Suchergebnisse - "Ubiquitin Thiolesterase genetics"

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia: about three families with optic atrophy and ataxia

Autoren: C. Marelli F. Ramond C. Vignal et al.

Quelle: Journal of Neurology. 271:6038-6044

Schlagwörter: Male, Adult, 0301 basic medicine, 0303 health sciences, Optic Atrophy/genetics, Middle Aged, UCHL1, Pedigree, Optic Atrophy, 03 medical and health sciences, Autosomal dominant, Phenotype, Ubiquitin Thiolesterase/genetics, Ataxia/genetics, Mutation, Humans, Optic atrophy, Female, Ataxia, Ubiquitin Thiolesterase, Cerebellar ataxia

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39030458

Saturation genome editing of BAP1 functionally classifies somatic and germline variants

Autoren: Andrew J. Waters Timothy Brendler-Spaeth Danielle Smith et al.

Weitere Verfasser: Andrew J. Waters Timothy Brendler-Spaeth Danielle Smith et al.

Quelle: Nat Genet

Schlagwörter: Gene Editing, Male, Tumor Suppressor Proteins, Gene Editing/methods, Germ-Line Mutation/genetics, Neoplasms/genetics, Article, Pedigree, 3. Good health, Ubiquitin Thiolesterase/genetics, Neoplasms, Humans, Tumor Suppressor Proteins/genetics, Genetic Predisposition to Disease, Female, Ubiquitin Thiolesterase, Germ-Line Mutation

Dateibeschreibung: application/pdf; text/xml; application/zip

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38969833
https://hdl.handle.net/1887/4168784

Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants

Autoren: Kruthika R. Iyer Shoa L. Clarke Rodrigo Guarischi‐Sousa et al.

Quelle: J Am Heart Assoc
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 14, Iss 4 (2025)
Iyer, K R, Clarke, S L, Guarischi-Sousa, R, Gjoni, K, Heath, A S, Young, E P, Stitziel, N O, Laurie, C, Broome, J G, Khan, A T, Lewis, J P, Xu, H, Montasser, M E, Ashley, K E, Hasbani, N R, Boerwinkle, E, Morrison, A C, Chami, N, Do, R, Rocheleau, G, Lloyd-Jones, D M, Lemaitre, R N, Bis, J C, Floyd, J S, Kinney, G L, Bowden, D W, Palmer, N D, Benjamin, E J, Nayor, M, Yanek, L R, Kral, B G, Becker, L C, Kardia, S L R, Smith, J A, Bielak, L F, Norwood, A F, Min, Y-I, Carson, A P, Post, W S, Rich, S S, Herrington, D, Guo, X, Taylor, K D, Manson, J E, Franceschini, N, Pollard, K S, Mitchell, B D, Loos, R J F, Fornage, M, Hou, L, Psaty, B M, Young, K A, Regan, E A, Freedman, B I, Vasan, R S, Levy, D, Mathias, R A, Peyser, P A, Raffield, L M, Kooperberg, C, Reiner, A P, Rotter, J I, Jun, G, de Vries, P S & Assimes, T L 2025, ' Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants ', Journal of the American Heart Association, vol. 14, no. 4, e036499 . https://doi.org/10.1161/JAHA.124.036499
Journal of the American Heart Association, vol 14, iss 4

Schlagwörter: Male, Pair 6/genetics, Coronary Artery Disease, Cardiorespiratory Medicine and Haematology, Cardiovascular, Chromosomes, Human, Pair 17/genetics, Cardiovascular Medicine and Haematology, 2.1 Biological and endogenous factors, genetics, Original Research, Coronary Artery Disease/genetics, Single Nucleotide, Middle Aged, Genomic Structural Variation/genetics, Heart Disease, whole-genome sequencing, Ubiquitin Thiolesterase/genetics, Female, Chromosomes, Human, Pair 6, Pair 6, Pair 17/genetics, Ubiquitin Thiolesterase, coronary artery disease, Human, Chromosomes, Human, Pair 6/genetics, Cardiovascular medicine and haematology, Polymorphism, Single Nucleotide, Risk Assessment, Chromosomes, Clinical Research, Genetics, Diseases of the circulatory (Cardiovascular) system, Humans, Genetic Predisposition to Disease, Polymorphism, Heart Disease - Coronary Heart Disease, Aged, Biomedical and Clinical Sciences, Whole Genome Sequencing, Prevention, Pair 17, Human Genome, structural variants, Atherosclerosis, association testing, RC666-701, Case-Control Studies, Genomic Structural Variation, whole‐genome sequencing, Genome-Wide Association Study, Chromosomes, Human, Pair 17

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39950338
https://doaj.org/article/7c41aa0e05564b73ae5da986f8896fa1
https://curis.ku.dk/ws/files/430338460/iyer_et_al_2025_unveiling_the_genetic_landscape_of_coronary_artery_disease_through_common_and_rare_structural_variants.pdf
https://escholarship.org/uc/item/1ht9z9dq

Combination of EZH2 and ATM inhibition in BAP1-deficient mesothelioma

Autoren: Nick Landman Danielle Hulsman Jitendra Badhai et al.

Quelle: Br J Cancer

Schlagwörter: Mesothelioma, 0301 basic medicine, 0303 health sciences, Tumor Suppressor Proteins, Tumor Suppressor Proteins/deficiency [MeSH], Cell Line, Tumor [MeSH], Tumor Suppressor Proteins/genetics [MeSH], Drug Synergism [MeSH], Ubiquitin Thiolesterase/antagonists, Mesothelioma/drug therapy [MeSH], Enhancer of Zeste Homolog 2 Protein/antagonists, 631/67/1641, 692/308/575, Xenograft Model Antitumor Assays [MeSH], Mesothelioma/genetics [MeSH], Female [MeSH], Mesothelioma/pathology [MeSH], Ataxia Telangiectasia Mutated Proteins/genetics [MeSH], Humans [MeSH], Ubiquitin Thiolesterase/deficiency [MeSH], Enhancer of Zeste Homolog 2 Protein/genetics [MeSH], 692/308/2778, Animals [MeSH], Ataxia Telangiectasia Mutated Proteins/antagonists, Ataxia Telangiectasia Mutated Proteins/deficiency [MeSH], Mice [MeSH], Article, 692/4017, 692/4028/67/1641, Ubiquitin Thiolesterase/genetics [MeSH], article, Drug Synergism, Ataxia Telangiectasia Mutated Proteins, Xenograft Model Antitumor Assays, Mice, 03 medical and health sciences, Cell Line, Tumor, Humans, Animals, Enhancer of Zeste Homolog 2 Protein, Female, Ubiquitin Thiolesterase

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38519707
https://repository.publisso.de/resource/frl:6507648

A Scoping Review of Population Diversity in the Common Genomic Aberrations of Clear Cell Renal Cell Carcinoma

Autoren: Kumar, Sean S. Khandekar, Ninad Dani, Komal et al.

Quelle: Department of Medicine Faculty Publications

Schlagwörter: Biomarkers, Tumor/genetics, Carcinoma, Renal, Cell/genetics/pathology/epidemiology, Clear cell renal cell carcinoma, DNA binding proteins genetics, Genomic aberration, Genomic landscape, Genomics/methods, Histone Demethylases/genetics, Histone-Lysine N-Methyltransferase/genetics, Humans, Kidney Neoplasms/genetics/pathology, Nuclear proteins/genetics, Protein/genetics, Scoping review, TOR Serine-Threonine Kinases/genetics, Transcription factors/genetics, Tumor suppresor proteins/genetics, Ubiquitin thiolesterase/genetics, Von Hippel-Lindau Tumor Suppressor, Amino Acids, Peptides, and Proteins, Cancer Biology, Epidemiology, Genetics and Genomics, Oncology

Dateibeschreibung: application/pdf

Relation: https://digitalcommons.odu.edu/medicine_pubs/15; https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/viewcontent/Kumar_2025_AScopingReviewofPopulationDiversityOCR.pdf; https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/filename/0/type/additional/viewcontent/Supplementary_material_Supplementary_Table_1._Markers_MO_revise.docx; https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/filename/1/type/additional/viewcontent/Supplementary_material_Supplementary_Table_2._Pubmed_Search_Strategy.docx; https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/filename/2/type/additional/viewcontent/Supplementary_material_Supplementary_Table_3._Embase_Search_Strategy.docx; https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/filename/3/type/additional/viewcontent/Supplementary_material_Supplementary_Table_4._Characteristics_of_all_studies_included_3__1_.docx

Verfügbarkeit: https://digitalcommons.odu.edu/medicine_pubs/15
https://doi.org/10.1159/000541370
https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/viewcontent/Kumar_2025_AScopingReviewofPopulationDiversityOCR.pdf
https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/filename/0/type/additional/viewcontent/Supplementary_material_Supplementary_Table_1._Markers_MO_revise.docx
https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/filename/1/type/additional/viewcontent/Supplementary_material_Supplementary_Table_2._Pubmed_Search_Strategy.docx
https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/filename/2/type/additional/viewcontent/Supplementary_material_Supplementary_Table_3._Embase_Search_Strategy.docx
https://digitalcommons.odu.edu/context/medicine_pubs/article/1014/filename/3/type/additional/viewcontent/Supplementary_material_Supplementary_Table_4._Characteristics_of_all_studies_included_3__1_.docx

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

Autoren: Lalloo, Fiona Kulkarni, Anju Chau, Cindy et al.

Weitere Verfasser: Lalloo, Fiona Kulkarni, Anju Chau, Cindy et al.

Quelle: Eur J Hum Genet
Lalloo, F, Kulkarni, A, Chau, C, Nielsen, M, Sheaff, M, Steele, J, van Doorn, R, Wadt, K, Hamill, M, Torr, B, Tischkowitz, M, Hanson, H & Delphi respondents 2023, 'Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome', European Journal of Human Genetics, vol. 31, no. 11, pp. 1261-1269. https://doi.org/10.1038/s41431-023-01448-z
Lalloo, F, Kulkarni, A, Chau, C, Nielsen, M, Sheaff, M, Steele, J, van Doorn, R, Wadt, K, Hamill, M, Torr, B, Tischkowitz, M, Ahmed, M, Bajalica-Lagercrantz, S, Blatnik, A, Brunet, J, Cleaver, R, Colas, C, Dabir, T, Evans, D G, Feshtali, S, Ghiorzo, P, Graversen, L, Griewank, K, Helgadottir, H, Jewell, R, Kohut, K, Lorentzen, H, Massi, D, Missotten, G, Murray, A, Murray, J, Nadal, E, Ong, K R, Piulats, J M, Puig, S, Rajan, N, Ribero, S, Salle, G, Teulé, A, Tham, E, van Paassen, B, De Putter, R, Verdijk, R, Wagner, A, Woodward, E R & Hanson, H 2023, ' Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome ', European Journal of Human Genetics, vol. 31, pp. 1261–1269 . https://doi.org/10.1038/s41431-023-01448-z
Lalloo, F, Kulkarni, A, Chau, C, Nielsen, M, Sheaff, M, Steele, J, van, D R, Wadt, K, Hamill, M, Torr, B, Tischkowitz, M & respondents, D 2023, 'Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.', European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-023-01448-z
EUROPEAN JOURNAL OF HUMAN GENETICS

Schlagwörter: Mesothelioma, Tumor Suppressor Proteins, Medizin, Mesothelioma/diagnosis, Neoplastic Syndromes, Hereditary/diagnosis, Tumor Suppressor Proteins/genetics, Kidney Neoplasms/genetics, Article, Kidney Neoplasms, 3. Good health, Melanoma/genetics, Hereditary, SDG 3 - Good Health and Well-being, Ubiquitin Thiolesterase/genetics, Neoplastic Syndromes, Hereditary, Medicine and Health Sciences, Genetics, Humans, Neoplastic Syndromes, Genetic Predisposition to Disease, Melanoma, Ubiquitin Thiolesterase, Genetics (clinical), Germ-Line Mutation

Dateibeschreibung: application/pdf; text/xml; application/zip; Print-Electronic

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37607989
https://research.manchester.ac.uk/en/publications/039dbeef-3876-4d26-aa85-b666b4584793
https://doi.org/10.1038/s41431-023-01448-z
https://pure.au.dk/ws/files/393145411/s41431-023-01448-z.pdf
https://curis.ku.dk/ws/files/374561939/s41431_023_01448_z.pdf
https://research.manchester.ac.uk/en/publications/039dbeef-3876-4d26-aa85-b666b4584793
https://doi.org/10.1038/s41431-023-01448-z
http://europepmc.org/abstract/med/37607989
https://hdl.handle.net/1887/3714852
https://biblio.ugent.be/publication/01HQNH0CQX3EKSX4MH2CWXFMH3/file/01HQNH1G9880940GM4ZSQDF50S
http://doi.org/10.1038/s41431-023-01448-z
https://biblio.ugent.be/publication/01HQNH0CQX3EKSX4MH2CWXFMH3
http://hdl.handle.net/1854/LU-01HQNH0CQX3EKSX4MH2CWXFMH3

ISGylation-independent protection of cell growth by USP18 following interferon stimulation

Autoren: Anne Clancy Emma V. Rusilowicz-Jones Iona Wallace et al.

Quelle: Biochem J

Schlagwörter: ISG15, deubiquitylase, Cytokines/genetics, Ubiquitin, name=Biochemistry, name=Molecular Biology, Ubiquitins/genetics, HCT116 Cells, USP15, name=Cell Biology, interferons, Interferon Type I/metabolism, Ubiquitin Thiolesterase/genetics, Interferon Type I, Humans, Ubiquitin Thiolesterase, Cancer

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37756534

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

Autoren: Zhu, Gaofeng Badonyi, Mihaly Franklin, Lina et al.

Weitere Verfasser: Zhu, Gaofeng Badonyi, Mihaly Franklin, Lina et al.

Quelle: J Clin Immunol
Zhu, G, Badonyi, M, Franklin, L, Seabra, L, Rice, G I, Boland-Auge, A, Deleuze, J-F, El Chehadeh, S, Anheim, M, de Saint-Martin, A, Pellegrini, S, Marsh, J A, Crow, Y J & El-Daher, M-T 2023, ' Type I interferonopathy due to a homozygous loss-of-inhibitory-function mutation in STAT2 ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-023-01445-3
Zhu, G, Badonyi, M, Franklin, L, Seabra, L, Rice, G I, Anne-Boland-Auge, Deleuze, J-F, El-Chehadeh, S, Anheim, M, de Saint-Martin, A, Pellegrini, S, Marsh, J A, Crow, Y J & El-Daher, M-T 2023, 'Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2', Journal of clinical immunology, vol. 43, no. 4, pp. 808-818. https://doi.org/10.1007/s10875-023-01445-3
Journal of Clinical Immunology

Schlagwörter: Transcriptional Activation, 0301 basic medicine, Mutation/genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Antibodies, 03 medical and health sciences, Interferon Type I/genetics, Humans, STAT2 Transcription Factor/genetics, Type I interferonopathy, 0303 health sciences, Signal Transduction/physiology, Homozygote, STAT2 Transcription Factor, Interferon stimulated genes, 3. Good health, STAT2 · USP18, STAT1 Transcription Factor, STAT1 Transcription Factor/genetics, Gene Expression Regulation, Ubiquitin Thiolesterase/genetics, Interferon Type I, Mutation, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Original Article, Antibodies/genetics, Ubiquitin Thiolesterase, Signal Transduction

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36753016
https://research.manchester.ac.uk/en/publications/4642d5ec-a03b-4feb-92d9-74b70da1216c
https://doi.org/10.1007/s10875-023-01445-3
https://cea.hal.science/cea-04334216v1
https://cea.hal.science/cea-04334216v1/document
https://doi.org/10.1007/s10875-023-01445-3
https://www.pure.ed.ac.uk/ws/files/326045768/s10875_023_01445_3.pdf
https://hdl.handle.net/20.500.11820/9bb63ba1-c74a-44be-934d-7e534caa530d

USP8 prevents aberrant NF-κB and Nrf2 activation by counteracting ubiquitin signals from endosomes

Autoren: Akinori Endo Toshiaki Fukushima Chikage Takahashi et al.

Quelle: J Cell Biol

Schlagwörter: 0301 basic medicine, 0303 health sciences, Kelch-Like ECH-Associated Protein 1, Endosomal Sorting Complexes Required for Transport/genetics, Endosomal Sorting Complexes Required for Transport, NF-E2-Related Factor 2, Ubiquitin, NF-kappa B/genetics, NF-kappa B, Endosomes/genetics, Endosomes, Ubiquitin/genetics, Article, name=Cell Biology, 03 medical and health sciences, Ubiquitin Thiolesterase/genetics, Kelch-Like ECH-Associated Protein 1/genetics, Humans, NF-E2-Related Factor 2/genetics, Ubiquitin Thiolesterase

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38180476

Immune Phenotype-Genotype Associations in Primary Clear Cell Renal Cell Carcinoma and Matched Metastatic Tissue.

Autoren: Sobottka, B. Vetter, V. Banaei-Esfahani, A. et al.

Quelle: Modern pathology, vol. 37, no. 10, pp. 100558

Schlagwörter: Humans, Carcinoma, Renal Cell/genetics, Renal Cell/pathology, Renal Cell/immunology, Kidney Neoplasms/genetics, Kidney Neoplasms/pathology, Kidney Neoplasms/immunology, Female, Male, Middle Aged, Aged, Lymphocytes, Tumor-Infiltrating/immunology, Tumor-Infiltrating/pathology, CD8-Positive T-Lymphocytes/immunology, Phenotype, Biomarkers, Tumor/genetics, Adult, Tumor Microenvironment/immunology, Tumor Microenvironment/genetics, DNA Copy Number Variations, Ubiquitin Thiolesterase/genetics, Tumor Suppressor Proteins/genetics, 80 and over, Microsatellite Instability, Genotype, CD8+ T cells, clear cell renal cell carcinoma

Dateibeschreibung: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38969270; info:eu-repo/semantics/altIdentifier/eissn/1530-0285; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_AD338AA8E2F74; https://serval.unil.ch/notice/serval:BIB_AD338AA8E2F7; https://serval.unil.ch/resource/serval:BIB_AD338AA8E2F7.P001/REF.pdf

Verfügbarkeit: https://serval.unil.ch/notice/serval:BIB_AD338AA8E2F7
https://doi.org/10.1016/j.modpat.2024.100558
https://serval.unil.ch/resource/serval:BIB_AD338AA8E2F7.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_AD338AA8E2F74

Loss of USP28 and SPINT2 expression promotes cancer cell survival after whole genome doubling

Autoren: Sara Vanessa Bernhard Katarzyna Seget-Trzensiok Christian Kuffer et al.

Quelle: Cell Oncol (Dordr)
Cellular oncology

Schlagwörter: 0301 basic medicine, 0303 health sciences, Membrane Glycoproteins, Cell Survival, Cell Cycle Checkpoints, HCT116 Cells, Neoplasms [MeSH], Cancer, Humans [MeSH], Tumor Suppressor Protein p53/metabolism [MeSH], Cell Cycle Checkpoints/genetics [MeSH], NuMA1, Original Article, Tetraploidy, Membrane Glycoproteins/genetics [MeSH], Multipolarity, Cell cycle arrest, Cell Survival/genetics [MeSH], Tetraploidy [MeSH], SPINT2, USP28, HCT116 Cells [MeSH], Ubiquitin Thiolesterase/genetics [MeSH], Ubiquitin Thiolesterase/metabolism [MeSH], 3. Good health, 03 medical and health sciences, ddc:570, Neoplasms, Humans, Tumor Suppressor Protein p53, Ubiquitin Thiolesterase

Dateibeschreibung: application/pdf

Zugangs-URL: https://link.springer.com/content/pdf/10.1007/s13402-021-00654-5.pdf
https://pubmed.ncbi.nlm.nih.gov/34962618
http://hdl.handle.net/21.11116/0000-000A-1468-B
http://hdl.handle.net/21.11116/0000-000A-146A-9
https://repository.publisso.de/resource/frl:6444096

USP22 promotes HER2-driven mammary carcinoma aggressiveness by suppressing the unfolded protein response

Autoren: Evangelos Prokakis Upasana Bedi Robyn Laura Kosinsky et al.

Weitere Verfasser: Evangelos Prokakis Upasana Bedi Robyn Laura Kosinsky et al.

Quelle: Oncogene

Schlagwörter: Mice, Knockout, 0301 basic medicine, 0303 health sciences, Receptor, ErbB-2, Breast Neoplasms, Mice, Transgenic, Cancer models, Cell Line, Tumor [MeSH], Receptor, ErbB-2/metabolism [MeSH], Breast cancer, Databases, Genetic [MeSH], Receptor, ErbB-2/genetics [MeSH], Ubiquitylation, Mice, Transgenic [MeSH], Unfolded Protein Response [MeSH], Disease Models, Animal [MeSH], Breast Neoplasms/pathology [MeSH], Endoplasmic Reticulum Stress [MeSH], Ubiquitin Thiolesterase/metabolism [MeSH], Female [MeSH], Humans [MeSH], Breast Neoplasms/genetics [MeSH], Endoplasmic reticulum, Breast Neoplasms/metabolism [MeSH], Animals [MeSH], Mice, Knockout [MeSH], Survival Rate [MeSH], Mice [MeSH], Article, Prognosis [MeSH], Ubiquitin Thiolesterase/genetics [MeSH], Endoplasmic Reticulum Stress, Prognosis, 3. Good health, Survival Rate, Disease Models, Animal, Mice, 03 medical and health sciences, Cell Line, Tumor, Databases, Genetic, Unfolded Protein Response, Animals, Humans, Female, Ubiquitin Thiolesterase

Dateibeschreibung: application/pdf; application/zip; text/xml

Zugangs-URL: https://www.nature.com/articles/s41388-021-01814-5.pdf
https://pubmed.ncbi.nlm.nih.gov/34007022
https://pubmed.ncbi.nlm.nih.gov/34007022/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8195738
http://pubmed.ncbi.nlm.nih.gov/34007022/
https://www.nature.com/articles/s41388-021-01814-5
https://mayoclinic.pure.elsevier.com/en/publications/usp22-promotes-her2-driven-mammary-carcinoma-aggressiveness-by-su
https://europepmc.org/article/MED/34007022
https://resolver.sub.uni-goettingen.de/purl?gro-2/84989
https://repository.publisso.de/resource/frl:6443692

Organoid models of fibrolamellar carcinoma mutations reveal hepatocyte transdifferentiation through cooperative BAP1 and PRKAR2A loss

Autoren: Laura Rüland Francesco Andreatta Simone Massalini et al.

Weitere Verfasser: Laura Rüland Francesco Andreatta Simone Massalini et al.

Quelle: Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)

Schlagwörter: Hepatocellular/metabolism, Carcinoma, Hepatocellular, Science, General Biochemistry,Genetics and Molecular Biology, General Physics and Astronomy, Tumor Suppressor Proteins/genetics, Article, Liver Neoplasms/metabolism, Cyclic AMP-Dependent Protein Kinase RIIalpha Subunit, Organoids/metabolism, Humans, Tumor Suppressor Proteins, Carcinoma, Liver Neoplasms, Cell Transdifferentiation/genetics, Hepatocytes/metabolism, General Chemistry, HSP40 Heat-Shock Proteins, 3. Good health, Organoids, Ubiquitin Thiolesterase/genetics, Cell Transdifferentiation, Mutation, Hepatocytes, Ubiquitin Thiolesterase, HSP40 Heat-Shock Proteins/metabolism, Cyclic AMP-Dependent Protein Kinase RIIalpha Subunit/genetics

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37137901
https://doaj.org/article/99e2cf8fc901400ca1ace1c5e4c2a58d
https://pure.knaw.nl/portal/en/publications/9c906605-9400-4449-884a-c3f63d5a8045
https://hdl.handle.net/20.500.11755/9c906605-9400-4449-884a-c3f63d5a8045
https://doi.org/10.1038/s41467-023-37951-6
https://dspace.library.uu.nl/handle/1874/451175

Deletion of mu- and kappa-opioid receptors in mice changes epidermal hypertrophy, density of peripheral nerve endings, and itch behavior.

Autoren: Bigliardi-Qi, M. Gaveriaux-Ruff, C. Pfaltz, K. et al.

Schlagwörter: Animals, Brain/physiology, CD4-Positive T-Lymphocytes, Chronic Disease, Dermatitis/pathology, Dermatitis/physiopathology, Dermis/innervation, Dermis/pathology, Epidermis/innervation, Epidermis/pathology, Female, Gene Expression/physiology, Homeostasis/physiology, Hypertrophy, Male, Mast Cells/physiology, Mice, Inbred C57BL, Knockout, Nerve Endings/pathology, Pruritus/pathology, Pruritus/physiopathology, RNA, Messenger/metabolism, Receptors, Opioid, kappa/genetics, mu/genetics, Substance P/metabolism, Ubiquitin Thiolesterase/genetics

Relation: Journal of Investigative Dermatology; 1523-1747[electronic]; https://iris.unil.ch/handle/iris/192155; serval:BIB_C74619B86B0C; 000246618300030

Verfügbarkeit: https://iris.unil.ch/handle/iris/192155
https://doi.org/10.1038/sj.jid.5700661

Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma

Autoren: van de Pol, Jeroen A A Ferronika, Paranita Westers, Helga et al.

Quelle: van de Pol, J A A, Ferronika, P, Westers, H, van Engeland, M, Terpstra, M M, Smits, K M, de Lange, K, van den Brandt, P A, Sijmons, R H, Schouten, L J & Kok, K 2022, 'Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma', Scientific Reports, vol. 12, no. 1, 6478. https://doi.org/10.1038/s41598-022-10455-x

Schlagwörter: Carcinoma, Renal Cell/pathology, Cohort Studies, Female, Humans, Kidney Neoplasms/pathology, Male, Mutation, Nuclear Proteins/genetics, Prognosis, Prospective Studies, Tumor Suppressor Proteins/genetics, Ubiquitin Thiolesterase/genetics, STAGE, SIZE, CANCER, TUMOR AGGRESSIVENESS, SOMATIC MUTATIONS, POOR SURVIVAL, ABSENCE, OUTCOMES, EXPRESSION, BAP1

Relation: info:eu-repo/semantics/altIdentifier/pmid/35444164; info:eu-repo/semantics/altIdentifier/wos/000784990500051; info:eu-repo/semantics/altIdentifier/pissn/2045-2322

Verfügbarkeit: https://cris.maastrichtuniversity.nl/en/publications/1c6cb030-1778-47cb-92eb-623d5be4a56c
https://doi.org/10.1038/s41598-022-10455-x
https://www.scopus.com/pages/publications/85128472716

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients

Weitere Verfasser: Woo Seung Lee Junwon Lee Jun Jeong Choi et al.

Schlagwörter: Adult, Aged, Asia, Brachytherapy, DNA Mutational Analysis, Female, GTP-Binding Protein alpha Subunits / genetics, GTP-Binding Protein alpha Subunits, Gq-G11 / genetics, Humans, Male, Matched-Pair Analysis, Melanoma / genetics, Melanoma / pathology, Melanoma / radiotherapy, Middle Aged, Mutation, Phosphoproteins / genetics, RNA Splicing Factors / genetics, Receptors, Leukotriene / genetics, Tumor Suppressor Proteins / genetics, Ubiquitin Thiolesterase / genetics, Uveal Neoplasms / genetics, Uveal Neoplasms / pathology, Uveal Neoplasms / radiotherapy

Dateibeschreibung: application/pdf

Relation: SCIENTIFIC REPORTS; J02646; https://ir.ymlib.yonsei.ac.kr/handle/22282913/187831; T202125447

Verfügbarkeit: https://ir.ymlib.yonsei.ac.kr/handle/22282913/187831
https://doi.org/10.1038/s41598-021-98084-8

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic

Autoren: Sandro Santagata Fred G. Barker Radwa Sharaf et al.

Quelle: Acta Neuropathol Commun
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-10 (2020)

Schlagwörter: Adult, Male, 0301 basic medicine, Adolescent, Class I Phosphatidylinositol 3-Kinases, TERT, Infant, Newborn [MeSH], Disease Progression [MeSH], Tumor Suppressor Proteins/genetics [MeSH], Aged, 80 and over [MeSH], Neoplasm Grading [MeSH], Aged [MeSH], NF2, Transcription Factors/genetics [MeSH], Meningeal Neoplasms/classification [MeSH], Meningioma/genetics [MeSH], Metastatic, DNA-Binding Proteins/genetics [MeSH], PBRM1, Proto-Oncogene Proteins c-akt/genetics [MeSH], Genomics [MeSH], Infant [MeSH], Male [MeSH], Meningioma/pathology [MeSH], Meningioma/classification [MeSH], Meningioma, Child [MeSH], Sex Factors [MeSH], Meningeal Neoplasms/pathology [MeSH], Adolescent [MeSH], Female [MeSH], Telomerase/genetics [MeSH], Adult [MeSH], Humans [MeSH], Smoothened Receptor/genetics [MeSH], Middle Aged [MeSH], Tumor Suppressor Protein p53/genetics [MeSH], Cyclin-Dependent Kinase Inhibitor p16/genetics [MeSH], Neurofibromin 2/genetics [MeSH], Promoter Regions, Genetic/genetics [MeSH], CDKN2A, Progressive, Meningeal Neoplasms/genetics [MeSH], Histone Demethylases/genetics [MeSH], Research, Class I Phosphatidylinositol 3-Kinases/genetics [MeSH], Young Adult [MeSH], KDM6A, 1p loss, Ubiquitin Thiolesterase/genetics [MeSH], Child, Preschool [MeSH], 03 medical and health sciences, Meningeal Neoplasms, Humans, RC346-429, Child, Cyclin-Dependent Kinase Inhibitor p16, Aged, Aged, 80 and over, Histone Demethylases, 0303 health sciences, Infant, Newborn, Infant, Genomics, Middle Aged, 3. Good health, DNA-Binding Proteins, Child, Preschool, Disease Progression, Female, Neurology. Diseases of the nervous system

Zugangs-URL: https://actaneurocomms.biomedcentral.com/track/pdf/10.1186/s40478-020-01040-2
https://pubmed.ncbi.nlm.nih.gov/33087175
https://doaj.org/article/35b60a8f99044ddca1ea6cdff6638aa2
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580027
https://link.springer.com/content/pdf/10.1186/s40478-020-01040-2.pdf
https://pubmed.ncbi.nlm.nih.gov/33087175/
https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-020-01040-2
https://europepmc.org/article/MED/33087175
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7580027
https://repository.publisso.de/resource/frl:6452334

Antagonistic activities of CDC14B and CDK1 on USP9X regulate WT1-dependent mitotic transcription and survival.

Autoren: Dietachmayr, Michael Rathakrishnan, Abirami Gloeckner, Christian Johannes et al.

Quelle: Nature Communications 11(1), 1268 (2020). doi:10.1038/s41467-020-15059-5

Schlagwörter: info:eu-repo/classification/ddc/500, A549 Cells, Apoptosis, CDC2 Protein Kinase: antagonists & inhibitors, Dual-Specificity Phosphatases: antagonists & inhibitors, Gene Knockdown Techniques, HEK293 Cells, HeLa Cells, Humans, Interleukin-8: metabolism, Mitosis: physiology, Phosphorylation, Transcription Factors, Ubiquitin Thiolesterase: drug effects, Ubiquitin Thiolesterase: genetics, Ubiquitin Thiolesterase: metabolism, WT1 Proteins: genetics, WT1 Proteins: metabolism, CXCL8 protein, human, Interleukin-8, USP9X protein, WT1 Proteins, WT1 protein, CDC2 Protein Kinase, CDK1 protein, CDC14B protein, Dual-Specificity Phosphatases, Ubiquitin Thiolesterase

Geographisches Schlagwort: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/2041-1723; info:eu-repo/semantics/altIdentifier/pmid/pmid:32152317; https://pub.dzne.de/record/153412

Verfügbarkeit: https://pub.dzne.de/record/153412
https://pub.dzne.de/search?p=id:%22DZNE-2020-01409%22

Ubiquitin Carboxyl-Terminal Hydrolases (UCHs): Potential Mediators for Cancer and Neurodegeneration.

Autoren: Sharma, Amit Liu, Hongde Tobar-Tosse, Fabian et al.

Quelle: International journal of molecular sciences 21(11), 3910 - (2020). doi:10.3390/ijms21113910

Schlagwörter: info:eu-repo/classification/ddc/540, Brain: metabolism, Databases, Genetic, Gene Expression Profiling, Gene Expression Regulation, Humans, Neoplasms: enzymology, Neurodegenerative Diseases: enzymology, Phenotype, Prognosis, Protein Domains, Tumor Suppressor Proteins: metabolism, Ubiquitin Thiolesterase: genetics, Ubiquitin Thiolesterase: metabolism, Ubiquitination

Geographisches Schlagwort: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:32486284; info:eu-repo/semantics/altIdentifier/issn/1661-6596; info:eu-repo/semantics/altIdentifier/issn/1422-0067; https://pub.dzne.de/record/153373

Verfügbarkeit: https://pub.dzne.de/record/153373
https://pub.dzne.de/search?p=id:%22DZNE-2020-01370%22

Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing

Autoren: Ann Schalenbourg Ikram El Zaoui Donata Rimoldi et al.

Quelle: American journal of human genetics, vol. 99, no. 5, pp. 1190-1198
American journal of human genetics

Schlagwörter: Adult, Aged, Aged, 80 and over, Case-Control Studies, DNA Copy Number Variations, Eukaryotic Initiation Factor-1/genetics, Eukaryotic Initiation Factor-1/metabolism, Exons, Female, GTP-Binding Protein alpha Subunits/genetics, GTP-Binding Protein alpha Subunits/metabolism, GTP-Binding Protein alpha Subunits, Gq-G11/genetics, GTP-Binding Protein alpha Subunits, Gq-G11/metabolism, Genome-Wide Association Study, Humans, Male, Melanocytes/pathology, Melanoma/diagnosis, Melanoma/genetics, Membrane Proteins/genetics, Membrane Proteins/metabolism, Middle Aged, Mutation, Phosphoproteins/genetics, Phosphoproteins/metabolism, RNA Splicing Factors/genetics, RNA Splicing Factors/metabolism, Skin Neoplasms, Tumor Suppressor Proteins/genetics, Tumor Suppressor Proteins/metabolism, Tumor Suppressor p53-Binding Protein 1/genetics, Tumor Suppressor p53-Binding Protein 1/metabolism, Ubiquitin Thiolesterase/genetics, Ubiquitin Thiolesterase/metabolism, Ubiquitin-Protein Ligases/genetics, Ubiquitin-Protein Ligases/metabolism, Uveal Neoplasms/diagnosis, Uveal Neoplasms/genetics, 0301 basic medicine, 0303 health sciences, Eukaryotic Initiation Factor-1, Membrane Proteins, Phosphoproteins, GTP-Binding Protein alpha Subunits, 3. Good health, 03 medical and health sciences, GTP-Binding Protein alpha Subunits, Gq-G11, Melanocytes, RNA Splicing Factors, Melanoma

Dateibeschreibung: application/pdf

Zugangs-URL: http://www.cell.com/article/S0002929716303883/pdf
https://pubmed.ncbi.nlm.nih.gov/27745836
https://www.sciencedirect.com/science/article/pii/S0002929716303883#!
https://serval.unil.ch/resource/serval:BIB_035A22A1A6AE.P001/REF.pdf
https://www.ncbi.nlm.nih.gov/pubmed/27745836
https://europepmc.org/articles/PMC5097942
https://serval.unil.ch/notice/serval:BIB_035A22A1A6AE
https://edoc.unibas.ch/81701/
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_035A22A1A6AE3
https://serval.unil.ch/notice/serval:BIB_035A22A1A6AE
https://serval.unil.ch/resource/serval:BIB_035A22A1A6AE.P001/REF.pdf