Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt...
Saved in:
| Published in: | PLoS genetics Vol. 13; no. 3; p. e1006683 |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
United States
Public Library of Science
27.03.2017
Public Library of Science (PLoS) |
| Subjects: | |
| ISSN: | 1553-7404, 1553-7390, 1553-7404 |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Abstract | Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype. |
|---|---|
| AbstractList | Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype. Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype. Several Mendelian disorders are caused by germline de novo mutations in genes in which somatic mutations have been implicated as cancer driver mutations. Germline de novo mutations in a hotspot of SETBP1 cause Schinzel-Giedion syndrome (SGS), a rare developmental disorder characterized by neurological alterations, malformations and increased cancer risk. Overlapping somatic SETBP1 mutations have been identified recurrently in myeloid leukemia. In this study, we characterize at the molecular and clinical level the largest cohort yet of individuals with SGS. We analyze the distribution and magnitude of effect of germline and somatic SETBP1 mutations in SGS and leukemia, respectively. SETBP1 mutations with weak effect are almost exclusively germline events, while strongly activating SETBP1 mutations occur both in SGS and leukemia. Strikingly, most cancer cases in SGS are observed in patients with strongly activating germline SETBP1 mutations. Our findings support a genotype-phenotype correlation for SGS and suggest the existence of a functional threshold required to drive malignancy both for germline and somatic SETBP1 mutations. This finding could be extrapolated to mutations in other genes implicated in developmental disorders and cancer, showing that the fields of cancer and developmental genetics can learn from the other discipline to gain insight into their own subject. Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype.Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype. |
| Audience | Academic |
| Author | Franke, Lude Schinzel, Albert Fatemi, Ali Hoischen, Alexander Marques Lourenço, Charles Destree, Anne Kayserili, Hülya Uzielli, Maria Luisa Mihci, Ercan Lapi, Elisabetta Baumer, Alessandra Deriziotis, Pelagia Lambie, Lindsday A. Deshpande, Charu Vandersteen, Anthony Acuna-Hidalgo, Rocio van Dam, Sipko Telegrafi, Aida B. Cohen, Julie S. Andre, Gwenaelle van Bon, Bregje W. Moreira, Lilia M. A. Rossier, Eva Reutter, Heiko Veltman, Joris A. Jezela-Stanek, Aleksandra Steehouwer, Marloes Hoover-Fong, Julie Nur, Banu G. Horovitz, Dafne D. G. Graham, Sarah A. Smigiel, Robert Borges Ferreira, Viviane McGaughran, Julie Dufke, Andreas da Rocha, Katia M. Gilissen, Christian Brooks, Alice S. Smitka, Martin Aracena, Mariana Spencer, Careni Altunoglu, Umut Grebe, Theresa A. Fisher, Simon E. Di Donato, Nataliya De Vries, Bert B. A. |
| AuthorAffiliation | 7 Institute of Pathology and Genetics (IPG), Gosselies, Belgium 24 Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany 11 Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, İstanbul, Turkey 30 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany 31 Unité de foetopathologie, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France 3 Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands 8 Department of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland 34 Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom 23 Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America 36 Department of Internal Medicine and Radboud Ce |
| AuthorAffiliation_xml | – name: 25 Division of Genetics & Metabolism, Phoenix Children’s Hospital, Phoenix, Arizona, United States of America – name: 20 Department of Medical Genetics, Children’s Memorial Health Institute, Warsaw, Poland – name: 21 Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands – name: 29 Neurogenetics Unit, Department of Medical Genetics School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil – name: 30 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany – name: Stanford University School of Medicine, UNITED STATES – name: 8 Department of Pediatrics and Rare Disorders, Medical University, Wroclaw, Poland – name: 22 Institute of Human Genetics, University of Bonn, Bonn, Germany and Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany – name: 27 Department of Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom – name: 9 Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa – name: 15 Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey – name: 24 Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany – name: 4 University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands – name: 3 Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands – name: 17 Hospital Santa Izabel, Salvador-Bahia, Brazil – name: 23 Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, United States of America – name: 5 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, United States of America – name: 6 GeneDx, Gaithersburg, Maryland, United States of America – name: 19 Center for Human Genome Studies, Institute of Biosciences, USP, Sao Paulo, Brazil – name: 13 University of Florence, Genetic Science, Firenze, Italy – name: 31 Unité de foetopathologie, Hôpital Pellegrin, Place Amélie Raba Léon, Bordeaux, France – name: 18 CERES-Genetica Reference Center and Studies in Medical Genetics and Instituto Fernandes Figueira / Fiocruz, Rio de Janeiro, Brazil – name: 33 Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland and School of Medicine, The University of Queensland, Brisbane, Queensland, Australia – name: 11 Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, İstanbul, Turkey – name: 34 Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom – name: 26 Institute for Clinical Genetics, TU Dresden, Dresden, Germany – name: 35 Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands – name: 16 Laboratory of Human Genetics, Biology Institute, Federal University of Bahia (UFBA), Bahia, Brazil – name: 7 Institute of Pathology and Genetics (IPG), Gosselies, Belgium – name: 12 Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy – name: 28 North West Thames Regional Genetics Unit, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park & St Marks Hospital, Harrow, Middlesex, United Kingdom – name: 32 Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland – name: 36 Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands – name: 2 Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands – name: 14 División de Pediatría, Pontificia Universidad Católica de Chile and Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago Chile – name: 10 Medical Genetics Department, Koç University School of Medicine (KUSOM), İstanbul, Turkey – name: 1 Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands |
| Author_xml | – sequence: 1 givenname: Rocio orcidid: 0000-0001-9413-0348 surname: Acuna-Hidalgo fullname: Acuna-Hidalgo, Rocio – sequence: 2 givenname: Pelagia surname: Deriziotis fullname: Deriziotis, Pelagia – sequence: 3 givenname: Marloes surname: Steehouwer fullname: Steehouwer, Marloes – sequence: 4 givenname: Christian surname: Gilissen fullname: Gilissen, Christian – sequence: 5 givenname: Sarah A. surname: Graham fullname: Graham, Sarah A. – sequence: 6 givenname: Sipko orcidid: 0000-0001-9204-0197 surname: van Dam fullname: van Dam, Sipko – sequence: 7 givenname: Julie surname: Hoover-Fong fullname: Hoover-Fong, Julie – sequence: 8 givenname: Aida B. surname: Telegrafi fullname: Telegrafi, Aida B. – sequence: 9 givenname: Anne surname: Destree fullname: Destree, Anne – sequence: 10 givenname: Robert surname: Smigiel fullname: Smigiel, Robert – sequence: 11 givenname: Lindsday A. surname: Lambie fullname: Lambie, Lindsday A. – sequence: 12 givenname: Hülya surname: Kayserili fullname: Kayserili, Hülya – sequence: 13 givenname: Umut surname: Altunoglu fullname: Altunoglu, Umut – sequence: 14 givenname: Elisabetta surname: Lapi fullname: Lapi, Elisabetta – sequence: 15 givenname: Maria Luisa surname: Uzielli fullname: Uzielli, Maria Luisa – sequence: 16 givenname: Mariana surname: Aracena fullname: Aracena, Mariana – sequence: 17 givenname: Banu G. surname: Nur fullname: Nur, Banu G. – sequence: 18 givenname: Ercan surname: Mihci fullname: Mihci, Ercan – sequence: 19 givenname: Lilia M. A. surname: Moreira fullname: Moreira, Lilia M. A. – sequence: 20 givenname: Viviane surname: Borges Ferreira fullname: Borges Ferreira, Viviane – sequence: 21 givenname: Dafne D. G. surname: Horovitz fullname: Horovitz, Dafne D. G. – sequence: 22 givenname: Katia M. surname: da Rocha fullname: da Rocha, Katia M. – sequence: 23 givenname: Aleksandra surname: Jezela-Stanek fullname: Jezela-Stanek, Aleksandra – sequence: 24 givenname: Alice S. surname: Brooks fullname: Brooks, Alice S. – sequence: 25 givenname: Heiko surname: Reutter fullname: Reutter, Heiko – sequence: 26 givenname: Julie S. surname: Cohen fullname: Cohen, Julie S. – sequence: 27 givenname: Ali surname: Fatemi fullname: Fatemi, Ali – sequence: 28 givenname: Martin surname: Smitka fullname: Smitka, Martin – sequence: 29 givenname: Theresa A. surname: Grebe fullname: Grebe, Theresa A. – sequence: 30 givenname: Nataliya surname: Di Donato fullname: Di Donato, Nataliya – sequence: 31 givenname: Charu surname: Deshpande fullname: Deshpande, Charu – sequence: 32 givenname: Anthony surname: Vandersteen fullname: Vandersteen, Anthony – sequence: 33 givenname: Charles surname: Marques Lourenço fullname: Marques Lourenço, Charles – sequence: 34 givenname: Andreas surname: Dufke fullname: Dufke, Andreas – sequence: 35 givenname: Eva surname: Rossier fullname: Rossier, Eva – sequence: 36 givenname: Gwenaelle surname: Andre fullname: Andre, Gwenaelle – sequence: 37 givenname: Alessandra surname: Baumer fullname: Baumer, Alessandra – sequence: 38 givenname: Careni surname: Spencer fullname: Spencer, Careni – sequence: 39 givenname: Julie surname: McGaughran fullname: McGaughran, Julie – sequence: 40 givenname: Lude surname: Franke fullname: Franke, Lude – sequence: 41 givenname: Joris A. surname: Veltman fullname: Veltman, Joris A. – sequence: 42 givenname: Bert B. A. surname: De Vries fullname: De Vries, Bert B. A. – sequence: 43 givenname: Albert surname: Schinzel fullname: Schinzel, Albert – sequence: 44 givenname: Simon E. surname: Fisher fullname: Fisher, Simon E. – sequence: 45 givenname: Alexander surname: Hoischen fullname: Hoischen, Alexander – sequence: 46 givenname: Bregje W. orcidid: 0000-0003-2234-0105 surname: van Bon fullname: van Bon, Bregje W. |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28346496$$D View this record in MEDLINE/PubMed |
| BookMark | eNqVk22L1DAQx4uceA_6DUQLguiLrnlqm_pCOI_zXDhccU_fhjRNulnSZG3aw_PTm-72ju1xiJIXCZPf_GcymTmODqyzMoqeQzCDOIfv1q5vLTezTS3tDAKQZRQ_io5gmuIkJ4Ac7J0Po2Pv1wDglBb5k-gQUUwyUmRHUb24lq3hm422dbw8v_r4FcY11zZxKlG9FZ12Nm76jg8HH2sbL8VK29_SJBdaVsOtv7FV6xoZc1vFK9nwzhlXaxE33Ojaciu09E-jx4obL5-N-0n0_dP51dnn5HJxMT87vUxEXqAugUhiVJYgJVlJK6mgElTCIhhJhTJCCYAE0rICMC_LqqBYIoUKCKACmQAS45Po5U53Y5xnY408g5TSLM0wTQMx3xGV42u2aXXD2xvmuGZbg2trxttOCyMZIYBTmKelyDgpEaUi5ACxUgXKg5UErQ9jtL5sZCWk7VpuJqLTG6tXrHbXLMU0Q8WQzJtRoHU_e-k71mgvpDHcStdv84Z5jlIyxHp1D334dSNV8_AAbZULccUgyk5JgfO0gAgFavYAFVYlGy1Cnykd7BOHtxOHwHTyV1fz3ns2X377D_bLv7OLH1P29R67ktx0K-9Mv-3MKfhi_1fuvuO26wNAdoBonfetVHcIBGwYrtvSsmG42Dhcwe39PTehd4MRqqfN353_AObEKLk |
| CitedBy_id | crossref_primary_10_1002_bdr2_2271 crossref_primary_10_1371_journal_pone_0296328 crossref_primary_10_1186_s12887_024_04779_y crossref_primary_10_3389_fonc_2022_908943 crossref_primary_10_1042_BST20201313 crossref_primary_10_3389_fneur_2020_593446 crossref_primary_10_1007_s00439_020_02231_6 crossref_primary_10_1016_j_ajhg_2024_03_005 crossref_primary_10_1111_jpc_14150 crossref_primary_10_3389_fped_2022_920741 crossref_primary_10_1002_ajmg_a_61630 crossref_primary_10_1016_j_omtm_2022_08_007 crossref_primary_10_1093_toxsci_kfaf040 crossref_primary_10_3892_mco_2019_1840 crossref_primary_10_1016_j_clml_2025_03_015 crossref_primary_10_3390_cancers14051335 crossref_primary_10_1186_s13052_020_00839_y crossref_primary_10_1038_s41598_024_75353_w crossref_primary_10_3389_fnins_2022_813430 crossref_primary_10_1186_s13023_023_02705_6 crossref_primary_10_1111_cge_14579 crossref_primary_10_1007_s10048_025_00846_3 crossref_primary_10_1007_s40995_025_01827_9 crossref_primary_10_1038_s41467_023_39043_x crossref_primary_10_1007_s12185_017_2241_1 crossref_primary_10_18359_rmed_7524 crossref_primary_10_3389_fnins_2022_980000 crossref_primary_10_1093_hmg_ddaf003 crossref_primary_10_1002_humu_23541 crossref_primary_10_1182_blood_2023021349 crossref_primary_10_1016_j_clml_2025_03_007 crossref_primary_10_1038_s41467_021_24391_3 crossref_primary_10_1111_jcmm_18001 crossref_primary_10_1002_ajmg_a_64015 crossref_primary_10_1155_2017_3740524 crossref_primary_10_1186_s12943_018_0774_4 crossref_primary_10_1158_1078_0432_CCR_24_2171 crossref_primary_10_1111_gtc_13057 crossref_primary_10_1038_s41467_018_04462_8 crossref_primary_10_1007_s12282_025_01667_w crossref_primary_10_1038_s41408_019_0270_0 crossref_primary_10_7717_peerj_11816 crossref_primary_10_1007_s00432_017_2518_z |
| Cites_doi | 10.1158/1055-9965.EPI-07-2630 10.1002/cncr.20985 10.1038/ng.2698 10.1182/blood-2014-06-579466 10.1038/leu.2013.133 10.1038/nature13394 10.3324/haematol.2014.108159 10.1038/leu.2013.97 10.1038/ncomms5954 10.1111/bjh.12491 10.1038/nn.3703 10.1002/ajh.23665 10.1002/pbc.23049 10.1007/s00381-013-2047-2 10.1007/s00277-015-2366-3 10.1111/j.1399-0004.2010.01552.x 10.1182/blood.V122.21.2511.2511 10.1016/j.anpedi.2014.06.017 10.1182/blood-2009-06-227363 10.1136/jmg.2010.084582 10.1126/scitranslmed.3009278 10.1038/nrm2468 10.1038/ng.2219 10.1016/j.ajhg.2011.11.018 10.1038/ng.2696 10.1182/blood-2005-02-0531 10.1038/ng.581 10.1002/ajh.24031 10.1007/s00277-014-2272-0 10.1002/ajmg.a.32277 10.1136/jmedgenet-2015-103161 10.1056/NEJMoa1409405 10.1046/j.1442-200x.2001.01348.x 10.1093/bioinformatics/btr254 10.1038/ng.868 10.1016/j.ejmg.2015.07.004 10.1002/ajmg.1320010402 10.1080/02841860600602946 10.1038/leu.2014.301 10.1038/leu.2013.145 10.1002/ajh.23611 10.1038/ng.2495 10.1182/blood-2011-10-388710 10.1016/j.celrep.2015.02.005 10.1016/S1470-2045(12)70558-2 10.1038/leu.2013.35 10.1158/1078-0432.CCR-14-0166 10.1159/000371598 10.1016/j.ejmg.2015.05.006 10.1002/ajmg.a.36789 10.1073/pnas.1407688111 10.1177/0883073814541468 10.1158/1078-0432.CCR-14-3100 10.1086/499925 10.1002/ajmg.10348 10.1111/bjh.12595 10.1097/MCD.0b013e3283518f1e 10.1186/s13045-014-0077-1 10.1007/s00431-008-0683-4 10.1186/s13059-014-0550-8 10.1046/j.1442-2042.2001.00291.x 10.1038/leu.2013.122 |
| ContentType | Journal Article |
| Copyright | COPYRIGHT 2017 Public Library of Science 2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet 13(3): e1006683. https://doi.org/10.1371/journal.pgen.1006683 2017 Acuna-Hidalgo et al 2017 Acuna-Hidalgo et al 2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet 13(3): e1006683. https://doi.org/10.1371/journal.pgen.1006683 |
| Copyright_xml | – notice: COPYRIGHT 2017 Public Library of Science – notice: 2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet 13(3): e1006683. https://doi.org/10.1371/journal.pgen.1006683 – notice: 2017 Acuna-Hidalgo et al 2017 Acuna-Hidalgo et al – notice: 2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet 13(3): e1006683. https://doi.org/10.1371/journal.pgen.1006683 |
| DBID | AAYXX CITATION CGR CUY CVF ECM EIF NPM IOV ISN ISR 3V. 7QP 7QR 7SS 7TK 7TM 7TO 7X7 7XB 88E 8FD 8FE 8FH 8FI 8FJ 8FK ABUWG AFKRA AZQEC BBNVY BENPR BHPHI CCPQU DWQXO FR3 FYUFA GHDGH GNUQQ H94 HCIFZ K9. LK8 M0S M1P M7P P64 PHGZM PHGZT PIMPY PJZUB PKEHL PPXIY PQEST PQGLB PQQKQ PQUKI PRINS RC3 7X8 5PM DOA |
| DOI | 10.1371/journal.pgen.1006683 |
| DatabaseName | CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Gale In Context: Opposing Viewpoints Gale In Context: Canada Gale In Context: Science ProQuest Central (Corporate) Calcium & Calcified Tissue Abstracts Chemoreception Abstracts Entomology Abstracts (Full archive) Neurosciences Abstracts Nucleic Acids Abstracts Oncogenes and Growth Factors Abstracts Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) Technology Research Database 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 Database (Proquest) ProQuest Central Natural Science Collection ProQuest One Community College ProQuest Central Engineering Research Database Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student AIDS and Cancer Research Abstracts SciTech Premium Collection ProQuest Health & Medical Complete (Alumni) Biological Sciences Health & Medical Collection (Alumni Edition) PML(ProQuest Medical Library) Biological Science Database Biotechnology and BioEngineering Abstracts ProQuest Central Premium ProQuest One Academic 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 Genetics Abstracts MEDLINE - Academic PubMed Central (Full Participant titles) Directory of Open Access Journals (DOAJ) |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Publicly Available Content Database ProQuest Central Student Oncogenes and Growth Factors Abstracts Technology Research Database ProQuest One Academic Middle East (New) ProQuest Central Essentials Nucleic Acids Abstracts 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 Genetics Abstracts Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Natural Science Collection ProQuest Central Korea Health & Medical Research Collection Biological Science Collection AIDS and Cancer Research Abstracts Chemoreception Abstracts ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest Biological Science Collection ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection Neurosciences Abstracts ProQuest Hospital Collection (Alumni) Biotechnology and BioEngineering Abstracts Entomology Abstracts ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition Engineering Research Database ProQuest One Academic Calcium & Calcified Tissue Abstracts ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic |
| DatabaseTitleList | MEDLINE Publicly Available Content Database MEDLINE - Academic |
| 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 Medicine |
| DocumentTitleAlternate | Overlapping germline and somatic mutations in SETBP1 |
| EISSN | 1553-7404 |
| ExternalDocumentID | 1888656385 oai_doaj_org_article_440a8175bc6a4b288c26413ff92775b4 PMC5386295 A493759122 28346496 10_1371_journal_pgen_1006683 |
| Genre | Research Support, Non-U.S. Gov't Journal Article |
| GeographicLocations | Netherlands Turkey United States--US Maryland Baltimore Maryland |
| GeographicLocations_xml | – name: Baltimore Maryland – name: Netherlands – name: Maryland – name: United States--US – name: Turkey |
| GrantInformation_xml | – fundername: European Research Council grantid: 637640 – fundername: ; – fundername: ; grantid: 918-15-667 – fundername: ; grantid: 917.14.374 – fundername: ; grantid: 637640 |
| GroupedDBID | --- 123 29O 2WC 53G 5VS 7X7 88E 8FE 8FH 8FI 8FJ AAFWJ AAUCC AAWOE AAYXX ABDBF ABUWG ACCTH ACGFO ACIHN ACIWK ACPRK ACUHS ADBBV ADRAZ AEAQA AENEX AFFHD AFKRA AFPKN AHMBA ALMA_UNASSIGNED_HOLDINGS AOIJS B0M BAIFH BAWUL BBNVY BBTPI BCNDV BENPR BHPHI BPHCQ BVXVI BWKFM CCPQU CITATION CS3 DIK DU5 E3Z EAP EAS EBD EBS EJD EMK EMOBN ESX F5P FPL FYUFA GROUPED_DOAJ GX1 HCIFZ HMCUK HYE IAO IGS IHR IHW INH INR IOV ISN ISR ITC KQ8 LK8 M1P M48 M7P O5R O5S OK1 OVT P2P PHGZM PHGZT PIMPY PJZUB PPXIY PQGLB PQQKQ PROAC PSQYO PV9 QF4 QN7 RNS RPM RZL SV3 TR2 TUS UKHRP WOW XSB ~8M ALIPV C1A CGR CUY CVF ECM EIF H13 IPNFZ NPM RIG WOQ 3V. 7QP 7QR 7SS 7TK 7TM 7TO 7XB 8FD 8FK AZQEC DWQXO FR3 GNUQQ H94 K9. P64 PKEHL PQEST PQUKI PRINS RC3 7X8 PUEGO 5PM AAPBV ABPTK M~E |
| ID | FETCH-LOGICAL-c792t-12e32bb0546b8def1fc8e19e324d2648401418bd017bbd983e2f29101f06c0e33 |
| IEDL.DBID | DOA |
| ISICitedReferencesCount | 45 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000398043000017&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 1553-7404 1553-7390 |
| IngestDate | Sun Nov 05 00:20:31 EDT 2023 Mon Nov 10 04:36:04 EST 2025 Tue Nov 04 01:58:41 EST 2025 Fri Sep 05 10:00:38 EDT 2025 Sat Nov 29 14:20:43 EST 2025 Tue Nov 11 10:42:08 EST 2025 Tue Nov 04 17:29:59 EST 2025 Thu Nov 13 14:57:47 EST 2025 Thu Nov 13 15:00:38 EST 2025 Thu Nov 13 14:18:03 EST 2025 Thu May 22 21:19:24 EDT 2025 Mon Jul 21 06:02:41 EDT 2025 Sat Nov 29 06:03:26 EST 2025 Tue Nov 18 22:17:27 EST 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Language | English |
| License | This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Creative Commons Attribution License |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c792t-12e32bb0546b8def1fc8e19e324d2648401418bd017bbd983e2f29101f06c0e33 |
| Notes | new_version ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Conceptualization: RAH PD AH BWvB.Data curation: RAH PD SvD BWvB.Formal analysis: RAH PD CG BWvB.Funding acquisition: RAH LF JAV BBADV SEF.Investigation: RAH PD MSt JHF ABT ADe RS LAL HK UA EL MLU MA BGN EM LMAM VBF DDGH KMdR AJS ASB HR JSC AF MSm TAG NDD CD AV CML ADu ER GA AB CS JM AS BWvB.Methodology: RAH PD SAG BWvB.Project administration: SEF AH BWvB.Resources: MSt SAG JHF ABT ADe RS LAL HK UA EL MLU MA BGN EM LMAM VBF DDGH KMdR AJS ASB HR JSC AF MSm TAG NDD CD AV CML ADu ER GA AB CS JM BBADV AS SEF BWvB.Software: RAH CG SvD.Supervision: PD LF JAV BBADV AS SEF AH BWvB.Validation: RAH PD BWvB.Visualization: RAH BWvB.Writing – original draft: RAH BWvB.Writing – review & editing: RAH PD CG SvD JAV BBADV SEF AH BWvB. AH and BWvB also contributed equally to this work. The authors have declared that no competing interests exist. |
| ORCID | 0000-0001-9204-0197 0000-0001-9413-0348 0000-0003-2234-0105 |
| OpenAccessLink | https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4 |
| PMID | 28346496 |
| PQID | 1888656385 |
| PQPubID | 1436339 |
| ParticipantIDs | plos_journals_1888656385 doaj_primary_oai_doaj_org_article_440a8175bc6a4b288c26413ff92775b4 pubmedcentral_primary_oai_pubmedcentral_nih_gov_5386295 proquest_miscellaneous_1881772544 proquest_journals_1888656385 gale_infotracmisc_A493759122 gale_infotracacademiconefile_A493759122 gale_incontextgauss_ISR_A493759122 gale_incontextgauss_ISN_A493759122 gale_incontextgauss_IOV_A493759122 gale_healthsolutions_A493759122 pubmed_primary_28346496 crossref_primary_10_1371_journal_pgen_1006683 crossref_citationtrail_10_1371_journal_pgen_1006683 |
| PublicationCentury | 2000 |
| PublicationDate | 20170327 |
| PublicationDateYYYYMMDD | 2017-03-27 |
| PublicationDate_xml | – month: 3 year: 2017 text: 20170327 day: 27 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: San Francisco – name: San Francisco, CA USA |
| PublicationTitle | PLoS genetics |
| PublicationTitleAlternate | PLoS Genet |
| PublicationYear | 2017 |
| Publisher | Public Library of Science Public Library of Science (PLoS) |
| Publisher_xml | – name: Public Library of Science – name: Public Library of Science (PLoS) |
| References | MA Elliott (ref42) 2015; 90 A Hoischen (ref4) 2010; 42 TL Lasho (ref47) 2014; 89 S Schubbert (ref56) 2007 CC Mason (ref62) 2015 I Cristobal (ref16) 2010; 115 M Al-Mudaffer (ref3) 2008; 167 JM Ko (ref24) 2013; 29 CB Gambacorti-Passerini (ref44) 2015; 125 S Bartels (ref45) 2015; 94 TL Lasho (ref38) 2014; 1 MM Agha (ref9) 2005; 103 F Miyake (ref25) 2015; 30 Y Cui (ref43) 2014; 7 E Ammatuna (ref41) 2015; 94 E Carvalho (ref21) 2015; 167 JM Lestner (ref23) 2012; 21 H Touge (ref19) 2001; 8 Y Herenger (ref29) 2015; 58 A Takeuchi (ref28) 2015; 58 G Wu (ref18) 2003; 11 K Suphapeetiporn (ref22) 2011; 79 A Volk (ref27) 2015; 6 F Thol (ref34) 2013; 27 A Hoischen (ref8) 2014; 17 F Damm (ref30) 2013; 27 WT Gibson (ref59) 2012; 90 M Meggendorfer (ref33) 2013; 27 E Fabiani (ref40) 2014; 99 RR Laborde (ref31) 2013; 27 A Schinzel (ref1) 1978; 1 CP Kratz (ref54) 2005; 106 A Senín (ref39) 2015; 144 A Durmaz (ref12) 2011; 56 A Agarwal (ref65) 2013; 122 P Deriziotis (ref67) 2014; 5 A Subramanian (ref50) 2005 FC Kelleher (ref13) 2006; 45 D Inoue (ref15) 2015; 29 a Pardanani (ref32) 2013; 27 L Xu (ref48) 2014; 111 M Fernandez-Mercado (ref35) 2013; 163 CP Barnett (ref53) 2015; 52 T Ravid (ref14) 2008; 9 T Bjorge (ref10) 2008; 17 V López-González (ref26) 2015; 82 C Gilissen (ref69) 2014; 511 I Filges (ref52) 2011; 48 H Sakaguchi (ref6) 2013; 45 JHM Merks (ref11) 2008; 299 JE Maxson (ref46) 2016; 22 D Perrotti (ref66) 2013; 14 D Minn (ref2) 2002; 109 T McKerrell (ref61) 2015; 10 R Piazza (ref5) 2012; 45 H-AA Hou (ref37) 2014; 89 J Van Durme (ref68) 2011; 27 K Oakley (ref17) 2012; 119 M Tartaglia (ref55) 2006; 78 MI Love (ref49) 2014; 15 P Neviani (ref64) 2014; 20 G Genovese (ref60) 2014; 371 HT Bjornsson (ref63) 2014; 6 T Kondoh (ref20) 2001; 43 AM Lehman (ref51) 2008; 146 N Shiba (ref36) 2014; 164 Y Tsurusaki (ref58) 2012; 44 H Makishima (ref7) 2013; 45 A Hoischen (ref57) 2011; 43 |
| References_xml | – volume: 17 start-page: 500 year: 2008 ident: ref10 article-title: Cancer Risk in Children with Birth Defects and in Their Families: A Population Based Cohort Study of 5.2 Million Children from Norway and Sweden publication-title: Cancer Epidemiol Biomarkers Prev doi: 10.1158/1055-9965.EPI-07-2630 – volume: 103 start-page: 1939 year: 2005 ident: ref9 article-title: Congenital abnormalities and childhood cancer publication-title: Cancer doi: 10.1002/cncr.20985 – volume: 45 start-page: 937 year: 2013 ident: ref6 article-title: Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia publication-title: Nat Genet doi: 10.1038/ng.2698 – volume: 125 start-page: 499 year: 2015 ident: ref44 article-title: Recurrent ETNK1 mutations in atypical chronic myeloid leukemia publication-title: Blood doi: 10.1182/blood-2014-06-579466 – volume: 27 start-page: 1852 year: 2013 ident: ref33 article-title: SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations publication-title: Leukemia doi: 10.1038/leu.2013.133 – volume: 1 start-page: 1 year: 2014 ident: ref38 article-title: Chronic neutrophilic leukemia with concurrent CSF3R and SETBP1 mutations: single colony clonality studies, in vitro sensitivity to JAK inhibitors and lack of treatment response to ruxolitinib publication-title: Leukemia – volume: 511 start-page: 344 year: 2014 ident: ref69 article-title: Genome sequencing identifies major causes of severe intellectual disability publication-title: Nature doi: 10.1038/nature13394 – year: 2015 ident: ref62 article-title: Age-related mutations and chronic myelomonocytic leukemia publication-title: Leukemia – volume: 99 start-page: e152 year: 2014 ident: ref40 article-title: SETBP1 mutations in 106 patients with therapy-related myeloid neoplasms publication-title: Haematologica doi: 10.3324/haematol.2014.108159 – volume: 27 start-page: 2100 year: 2013 ident: ref31 article-title: SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML publication-title: Leukemia doi: 10.1038/leu.2013.97 – volume: 5 start-page: 4954 year: 2014 ident: ref67 article-title: De novo TBR1 mutations in sporadic autism disrupt protein functions publication-title: Nat Commun doi: 10.1038/ncomms5954 – volume: 163 start-page: 235 year: 2013 ident: ref35 article-title: Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression publication-title: Br J Haematol doi: 10.1111/bjh.12491 – volume: 17 start-page: 764 year: 2014 ident: ref8 article-title: Prioritization of neurodevelopmental disease genes by discovery of new mutations publication-title: Nat Neurosci doi: 10.1038/nn.3703 – volume: 89 start-page: 450 year: 2014 ident: ref47 article-title: CALR mutation studies in chronic neutrophilic leukemia publication-title: Am J Hematol doi: 10.1002/ajh.23665 – volume: 56 start-page: 1098 year: 2011 ident: ref12 article-title: The Association of minor congenital anomalies and childhood cancer publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.23049 – volume: 29 start-page: 525 year: 2013 ident: ref24 article-title: Distinct neurological features in a patient with Schinzel—Giedion syndrome caused by a recurrent SETBP1 mutation publication-title: Child’s Nerv Syst doi: 10.1007/s00381-013-2047-2 – volume: 94 start-page: 1255 year: 2015 ident: ref45 article-title: De novo CSF3R mutation associated with transformation of myeloproliferative neoplasm to atypical CML publication-title: Ann Hematol doi: 10.1007/s00277-015-2366-3 – volume: 79 start-page: 391 year: 2011 ident: ref22 article-title: SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome publication-title: Clin Genet doi: 10.1111/j.1399-0004.2010.01552.x – volume: 122 start-page: 2511 year: 2013 ident: ref65 article-title: OP449, a Novel SET Antagonist, Is Cytotoxic To Leukemia Cells and Enhances Efficacy Of Tyrosine Kinase Inhibitors In Drug-Resistant Myeloid Leukemias publication-title: Blood doi: 10.1182/blood.V122.21.2511.2511 – volume: 82 start-page: e12 year: 2015 ident: ref26 article-title: Schinzel-Giedion syndrome: a new mutation in SETBP1 publication-title: An Pediatr (Barc) doi: 10.1016/j.anpedi.2014.06.017 – volume: 144 start-page: 487 year: 2015 ident: ref39 article-title: Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia publication-title: Med Clin (Barc) – volume: 115 start-page: 615 year: 2010 ident: ref16 article-title: SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia publication-title: Blood doi: 10.1182/blood-2009-06-227363 – volume: 48 start-page: 117 year: 2011 ident: ref52 article-title: Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome publication-title: J Med Genet doi: 10.1136/jmg.2010.084582 – volume: 6 start-page: 256ra135 year: 2014 ident: ref63 article-title: Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome publication-title: Sci Transl Med doi: 10.1126/scitranslmed.3009278 – volume: 299 start-page: 61 year: 2008 ident: ref11 article-title: Prevalence and Patterns of Morphological Abnormalities in Patients With Childhood Cancer publication-title: JAMA – volume: 9 start-page: 679 year: 2008 ident: ref14 article-title: Diversity of degradation signals in the ubiquitin—proteasome system publication-title: Nat Rev Mol Cell Biol doi: 10.1038/nrm2468 – volume: 44 start-page: 376 year: 2012 ident: ref58 article-title: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome publication-title: Nat Genet doi: 10.1038/ng.2219 – volume: 90 start-page: 110 year: 2012 ident: ref59 article-title: Mutations in EZH2 Cause Weaver Syndrome publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2011.11.018 – volume: 45 start-page: 942 year: 2013 ident: ref7 article-title: Somatic SETBP1 mutations in myeloid malignancies publication-title: Nat Genet doi: 10.1038/ng.2696 – volume: 11 start-page: 1445 year: 2003 ident: ref18 article-title: Structure of a beta-TrCP1-Skp1-beta-catenin complex: destruction motif binding and lysine specificity of the SCF(beta-TrCP1) ubiquitin ligase publication-title: Mol Cell – volume: 106 start-page: 2183 year: 2005 ident: ref54 article-title: The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease publication-title: Blood doi: 10.1182/blood-2005-02-0531 – volume: 42 start-page: 483 year: 2010 ident: ref4 article-title: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome publication-title: Nat Genet doi: 10.1038/ng.581 – volume: 90 start-page: 653 year: 2015 ident: ref42 article-title: ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia publication-title: Am J Hematol doi: 10.1002/ajh.24031 – volume: 94 start-page: 879 year: 2015 ident: ref41 article-title: Atypical chronic myeloid leukemia with concomitant CSF3R T618I and SETBP1 mutations unresponsive to the JAK inhibitor ruxolitinib publication-title: Ann Hematol doi: 10.1007/s00277-014-2272-0 – volume: 146 start-page: 1299 year: 2008 ident: ref51 article-title: Schinzel-Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria publication-title: Am J Med Genet Part A doi: 10.1002/ajmg.a.32277 – volume: 52 start-page: 719 year: 2015 ident: ref53 article-title: Monogenic and chromosomal causes of isolated speech and language impairment publication-title: J Med Genet doi: 10.1136/jmedgenet-2015-103161 – volume: 371 start-page: 2477 year: 2014 ident: ref60 article-title: Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence publication-title: N Engl J Med doi: 10.1056/NEJMoa1409405 – volume: 43 start-page: 181 year: 2001 ident: ref20 article-title: A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy publication-title: Pediatr Int doi: 10.1046/j.1442-200x.2001.01348.x – volume: 27 start-page: 1711 year: 2011 ident: ref68 article-title: A graphical interface for the FoldX forcefield publication-title: Bioinformatics doi: 10.1093/bioinformatics/btr254 – volume: 43 start-page: 729 year: 2011 ident: ref57 article-title: De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome publication-title: Nat Genet doi: 10.1038/ng.868 – volume: 58 start-page: 479 year: 2015 ident: ref29 article-title: Long term follow up of two independent patients with Schinzel—Giedion carrying SETBP1 mutations publication-title: Eur J Med Genet doi: 10.1016/j.ejmg.2015.07.004 – volume: 1 start-page: 361 year: 1978 ident: ref1 article-title: A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs publication-title: Am J Med Genet doi: 10.1002/ajmg.1320010402 – year: 2005 ident: ref50 article-title: Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles publication-title: Proc Natl Acad Sci U S A – volume: 45 start-page: 375 year: 2006 ident: ref13 article-title: Common critical pathways in embryogenesis and cancer publication-title: Acta Oncol (Madr) doi: 10.1080/02841860600602946 – volume: 29 start-page: 847 year: 2015 ident: ref15 article-title: SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS publication-title: Leukemia doi: 10.1038/leu.2014.301 – volume: 27 start-page: 2072 year: 2013 ident: ref34 article-title: SETBP1 mutation analysis in 944 patients with MDS and AML publication-title: Leukemia doi: 10.1038/leu.2013.145 – volume: 89 start-page: 181 year: 2014 ident: ref37 article-title: Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression publication-title: Am J Hematol doi: 10.1002/ajh.23611 – year: 2007 ident: ref56 article-title: Hyperactive Ras in developmental disorders and cancer publication-title: Nat Rev Cancer – volume: 45 start-page: 18 year: 2012 ident: ref5 article-title: Recurrent SETBP1 mutations in atypical chronic myeloid leukemia publication-title: Nat Genet doi: 10.1038/ng.2495 – volume: 119 start-page: 6099 year: 2012 ident: ref17 article-title: Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10 publication-title: Blood doi: 10.1182/blood-2011-10-388710 – volume: 10 start-page: 1239 year: 2015 ident: ref61 article-title: Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis publication-title: Cell Rep doi: 10.1016/j.celrep.2015.02.005 – volume: 14 start-page: e229 year: 2013 ident: ref66 article-title: Protein phosphatase 2A: A target for anticancer therapy publication-title: Lancet Oncol. Elsevier Ltd doi: 10.1016/S1470-2045(12)70558-2 – volume: 27 start-page: 1401 year: 2013 ident: ref30 article-title: SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias publication-title: Leukemia doi: 10.1038/leu.2013.35 – volume: 20 start-page: 2026 year: 2014 ident: ref64 article-title: SETting OP449 into the PP2A-activating drug family publication-title: Clin Cancer Res doi: 10.1158/1078-0432.CCR-14-0166 – volume: 6 start-page: 23 year: 2015 ident: ref27 article-title: Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician’s Perspective publication-title: Mol Syndromol doi: 10.1159/000371598 – volume: 58 start-page: 369 year: 2015 ident: ref28 article-title: Progressive brain atrophy in Schinzel—Giedion syndrome with a SETBP1 mutation publication-title: Eur J Med Genet doi: 10.1016/j.ejmg.2015.05.006 – volume: 167 start-page: 1039 year: 2015 ident: ref21 article-title: Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features publication-title: Am J Med Genet Part A doi: 10.1002/ajmg.a.36789 – volume: 111 start-page: 8589 year: 2014 ident: ref48 article-title: Genomic landscape of CD34+ hematopoietic cells in myelodysplastic syndrome and gene mutation profiles as prognostic markers publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.1407688111 – volume: 30 start-page: 932 year: 2015 ident: ref25 article-title: West Syndrome in a Patient With Schinzel-Giedion Syndrome publication-title: J Child Neurol doi: 10.1177/0883073814541468 – volume: 22 start-page: 757 year: 2016 ident: ref46 article-title: The Colony-Stimulating Factor 3 Receptor T640N Mutation Is Oncogenic, Sensitive to JAK Inhibition, and Mimics T618I publication-title: Clin Cancer Res doi: 10.1158/1078-0432.CCR-14-3100 – volume: 78 start-page: 279 year: 2006 ident: ref55 article-title: Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease publication-title: Am J Hum Genet doi: 10.1086/499925 – volume: 109 start-page: 211 year: 2002 ident: ref2 article-title: Further clinical and sensorial delineation of Schinzel-Giedion syndrome: Report of two cases publication-title: Am J Med Genet doi: 10.1002/ajmg.10348 – volume: 164 start-page: 156 year: 2014 ident: ref36 article-title: SETBP1 mutations in juvenile myelomonocytic leukaemia and myelodysplastic syndrome but not in paediatric acute myeloid leukaemia publication-title: Br J Haematol doi: 10.1111/bjh.12595 – volume: 21 start-page: 152 year: 2012 ident: ref23 article-title: Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case publication-title: Clin Dysmorphol doi: 10.1097/MCD.0b013e3283518f1e – volume: 7 start-page: 77 year: 2014 ident: ref43 article-title: CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia publication-title: J Hematol Oncol doi: 10.1186/s13045-014-0077-1 – volume: 167 start-page: 1399 year: 2008 ident: ref3 article-title: Clinical and radiological findings in Schinzel-Giedion syndrome publication-title: Eur J Pediatr doi: 10.1007/s00431-008-0683-4 – volume: 15 start-page: 550 year: 2014 ident: ref49 article-title: Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 publication-title: Genome Biol doi: 10.1186/s13059-014-0550-8 – volume: 8 start-page: 237 year: 2001 ident: ref19 article-title: Schinzel-Giedion syndrome publication-title: Int J Urol doi: 10.1046/j.1442-2042.2001.00291.x – volume: 27 start-page: 1870 year: 2013 ident: ref32 article-title: CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia publication-title: Leukemia doi: 10.1038/leu.2013.122 |
| SSID | ssj0035897 |
| Score | 2.4247398 |
| Snippet | Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of... |
| SourceID | plos doaj pubmedcentral proquest gale pubmed crossref |
| SourceType | Open Website Open Access Repository Aggregation Database Index Database Enrichment Source |
| StartPage | e1006683 |
| SubjectTerms | Abnormalities, Multiple - genetics Abnormalities, Multiple - metabolism Abnormalities, Multiple - pathology Biology and Life Sciences Blood cancer Blotting, Western Cancer Carrier Proteins - genetics Carrier Proteins - metabolism Cell Line Cell proliferation Cell Proliferation - genetics Cell Transformation, Neoplastic - genetics Child Child, Preschool Children & youth Craniofacial Abnormalities - genetics Craniofacial Abnormalities - metabolism Craniofacial Abnormalities - pathology Developmental disabilities Disruption Female Gene Expression Profiling Gene mutation Genetic aspects Genetic Association Studies Genetic Predisposition to Disease - genetics Genetics Genomes Genomics Germ-Line Mutation Hand Deformities, Congenital - genetics Hand Deformities, Congenital - metabolism Hand Deformities, Congenital - pathology Health sciences HEK293 Cells Hematologic Neoplasms - genetics Hematologic Neoplasms - metabolism Hematologic Neoplasms - pathology Hospitals Humans Incidence Infant Infant, Newborn Intellectual Disability - genetics Intellectual Disability - metabolism Intellectual Disability - pathology Laboratories Language Leukemia Life sciences Male Malignancy Medicine Medicine and Health Sciences Mutation Mutation hot spots Nails, Malformed - genetics Nails, Malformed - metabolism Nails, Malformed - pathology Neurosciences Nuclear Proteins - genetics Nuclear Proteins - metabolism Pathology Pediatrics Phenotype Research and Analysis Methods Schinzel-Giedion syndrome |
| SummonAdditionalLinks | – databaseName: Biological Science Database dbid: M7P link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lb9QwELZgeYgLj_LoQoGAkDiZJraTOCfUohaQYLtiC-otShw7rLRNls1uJfj1zDhOIKiCSlztSZTM2ONv7PE3hLzgKmMmlIpCbFBQwXzrBxPqZ4axjMmCG2vpD_FkIk9OkqnbcGtcWmXnE62jLmqFe-S7AYRqgD24DF8vv1GsGoWnq66ExmVyBVkSuE3dm3aemIeyLa4ShpzGENy7q3M8DnadpV4twUyYKRBFkg-WJsvg3_vp0XJRN-eB0D9zKX9bnA5v_e9v3SY3HSz19tpxdIdc0tUWudYWqvy-Ra5_dEfwd0l5dIZbgEjrUHqzg-P9aeCV2byitaG4SKKhvdNNe8LfePPKm2G65g-9oG8B7mJvx5LgZVXhWdLY1gN7pxAUlG294OYe-Xx4cPzmHXXVGqiKE7amAdOc5TlAwCiXhTaBUVIHCTSKAtPoBKaUyrwAF5DnRSK5ZoYBWAmMHylfc36fjKq60tvEC0WhAUhlAG4KkegiMdb1cD8Pc2WYHhPeGSpVjsocK2osUns-F0NI06otRfOmzrxjQvunli2Vxz_k93EM9LJIxG0b6lWZunmdCuFnEiBYrqJM5ExKBf8acGMSFkOrGJOnOILS9lZr707SPQG4MEwCxsbkuZVAMo4Ks33KbNM06fujLxcQmk0uIvRpIPTSCZkadKYydw0DNI9MYAPJnYEk-B016N7GSdGprkl_DWV4shvs53c_67vxpZjmV-l6Y2UCCPdCAXp70M6rXv2Ag0UkkmhM4sGMG9hn2FPNv1rCdFjUI5aED__-WY_IDYaYzeeUxTtktF5t9GNyVZ2t583qifUsPwEmw4Au priority: 102 providerName: ProQuest – databaseName: Public Library of Science (PLoS) Journals Open Access dbid: FPL link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV3db9MwELegwMQLH-NjgQEBIfFkSGwnsR83tAHS6Co60N6ixLGzSl1SLe0k-Ou5c9JApk2Mt8p3rtK73Pnn3vlnQt5ynTEbSU1hb1BQwQKXBxUNMstYxmTBrfP0QTIey-NjNfmzUbxQwedJ-KGz6fsFGBRr-nEs-U1yi3H4gLSOk4N15uWRVEl3PO6qmYPlx7H097l4tJjXzWVA82K_5F8L0P79_330B-ReBzX9nfbdeEhumGqT3Gkvn_y5STa-dmX1R6Q8PMe_9ZCqofSne0e7k9Avs1lFa0tx4UPn-aertmrf-LPKn2IL5i8zp58AwqJ0zXzgZ1XhOyLYNqv6pwD0y_YO4OYx-b6_d_TxM-1uYKA6UWxJQ2Y4y3OAdXEuC2NDq6UJFQyKAlvjBLaJyryAsM7zQklumGUAQEIbxDownD8ho6quzBbxI1EYAEcZAJZCKFMo69IJD_Io15YZj_C1Y1Ld0ZPjLRnz1NXcEtimtGZL0ZppZ02P0H7WoqXn-If-Lvq810VybTcAbku7WE2FCDIJsCrXcSZyJqWG3xpyaxVLYFR45BW-MWl7UrVPEemOAKwXqZAxj7xxGkiwUWEHT5mtmib9cvjjGkrT8XWUvg2U3nVKtgab6aw7WgGWR3avgeb2QBNyiR6ItzAI1qZr0lBKCYifywhmrgPjcvHrXoxfiq17lalXTieELVwkwG5P2zjqzQ_YVsRCxR5JBhE28M9QUs1OHAk6LNQxU9Gzq5_4ObnLEIMFnLJkm4yWZyvzgtzW58tZc_bSZY7fJMhscQ priority: 102 providerName: Public Library of Science |
| Title | Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/28346496 https://www.proquest.com/docview/1888656385 https://www.proquest.com/docview/1881772544 https://pubmed.ncbi.nlm.nih.gov/PMC5386295 https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4 http://dx.doi.org/10.1371/journal.pgen.1006683 |
| Volume | 13 |
| WOSCitedRecordID | wos000398043000017&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: 1553-7404 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0035897 issn: 1553-7404 databaseCode: DOA dateStart: 20050101 isFulltext: true titleUrlDefault: https://www.doaj.org/ providerName: Directory of Open Access Journals – providerCode: PRVPQU databaseName: Biological Science Database customDbUrl: eissn: 1553-7404 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0035897 issn: 1553-7404 databaseCode: M7P dateStart: 20050701 isFulltext: true titleUrlDefault: http://search.proquest.com/biologicalscijournals providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 1553-7404 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0035897 issn: 1553-7404 databaseCode: BENPR dateStart: 20050701 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest_Health & Medical Collection customDbUrl: eissn: 1553-7404 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0035897 issn: 1553-7404 databaseCode: 7X7 dateStart: 20050701 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: Publicly Available Content Database customDbUrl: eissn: 1553-7404 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0035897 issn: 1553-7404 databaseCode: PIMPY dateStart: 20050701 isFulltext: true titleUrlDefault: http://search.proquest.com/publiccontent providerName: ProQuest – providerCode: PRVATS databaseName: Public Library of Science (PLoS) Journals Open Access customDbUrl: eissn: 1553-7404 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0035897 issn: 1553-7404 databaseCode: FPL dateStart: 20050701 isFulltext: true titleUrlDefault: http://www.plos.org/publications/ providerName: Public Library of Science |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3fb9MwELaggMQL4vcKowSExJNZYjuJ87iiFiaNLloHKk9R4tilUpdWSzsJ_nru7DRa0KTtgZc8-C6RcmfffU7O3xHygaucmVAqCnuDkgrm2ziYUD83jOVMltxYTx_Hk4mczZL0SqsvrAlz9MDOcAdC-LmEHFeoKBcFk1JBCg-4MQmLYdQygQLq2W2mXAzmoXRtVcKQ0xi29c2hOR4HB42PPq3BQVgjEEWSd5KS5e5vI3RvvVzV18HPf6sor6Sl8WPyqMGT3qF7jyfkjq6ekgeuw-TvZ2R-cokf7JCEYe5NR2fDNPDm-aKiK0MxpaFbvPOt-x9fe4vKm2Jx5R-9pF8AnKJ0x2ng5VXpWYpXFy-9c4Dwc9fdt35Ovo9HZ5-_0qa3AlVxwjY0YJqzogDAFhWy1CYwSuoggUFRYtGbwAJQWZSwYIuiTCTXzDCAFoHxI-Vrzl-QXrWq9B7xQlFqgD05QJFSJLpMjA0U3C_AaYbpPuE742aqIR7H_hfLzP5Ni2ED4myVoUuyxiV9Qtu71o544wb9Ifqt1UXabDsAkylrJlN202Tqk7fo9cydQW0Xf3YoAMWFScBYn7y3GkidUWFtzjzf1nV2dPLjFkrTyW2UTjtKHxslswKbqbw5NAGWR96ujuZ-RxOihOqI93Ai70xXZ4GUErA8lyHcuZvc14vftWJ8KBblVXq1tToBbM5CAXZ76dZCa35ArSISSdQncWeVdPzTlVSLX5beHFJwxJLw1f9w6GvykCEO8zll8T7pbS62-g25ry43i_piQO7Gs9he5YDcG44m6enAxhG4jtPjARYCpyBJj76lP_8CHXZ0vQ |
| linkProvider | Directory of Open Access Journals |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwELaq5XnhUR5dKDQgUE-mie0kzgGhFlpatd2u2AX1FhLHXlbaJkvTLSo_it_IjJMsBFXQSw9c7clqM54Zf-N8niHkBVcJM75UFHKDjArm2jgYUTcxjCVMZtzYld4Lez15eBj1F8iP5i4M0iqbmGgDdVYoPCNf8yBVA-zBpf9m-pVi1yj8utq00KjMYleffYOUrXy98w7W9yVjW5vDt9u07ipAVRixE-oxzVmaAlQJUplp4xkltRfBoMiQ7iWQ-ijTDEw1TbNIcs0Mg03VM26gXI0HoBDyrwCMYNJSBftN5Oe-rJq5-D6nIY_c-qoeD7212jJeTcEskJkQBJK3tkLbMWC-L3Smk6I8D_T-yd38bTPcuv2_qfEOuVXDbme98pO7ZEHni-Ra1YjzbJFc368pBvfI6OAUjzixbMXIGWwON_qeM0rGOS0MRRCAhuwczSoGQ-mMc2eAdNTvekLfA5zH2aYKhJPkmWOL4lY7jHMESc-o6odc3icfL-WFH5BOXuR6iTi-yDQAxQTAWyYinUXGhlbupn6qDNNdwhvDiFVdqh07hkxi-_0xhJStUluM5hTX5tQldP7UtCpV8g_5DbS5uSwWGrcDxfEoruNWLISbSICYqQoSkTIpFbyrx42JWAijoktW0GLj6tbuPFzG6wJwrx95jHXJcyuBxUZyZDONkllZxjsHny4gNOhdROhDS2i1FjIF6Ewl9TUT0DxWOmtJLrckIa6q1vQSOmGjujL-5TrwZONc508_m0_jjyKNMdfFzMp4kM76AvT2sPLjufoB54tAREGXhC0Pb61PeyYff7EF4QG0BCzyH_39b62QG9vD_b14b6e3-5jcZIhPXU5ZuEw6J8cz_YRcVacn4_L4qY1qDvl82f7_EzQG23g |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwELaqBSouPMqjC4UGBOJkNrGdxDkg1NIWqpbtii2ot5A49rJSmyxNt6j8NH4dM84DgiropQeunslqM57HN854hpBnXCXM-FJRyA0yKphr_WBE3cQwljCZcWN3ejccDuXBQTRaID-auzBYVtn4ROuos0LhGfnAg1QNsAeX_sDUZRGjja3Xs68UJ0jhl9ZmnEalIjv67Bukb-Wr7Q3Y6-eMbW3uv3lH6wkDVIURO6Ee05ylKcCWIJWZNp5RUnsRLIoMS78ElkHKNAO1TdMsklwzwyDAesYNlKvxMBTc_5UQm5bbssFREwW4L6vBLr7Pacgjt762x0NvUGvJyxmoCFYpBIHknbBopwe0MaI3OyzK8wDwn3WcvwXGrZv_s0hvkRs1HHfWKvu5TRZ0vkSuVQM6z5bI4vu69OAOmeyd4tEntrOYOOPN_fWR50ySaU4LQxEcoII7R_OqsqF0prkzxjLV7_qQvgWYj9SmO4ST5Jljm-VWkcc5gmRoUs1JLu-Sj5fywvdILy9yvUwcX2QaAGQCoC4Tkc4iY10ud1M_VYbpPuGNksSqbuGOk0QOY_tdMoRUrhJbjKoV16rVJ7R9ala1MPkH_zrqX8uLDcjtQnE8iWt_FgvhJhKgZ6qCRKRMSgXv6nFjIhbCquiTVdTeuLrN27rReE0AHvYjj7E-eWo5sAlJjro3SeZlGW_vfboA03h4EaYPHaYXNZMpQGYqqa-fgOSxA1qHc6XDCf5WdcjLaJCN6Mr4lxnBk42hnU9-0pLxR7G8MdfF3PJ4kOb6AuR2v7LpVvyA_0UgoqBPwo61d_anS8mnX2yjeAAzAYv8B3__W6tkEcw-3t0e7jwk1xnCVpdTFq6Q3snxXD8iV9XpybQ8fmwdnEM-X7b5_wRgAeQ1 |
| 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=Overlapping+SETBP1+gain-of-function+mutations+in+Schinzel-Giedion+syndrome+and+hematologic+malignancies&rft.jtitle=PLoS+genetics&rft.au=Acuna-Hidalgo%2C+Rocio&rft.au=Deriziotis%2C+Pelagia&rft.au=Steehouwer%2C+Marloes&rft.au=Gilissen%2C+Christian&rft.date=2017-03-27&rft.issn=1553-7404&rft.eissn=1553-7404&rft.volume=13&rft.issue=3&rft.spage=e1006683&rft_id=info:doi/10.1371%2Fjournal.pgen.1006683&rft.externalDBID=NO_FULL_TEXT |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1553-7404&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1553-7404&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1553-7404&client=summon |