 start-page: 1134 year: 2019 ident: bib112 article-title: Brain cell type-specific enhancer-promoter interactome maps and disease-risk association publication-title: Science doi: 10.1126/science.aay0793 – volume: 17 year: 2015 ident: bib143 article-title: Longitudinal analysis of peripheral blood T cell receptor diversity in patients with systemic lupus erythematosus by next-generation sequencing publication-title: Arthritis Research & Therapy doi: 10.1186/s13075-015-0655-9 – volume: 17 start-page: 225 year: 2010 ident: bib148 article-title: The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate publication-title: Cancer Cell doi: 10.1016/j.ccr.2010.01.020 – volume-title: Software Heritage year: 2025 ident: bib141 article-title: Variant-postprocess – volume: 9 year: 2012 ident: bib119 article-title: Inhibition of EGFR/MAPK signaling reduces microglial inflammatory response and the associated secondary damage in rats after spinal cord injury publication-title: Journal of Neuroinflammation doi: 10.1186/1742-2094-9-178 – volume: 30 start-page: 1611 year: 2016 ident: bib153 article-title: Molecular basis for oncohistone H3 recognition by SETD2 methyltransferase publication-title: Genes & Development doi: 10.1101/gad.284323.116 – volume: 5 start-page: 464 year: 2018 ident: bib132 article-title: An exploratory clinical study of p38α kinase inhibition in Alzheimer’s disease publication-title: Annals of Clinical and Translational Neurology doi: 10.1002/acn3.549 – volume: 17 start-page: 251 year: 2015 ident: bib26 article-title: Memorial sloan kettering-integrated mutation profiling of actionable cancer targets (MSK-IMPACT): a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology publication-title: The Journal of Molecular Diagnostics doi: 10.1016/j.jmoldx.2014.12.006 – volume: 269 start-page: 970 year: 1995 ident: bib84 article-title: A familial Alzheimer’s disease locus on chromosome 1 publication-title: Science doi: 10.1126/science.7638621 – volume: 83 start-page: 970 year: 2004 ident: bib151 article-title: Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function publication-title: Genomics doi: 10.1016/j.ygeno.2003.12.016 – volume: 97 start-page: 1582 year: 2012 ident: bib133 article-title: Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow publication-title: Haematologica doi: 10.3324/haematol.2012.064683 – volume: 13 start-page: 453 year: 2012 ident: bib22 article-title: Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease publication-title: Nature Reviews. Neuroscience doi: 10.1038/nrn3271 – volume: 26 start-page: 83 year: 2009 ident: bib54 article-title: The suitability of BV2 cells as alternative model system for primary microglia cultures or for animal experiments examining brain inflammation publication-title: ALTEX doi: 10.14573/altex.2009.2.83 – volume: 2 start-page: 440 year: 2014 ident: bib86 article-title: Epidermal growth factor treatment of the adult brain subventricular zone leads to focal microglia/macrophage accumulation and angiogenesis publication-title: Stem Cell Reports doi: 10.1016/j.stemcr.2014.02.003 – volume: 6 start-page: 442 year: 2014 ident: bib156 article-title: CHK2 kinase in the DNA damage response and beyond publication-title: Journal of Molecular Cell Biology doi: 10.1093/jmcb/mju045 – volume: 285 start-page: 32596 year: 2010 ident: bib37 article-title: Novel oncogenic mutations of CBL in human acute myeloid leukemia that activate growth and survival pathways depend on increased metabolism publication-title: The Journal of Biological Chemistry doi: 10.1074/jbc.M110.106161 – volume: 151 start-page: 483 year: 2012 ident: bib35 article-title: Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain publication-title: Cell doi: 10.1016/j.cell.2012.09.035 – volume: 18 year: 2021 ident: bib115 article-title: Biologic TNF-α inhibitors reduce microgliosis, neuronal loss, and tau phosphorylation in a transgenic mouse model of tauopathy publication-title: Journal of Neuroinflammation doi: 10.1186/s12974-021-02332-7 – volume: 29 start-page: 1662 year: 2023 ident: bib17 article-title: Clonal hematopoiesis is associated with protection from Alzheimer’s disease publication-title: Nature Medicine doi: 10.1038/s41591-023-02397-2 – volume: 353 start-page: 844 year: 1991 ident: bib25 article-title: Early-onset Alzheimer’s disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene publication-title: Nature doi: 10.1038/353844a0 – volume: 23 start-page: 467 year: 2018 ident: bib93 article-title: DIXDC1 contributes to psychiatric susceptibility by regulating dendritic spine and glutamatergic synapse density via GSK3 and Wnt/β-catenin signaling publication-title: Molecular Psychiatry doi: 10.1038/mp.2016.184 – volume: 80 start-page: 1778 year: 2013 ident: bib52 article-title: Alzheimer disease in the United States (2010-2050) estimated using the 2010 census publication-title: Neurology doi: 10.1212/WNL.0b013e31828726f5 – volume: 59 year: 2020 ident: bib92 article-title: Apolipoprotein E (APOE) genotype-associated disease risks: a phenome-wide, registry-based, case-control study utilising the UK Biobank publication-title: EBioMedicine doi: 10.1016/j.ebiom.2020.102954 – volume: 93 start-page: 173 year: 2013 ident: bib4 article-title: Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome publication-title: American Journal of Human Genetics doi: 10.1016/j.ajhg.2013.05.021 – volume: 7 start-page: 497 year: 2020 ident: bib18 article-title: Neurological manifestations of Erdheim-chester disease publication-title: Annals of Clinical and Translational Neurology doi: 10.1002/acn3.51014 – volume: 68 start-page: 10349 year: 2008 ident: bib33 article-title: 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies publication-title: Cancer Research doi: 10.1158/0008-5472.CAN-08-2754 – volume: 14 start-page: 355 year: 2013 ident: bib120 article-title: The RASopathies publication-title: Annual Review of Genomics and Human Genetics doi: 10.1146/annurev-genom-091212-153523 – volume: 378 start-page: 250 year: 2018 ident: bib111 article-title: Somatic activating KRAS mutations in arteriovenous malformations of the brain publication-title: The New England Journal of Medicine doi: 10.1056/NEJMoa1709449 – volume: 169 start-page: 1276 year: 2017 ident: bib67 article-title: A unique microglia type associated with restricting development of Alzheimer’s disease publication-title: Cell doi: 10.1016/j.cell.2017.05.018 – volume: 6 year: 2015 ident: bib76 article-title: Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy publication-title: Nature Communications doi: 10.1038/ncomms8247 – volume: 582 start-page: 571 year: 2020 ident: bib13 article-title: Deciphering human macrophage development at single-cell resolution publication-title: Nature doi: 10.1038/s41586-020-2316-7 – volume: 184 start-page: 3573 year: 2021 ident: bib51 article-title: Integrated analysis of multimodal single-cell data publication-title: Cell doi: 10.1016/j.cell.2021.04.048 – volume: 6 start-page: 154 year: 2016 ident: bib31 article-title: Diverse and targetable kinase alterations drive histiocytic neoplasms publication-title: Cancer Discovery doi: 10.1158/2159-8290.CD-15-0913 – volume: 130 start-page: 1912 year: 2020 ident: bib127 article-title: Type I interferon response drives neuroinflammation and synapse loss in Alzheimer disease publication-title: The Journal of Clinical Investigation doi: 10.1172/JCI133737 – volume: 25 start-page: 1153 year: 2011 ident: bib147 article-title: Recurrent DNMT3A mutations in patients with myelodysplastic syndromes publication-title: Leukemia doi: 10.1038/leu.2011.44 – volume: 549 start-page: 389 year: 2017 ident: bib97 article-title: A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease publication-title: Nature doi: 10.1038/nature23672 – volume: 36 year: 2015 ident: bib38 article-title: A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia publication-title: Neurobiology of Aging doi: 10.1016/j.neurobiolaging.2015.06.005 – volume: 1 start-page: 919 year: 2021 ident: bib136 article-title: Effect of APOE alleles on the glial transcriptome in normal aging and Alzheimer’s disease publication-title: Nature Aging doi: 10.1038/s43587-021-00123-6 – volume: 356 year: 2017 ident: bib99 article-title: Intersection of diverse neuronal genomes and neuropsychiatric disease: the brain somatic mosaicism network publication-title: Science doi: 10.1126/science.aal1641 – volume: 21 start-page: 395 year: 2015 ident: bib85 article-title: Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy publication-title: Nature Medicine doi: 10.1038/nm.3824 – volume: 27 start-page: 1943 year: 2013 ident: bib44 article-title: Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies publication-title: Leukemia doi: 10.1038/leu.2013.179 – volume: 33 start-page: 450 year: 2018 ident: bib108 article-title: Systematic functional annotation of somatic mutations in cancer publication-title: Cancer Cell doi: 10.1016/j.ccell.2018.01.021 – volume: 25 start-page: 25 year: 2000 ident: bib6 article-title: Gene Ontology: tool for the unification of biology publication-title: Nature Genetics doi: 10.1038/75556 – volume: 7 start-page: 248 year: 2010 ident: bib1 article-title: A method and server for predicting damaging missense mutations publication-title: Nature Methods doi: 10.1038/nmeth0410-248 – volume: 83 start-page: 11 year: 2014 ident: bib64 article-title: Alzheimer’s disease genetics: from the bench to the clinic publication-title: Neuron doi: 10.1016/j.neuron.2014.05.041 – volume: 12 start-page: 310 year: 2013 ident: bib146 article-title: Controversies and priorities in amyotrophic lateral sclerosis publication-title: The Lancet. Neurology doi: 10.1016/S1474-4422(13)70036-X – volume: 77 start-page: 43 year: 2015 ident: bib65 article-title: Alzheimer’s disease risk genes and mechanisms of disease pathogenesis publication-title: Biological Psychiatry doi: 10.1016/j.biopsych.2014.05.006 – volume: 288 start-page: 19459 year: 2013 ident: bib61 article-title: CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN publication-title: The Journal of Biological Chemistry doi: 10.1074/jbc.M113.475087 – volume: 15 year: 2014 ident: bib9 article-title: jvenn: an interactive Venn diagram viewer publication-title: BMC Bioinformatics doi: 10.1186/1471-2105-15-293 – volume: 12 start-page: 144 year: 1996 ident: bib15 article-title: Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells publication-title: Nature Genetics doi: 10.1038/ng0296-144 – volume: 22 start-page: 979 year: 2020 ident: bib12 article-title: Neurologic and oncologic features of Erdheim-Chester disease: a 30-patient series publication-title: Neuro-Oncology doi: 10.1093/neuonc/noaa008 – volume: 114 start-page: 1859 year: 2009 ident: bib89 article-title: Mutations in CBL occur frequently in juvenile myelomonocytic leukemia publication-title: Blood doi: 10.1182/blood-2009-01-198416 – volume: 22 start-page: 239 year: 2021 ident: bib104 article-title: Brain somatic mutation in aging and Alzheimer’s Disease publication-title: Annual Review of Genomics and Human Genetics doi: 10.1146/annurev-genom-121520-081242 – volume: 17 start-page: 17 year: 2014 ident: bib122 article-title: State of play in amyotrophic lateral sclerosis genetics publication-title: Nature Neuroscience doi: 10.1038/nn.3584 – volume: 37 start-page: 1 year: 2009 ident: bib57 article-title: Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists publication-title: Nucleic Acids Research doi: 10.1093/nar/gkn923 – volume: 6 start-page: 973 year: 2014 ident: bib23 article-title: BAF180 promotes cohesion and prevents genome instability and aneuploidy publication-title: Cell Reports doi: 10.1016/j.celrep.2014.02.012 – volume: 47 start-page: D330 year: 2019 ident: bib144 article-title: The gene ontology resource: 20 years and still going strong publication-title: Nucleic Acids Research doi: 10.1093/nar/gky1055 – volume: 9 year: 2021 ident: bib62 article-title: TNF-mediated neuroinflammation is linked to neuronal necroptosis in Alzheimer’s disease hippocampus publication-title: Acta Neuropathologica Communications doi: 10.1186/s40478-021-01264-w – volume: 27 start-page: 229 year: 1990 ident: bib14 article-title: Immortalization of murine microglial cells by a v-raf/v-myc carrying retrovirus publication-title: Journal of Neuroimmunology doi: 10.1016/0165-5728(90)90073-v – volume: 371 start-page: 2477 year: 2014 ident: bib41 article-title: Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence publication-title: The New England Journal of Medicine doi: 10.1056/NEJMoa1409405 – volume: 46 start-page: 310 year: 2014 ident: bib72 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nature Genetics doi: 10.1038/ng.2892 – volume: 43 start-page: 1467 year: 1993 ident: bib130 article-title: Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer’s disease publication-title: Neurology doi: 10.1212/wnl.43.8.1467 – volume: 9 year: 2018 ident: bib66 article-title: High prevalence of focal and multi-focal somatic genetic variants in the human brain publication-title: Nature Communications doi: 10.1038/s41467-018-06331-w – volume: 20 start-page: 1162 year: 2017 ident: bib40 article-title: Transcriptomic analysis of purified human cortical microglia reveals age-associated changes publication-title: Nature Neuroscience doi: 10.1038/nn.4597 – volume-title: bioRxiv year: 2019 ident: bib75 article-title: Fast gene set enrichment analysis doi: 10.1101/060012 – volume: 4 start-page: 44 year: 2009 ident: bib56 article-title: Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources publication-title: Nature Protocols doi: 10.1038/nprot.2008.211 – volume: 5 year: 2015 ident: bib134 article-title: Early astrocytosis in autosomal dominant Alzheimer’s disease measured in vivo by multi-tracer positron emission tomography publication-title: Scientific Reports doi: 10.1038/srep16404 – volume: 39 start-page: 6378 year: 2019 ident: bib142 article-title: Accumulation of cytoplasmic DNA Due to ATM deficiency activates the microglial viral response system with neurotoxic consequences publication-title: The Journal of Neuroscience doi: 10.1523/JNEUROSCI.0774-19.2019 – volume: 6 start-page: 734 year: 2007 ident: bib32 article-title: Research criteria for the diagnosis of Alzheimer’s disease: revising the NINCDS-ADRDA criteria publication-title: The Lancet. Neurology doi: 10.1016/S1474-4422(07)70178-3 – volume: 570 start-page: 332 year: 2019 ident: bib98 article-title: Single-cell transcriptomic analysis of Alzheimer’s disease publication-title: Nature doi: 10.1038/s41586-019-1195-2 – volume: 349 start-page: 704 year: 1991 ident: bib43 article-title: Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease publication-title: Nature doi: 10.1038/349704a0 – volume: 28 start-page: 241 year: 2014 ident: bib50 article-title: Landscape of genetic lesions in 944 patients with myelodysplastic syndromes publication-title: Leukemia doi: 10.1038/leu.2013.336 – volume: 35 start-page: 1372 year: 2014 ident: bib21 article-title: RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR publication-title: Human Mutation doi: 10.1002/humu.22682 – volume: 10 year: 2019 ident: bib116 article-title: Brain somatic mutations observed in Alzheimer’s disease associated with aging and dysregulation of tau phosphorylation publication-title: Nature Communications doi: 10.1038/s41467-019-11000-7 – volume: 34 start-page: 511 year: 2018 ident: bib126 article-title: FATHMM-XF: accurate prediction of pathogenic point mutations via extended features publication-title: Bioinformatics doi: 10.1093/bioinformatics/btx536 – volume: 20 start-page: 779 year: 2017 ident: bib123 article-title: The Lifespan and turnover of microglia in the human brain publication-title: Cell Reports doi: 10.1016/j.celrep.2017.07.004 – volume: 14 year: 2018 ident: bib103 article-title: RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1 publication-title: PLOS Genetics doi: 10.1371/journal.pgen.1007370 – reference: 38328106 - bioRxiv. 2024 Aug 03:2024.01.25.577216. doi: 10.1101/2024.01.25.577216.
SSID	ssj0000748819
Score	2.4375312
Snippet	Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however, few studies have...
SourceID	doaj hal proquest pubmed crossref
SourceType	Open Website Open Access Repository Aggregation Database Index Database Enrichment Source
SubjectTerms	Aged Alzheimer Disease - genetics Alzheimer Disease - pathology Alzheimer's disease Animals Blood cells Brain Brain injury Cell death Cloning Female Flow cytometry Genetic testing Humans Inflammation - pathology Inflammatory diseases Life Sciences Male MAP kinase Mice Microglia Microglia - metabolism Microglia - pathology Mutation Neurodegeneration Neurodegenerative diseases Neuronal-glial interactions somatic mutations Stromal cells Tissues
SummonAdditionalLinks	– databaseName: DOAJ Directory of Open Access Journals dbid: DOA link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1LaxRBEC4kRPAivh0TZZSchDHTj5nuPk7EkMMSPATJbehHtVnY3YTdTUBP_g3_Xn6J1T2TZQXFi9eeYh7f191VRdd8BXDAeO15sKIKjGElhWeV9cFVJjrOkGuL-S_XLxN1eqrPz83nrVZfqSZskAcegDt0yhlRG6e9bqRvnG0ZuRQeo22cipiVQGtltpKpvAcrmpjMDD_kKXKZhziZRvxg2iZp6my5oKzUT47lItVB_i3IzM7m-BE8HKPEshve7jHcw8UTuD_0jfz2FLqunKdCuq-zqS39LAXTJc0UIneeD83LMGpq0mjZzb5f4HSOy9sfP1fleCDzDM6OP519PKnGXgiVF1quq4iWcuDQtOgoZzW00GRg6I3kQWNEH3nglmIJVIGpIAW5nNZzggtlDLIWz2FncbnAl1CqunXCOkKH7FVrrdat85pLVFxHFwt4f4dO70ed8NSuYtZTvpCg7DOUfYaygION8dUgj_Fns6ME88YkaVrnAWK6H5nu_8V0Ae-IpN_ucdJN-jRWU1RLW4-4YQXs33HYj6tx1QuetibNVV3A281lWkfpcMQu8PKabBgFwklkkxfwYuB-8yiZAtNWs1f_4zP24AFPPYRTTaDch5318hpfw66_WU9Xyzd5Gv8C8Yj4ww priority: 102 providerName: Directory of Open Access Journals
Title	A microglia clonal inflammatory disorder in Alzheimer’s disease
URI	https://www.ncbi.nlm.nih.gov/pubmed/40085681 https://www.proquest.com/docview/3204258270 https://www.proquest.com/docview/3177480802 https://hal.science/hal-05075783 https://doaj.org/article/b7b9309b8c854c5ba616612ffa5b7fe4
Volume	13
WOSCitedRecordID	wos001445526800001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D
hasFullText	1
inHoldings	1
isFullTextHit
isPrint
journalDatabaseRights	– providerCode: PRVAON databaseName: DOAJ Directory of Open Access Journals customDbUrl: eissn: 2050-084X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000748819 issn: 2050-084X databaseCode: DOA dateStart: 20130101 isFulltext: true titleUrlDefault: https://www.doaj.org/ providerName: Directory of Open Access Journals – providerCode: PRVHPJ databaseName: ROAD: Directory of Open Access Scholarly Resources customDbUrl: eissn: 2050-084X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000748819 issn: 2050-084X databaseCode: M~E dateStart: 20120101 isFulltext: true titleUrlDefault: https://road.issn.org providerName: ISSN International Centre – providerCode: PRVPQU databaseName: Biological Science Database customDbUrl: eissn: 2050-084X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000748819 issn: 2050-084X databaseCode: M7P dateStart: 20120101 isFulltext: true titleUrlDefault: http://search.proquest.com/biologicalscijournals providerName: ProQuest – providerCode: PRVPQU databaseName: Health & Medical Collection customDbUrl: eissn: 2050-084X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000748819 issn: 2050-084X databaseCode: 7X7 dateStart: 20120101 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 2050-084X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000748819 issn: 2050-084X databaseCode: BENPR dateStart: 20120101 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest – providerCode: PRVPQU databaseName: Publicly Available Content Database customDbUrl: eissn: 2050-084X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000748819 issn: 2050-084X databaseCode: PIMPY dateStart: 20120101 isFulltext: true titleUrlDefault: http://search.proquest.com/publiccontent providerName: ProQuest – providerCode: PRVPQU databaseName: Science Database customDbUrl: eissn: 2050-084X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0000748819 issn: 2050-084X databaseCode: M2P dateStart: 20120101 isFulltext: true titleUrlDefault: https://search.proquest.com/sciencejournals providerName: ProQuest
link	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lb9QwEB7RLkhcyrMQKKuAekIKjR1v7JxQiloVabuKUIWWU-Rnu9I-yu62UjnxN_h7_BLGTjaABFy4-OCMHMsz9nyeGc8A7BOaampklhhCbMIyTRKpjUoKpyixVEgbXrl-HPLRSIzHRdUa3FZtWOXmTAwHtVlobyM_yKgXL0F5-vbyc-KrRnnvaltCYwt6iGyID-k6pVVnY0H1KFDjNc_yOCrOAzucOPumyAc-s84viijk60f1cuGjIf8GNYPKOb73v5O9Dzst2IzLRjoewC07fwh3mvKTN4-gLOOZj8c7n05krKcek8cocCgjs-B7j02bmhN743L65cJOZnb5_eu3Vdz6dR7D2fHR2buTpC2pkOhMsHXirMSrtBnkVuHVt8D9ygyxumDUCOusdtRQiZDEckO4YRlqrlzTgZKWOcPSbBe254u5fQoxT3OVSYXLi_Q8l1KIXGlBmeVUOOUieL1Z3lq36cZ91YtpjdcOz4s68KIOvIhgvyO-bLJs_Jns0POpI_GpsUPHYnletzutVlwVWVooocWAaZx6ThCDUOfkQHFnWQSvkMu_jXFSDmvflyI4xhMsuyYR7G0YW7ebelX_5GoEL7vPuB29j0XO7eIKaQjiaZ-rk0bwpBGe7lfM49tckGf_Hvw53KW-yLAPGmR7sL1eXtkXcFtfryerZR-2-JiHVvShd3g0qj70gyGhH2TftxzbXvX-tPr0A5UBDUE
linkProvider	ProQuest
linkToHtml	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwEB6VAoIL70egQEDlUik0dpzEOSC0PKqtuqx6WKHeLD_blfZRdrdF5cTf4Efwp_glzCTZBSTg1gNXZ-RYmc_zzcTjGYBNxlPLnc4Sx5hPRGZZoq0zSRUMZ55L7etbrh96Zb8vDw6q_TX4trwLQ2mVS5tYG2o3tfSPfDvjBC_Jy_TV8ceEukbR6eqyhUYDiz1_9glDtvnL3beo3-ec77wbvOkmbVeBxGZSLJLgNUaTLi-8weivQsgKx7ytBHfSB28Dd1wjK_vSsdKJDI13YXlutBfBiTTDaS_ARUGFxShTkO-vfukgG0sk2OYWYIk8ve17w-BfVEVOhXx-4b26PQCy2RElX_7Ns60Zbuf6f_ZtbsC11pWOOw32b8Kan9yCy01zzbPb0OnEY8o2PBwNdWxHFHHEuJ1wB4zrzILYtYVHcTTujD4f-eHYz75_-TqP21OrOzA4j-XfhfXJdOLvQ1ymhcm0QW2ifFloLWVhrOTCl1wGEyLYWmpT2baYOvX0GCkMqkj1qla9qlUfweZK-LipIfJnsdcEi5UIFf6uB6azQ9XaEWVKU2VpZaSVubC49IKhh8VD0LkpgxcRPENQ_TZHt9NTNJai64_2OTtlEWwscaRakzVXP0EUwdPVYzQ2dIKkJ356gjIMowWqRMojuNdgdfUqQd57IdmDf0_-BK50B-97qrfb33sIVzm1U6b0SLEB64vZiX8El-zpYjifPa43VwzqnAH7A4G9ZMI
linkToPdf	http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V3LbtQwFL0qU0BseD8CBQIqG6QwseNJnAVCgTLqqMNoFhUqK8vPdqR5lJlpUVnxG3wKv8OXcJ0XIAG7Ltg6V44Vn_uKr-8B2CY01tTIJDKE2IglmkRSGxXlTlFiKZe2vOX6fpiNRvzgIB9vwLfmLowvq2xsYmmozUL7f-TdhHp4cZrFXVeXRYx3-q-OP0aeQcqftDZ0GhVE9uzZJ0zfVi8HO7jXzyjtv91_sxvVDAORTjhbR85KzCxNL7UKM8Ec4csMsTpn1HDrrHbUUIke2maGZIYlaMhTTXtKWuYMixOc9gJsYkTOaAc2x4N34w_tDx70zRzdbXUnMEOv3bXDibMv8rTn2_r84gVLsgD0bUe-FPNvcW7p7_rX_uMvdR2u1kF2WFRacQM27PwmXKpoN89uQVGEM1-HeDidyFBPfS4SoqKhbszKmoPQ1C1JcTQspp-P7GRml9-_fF2F9XnWbdg_j-Xfgc58Mbf3IMziVCVS4c6ifJZKyXmqNKfMZpQ75QJ43uys0HWbdc_2MRWYbnkYiBIGooRBANut8HHVXeTPYq89RFoR3xK8HFgsD0VtYYTKVJ7EueKa95jGpacEYy_qnOypzFkWwFME2G9z7BZD4cdiTArQcienJICtBlOiNmYr8RNQATxpH6MZ8mdLcm4XJyhDMI_wPUppAHcr3LavYj6uTzm5_-_JH8NlxKkYDkZ7D-AK9TzLvm6SbUFnvTyxD-GiPl1PVstHtaaFIM4ZsT8AgwlvCw
openUrl	ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=A+microglia+clonal+inflammatory+disorder+in+Alzheimer%E2%80%99s+disease&rft.jtitle=eLife&rft.au=Vicario%2C+Rocio&rft.au=Fragkogianni%2C+Stamatina&rft.au=Weber%2C+Leslie&rft.au=Lazarov%2C+Tomi&rft.date=2025-03-14&rft.pub=eLife+Sciences+Publication&rft.eissn=2050-084X&rft.volume=13&rft.issue=2&rft_id=info:doi/10.7554%2FeLife.96519&rft.externalDBID=HAS_PDF_LINK&rft.externalDocID=oai%3AHAL%3Ahal-05075783v1
thumbnail_l	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2050-084X&client=summon
thumbnail_m	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2050-084X&client=summon
thumbnail_s	http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2050-084X&client=summon