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Wyszukujesz frazę ""RNA splicing"" wg kryterium: Temat


Tytuł :
The SF3b complex: splicing and beyond.
Autorzy :
Sun C; Non-coding RNA and Drug Discovery Key Laboratory of Sichuan Province, Chengdu Medical College, Chengdu, 610500, China. .
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Źródło :
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2020 Sep; Vol. 77 (18), pp. 3583-3595. Date of Electronic Publication: 2020 Mar 05.
Typ publikacji :
Journal Article; Review
MeSH Terms :
RNA Splicing*
Multiprotein Complexes/*metabolism
RNA Splicing Factors/*metabolism
Humans ; Multiprotein Complexes/chemistry ; Neoplasms/metabolism ; Neoplasms/pathology ; Protein Structure, Quaternary ; RNA Precursors/metabolism ; RNA Splicing Factors/chemistry ; RNA, Messenger/metabolism ; Ribonucleoproteins, Small Nuclear/metabolism
Czasopismo naukowe
Tytuł :
O-GlcNAc regulates gene expression by controlling detained intron splicing.
Autorzy :
Tan ZW; Department of Microbiology, Harvard Medical School, Boston, MA 02115, USA.
Fei G; Department of Microbiology, Harvard Medical School, Boston, MA 02115, USA.
Paulo JA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Bellaousov S; Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Martin SES; Department of Microbiology, Harvard Medical School, Boston, MA 02115, USA.
Duveau DY; National Institutes of Health Chemical Genomics Center, Rockville, MD 20850, USA.
Thomas CJ; National Institutes of Health Chemical Genomics Center, Rockville, MD 20850, USA.
Gygi SP; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Boutz PL; Department of Biochemistry and Biophysics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.; Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA.; Center for Biomedical Informatics, University of Rochester, Rochester, NY 14642, USA.; Wilmot Cancer Institute, University of Rochester Medical Center, Rochester, NY 14642, USA.
Walker S; Department of Microbiology, Harvard Medical School, Boston, MA 02115, USA.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2020 Jun 04; Vol. 48 (10), pp. 5656-5669.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Introns*
RNA Splicing*
Acetylglucosamine/*metabolism
Glycoside Hydrolases/*genetics
N-Acetylglucosaminyltransferases/*genetics
Cell Line ; Glycoside Hydrolases/metabolism ; HEK293 Cells ; Humans ; N-Acetylglucosaminyltransferases/antagonists & inhibitors ; N-Acetylglucosaminyltransferases/metabolism ; Phosphorylation ; RNA Splicing Factors/metabolism ; RNA, Messenger/metabolism ; RNA-Seq
Czasopismo naukowe
Tytuł :
Clinicopathologic characterisation of myeloid neoplasms with concurrent spliceosome mutations and myeloproliferative-neoplasm-associated mutations.
Autorzy :
Liu YC; Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Illar GM; Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Bailey NG; Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA .
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Źródło :
Journal of clinical pathology [J Clin Pathol] 2020 Nov; Vol. 73 (11), pp. 728-736. Date of Electronic Publication: 2020 Mar 26.
Typ publikacji :
Journal Article
MeSH Terms :
Leukemia/*pathology
Myelodysplastic Syndromes/*pathology
Myeloproliferative Disorders/*pathology
RNA Splicing Factors/*genetics
Spliceosomes/*genetics
Thrombocytosis/*pathology
Cohort Studies ; Cytogenetics ; Genotype ; Humans ; Leukemia/genetics ; Mutation ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Pathology, Molecular ; Phenotype ; RNA Splicing/genetics ; RNA Splicing Factors/metabolism ; Thrombocytosis/diagnosis ; Thrombocytosis/genetics
Czasopismo naukowe
Tytuł :
Clinical presentation and differential splicing of SRSF2, U2AF1 and SF3B1 mutations in patients with acute myeloid leukemia.
Autorzy :
Bamopoulos SA; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany. .; Department of Hematology, Oncology and Tumor Immunology (Campus Benjamin Franklin), Charité University Medicine Berlin, Berlin, Germany. .
Batcha AMN; Institute for Medical Information Processing Biometry and Epidemiology, LMU Munich, Munich, Germany.; DIFUTURE (Data Integration for Future Medicine (DiFuture, www.difuture.de), LMU Munich, Munich, Germany.
Jurinovic V; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.; Institute for Medical Information Processing Biometry and Epidemiology, LMU Munich, Munich, Germany.
Rothenberg-Thurley M; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.
Janke H; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.
Ksienzyk B; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.
Philippou-Massier J; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Munich, Germany.
Graf A; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Munich, Germany.
Krebs S; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Munich, Germany.
Blum H; Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Munich, Germany.
Schneider S; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.; Institute of Human Genetics, University Hospital, LMU Munich, Munich, Germany.
Konstandin N; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.
Sauerland MC; Institute of Biostatistics and Clinical Research, University of Münster, Münster, Germany.
Görlich D; Institute of Biostatistics and Clinical Research, University of Münster, Münster, Germany.
Berdel WE; Department of Medicine, Hematology and Oncology, University of Münster, Münster, Germany.
Woermann BJ; German Society of Hematology and Oncology, Berlin, Germany.
Bohlander SK; Leukemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.
Canzar S; Gene Center, LMU Munich, Munich, Germany.
Mansmann U; Institute for Medical Information Processing Biometry and Epidemiology, LMU Munich, Munich, Germany.; DIFUTURE (Data Integration for Future Medicine (DiFuture, www.difuture.de), LMU Munich, Munich, Germany.; German Cancer Consortium (DKTK), Partner Site Munich, Munich, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hiddemann W; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.; German Cancer Consortium (DKTK), Partner Site Munich, Munich, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
Braess J; Department of Oncology and Hematology, Hospital Barmherzige Brüder, Regensburg, Germany.
Spiekermann K; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.; German Cancer Consortium (DKTK), Partner Site Munich, Munich, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
Metzeler KH; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.; German Cancer Consortium (DKTK), Partner Site Munich, Munich, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
Herold T; Laboratory for Leukemia Diagnostics, Department of Medicine III, University Hospital, LMU Munich, Munich, Germany. .; German Cancer Consortium (DKTK), Partner Site Munich, Munich, Germany. .; Research Unit Apoptosis in Hematopoietic Stem Cells, Helmholtz Zentrum München, German Center for Environmental Health (HMGU), Munich, Germany. .
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Źródło :
Leukemia [Leukemia] 2020 Oct; Vol. 34 (10), pp. 2621-2634. Date of Electronic Publication: 2020 May 01.
Typ publikacji :
Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
RNA Splicing*
Leukemia, Myeloid, Acute/*genetics
Phosphoproteins/*genetics
RNA Splicing Factors/*genetics
Serine-Arginine Splicing Factors/*genetics
Splicing Factor U2AF/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged ; Young Adult
Czasopismo naukowe
Tytuł :
Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy.
Autorzy :
Misra C; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Bangru S; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Cancer Center at Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Lin F; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Lam K; Department of Physics, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Centers for Macromolecular Modeling, Bioinformatics and Experimental Molecular Imaging at Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Koenig SN; Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, College of Medicine, Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
Lubbers ER; Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, College of Medicine, Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
Hedhli J; Department of Bioengineering, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Centers for Macromolecular Modeling, Bioinformatics and Experimental Molecular Imaging at Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Murphy NP; Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, College of Medicine, Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
Parker DJ; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Dobrucki LW; Department of Bioengineering, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Centers for Macromolecular Modeling, Bioinformatics and Experimental Molecular Imaging at Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Cancer Center at Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Cooper TA; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.
Tajkhorshid E; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Department of Physics, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Department of Bioengineering, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Centers for Macromolecular Modeling, Bioinformatics and Experimental Molecular Imaging at Beckman Institute for Advanced Science and Technology, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Cancer Center at Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA.
Mohler PJ; Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, College of Medicine, Wexner Medical Center, The Ohio State University, Columbus, OH, USA.
Kalsotra A; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Carl R. Woese Institute for Genomic Biology, University of Illinois, Urbana-Champaign, Urbana, IL, USA; Cancer Center at Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA. Electronic address: .
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Źródło :
Developmental cell [Dev Cell] 2020 Mar 23; Vol. 52 (6), pp. 748-763.e6. Date of Electronic Publication: 2020 Feb 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Action Potentials*
Heart Rate*
RNA Splicing*
Myotonic Dystrophy/*genetics
RNA Splicing Factors/*genetics
Repressor Proteins/*genetics
Adult ; Animals ; Cells, Cultured ; Female ; Humans ; Male ; Mice, Inbred C57BL ; Mice, Inbred ICR ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Middle Aged ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/physiology ; Myotonic Dystrophy/metabolism ; Myotonic Dystrophy/physiopathology ; Potassium Channels, Voltage-Gated/genetics ; Potassium Channels, Voltage-Gated/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; RNA Splicing Factors/metabolism ; Repressor Proteins/metabolism ; Voltage-Gated Sodium Channels/genetics ; Voltage-Gated Sodium Channels/metabolism
Czasopismo naukowe
Tytuł :
Splicing Kinetics and Coordination Revealed by Direct Nascent RNA Sequencing through Nanopores.
Autorzy :
Drexler HL; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA.
Choquet K; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA.
Churchman LS; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA. Electronic address: .
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Źródło :
Molecular cell [Mol Cell] 2020 Mar 05; Vol. 77 (5), pp. 985-998.e8. Date of Electronic Publication: 2019 Dec 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Nanopore Sequencing*
Nanopores*
RNA Splicing*
Transcriptome*
RNA Precursors/*metabolism
RNA, Messenger/*metabolism
Sequence Analysis, RNA/*methods
Animals ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Drosophila melanogaster ; Humans ; Introns ; K562 Cells ; Kinetics ; RNA Polymerase II/genetics ; RNA Polymerase II/metabolism ; RNA Precursors/genetics ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; RNA, Messenger/genetics ; Transcription, Genetic
Czasopismo naukowe
Tytuł :
[Understanding and therapeutic targeting of aberrant mRNA splicing mechanisms in oncogenesis].
Autorzy :
Tanaka A; Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe.; Department of Immunology, Institute for Frontier Medical Sciences, Kyoto University.
Kobayashi S; Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe.; Division of Cellular Therapy, The Institute of Medical Science, The University of Tokyo.
Xiao M; Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe.; Division of Cellular Therapy, The Institute of Medical Science, The University of Tokyo.
Inoue D; Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe.; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center.
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Źródło :
[Rinsho ketsueki] The Japanese journal of clinical hematology [Rinsho Ketsueki] 2020; Vol. 61 (6), pp. 643-650.
Typ publikacji :
Journal Article
MeSH Terms :
RNA Splicing*
Carcinogenesis ; Humans ; Mutation ; Phosphoproteins ; RNA Splicing Factors ; RNA, Messenger ; Transcription Factors
Czasopismo naukowe
Tytuł :
Prognostic significance of SF3B1 mutations in patients with myelodysplastic syndromes: A meta-analysis.
Autorzy :
Jafari PA; Department of Hematology and Blood Banking, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address: .
Sadeghian MH; Department of Hematology and Blood Banking, cancer Molecular Pathology Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Miri HH; Department Epidemiology and Biostatistics, School of Health, Mashhad University of Medical Sciences, Mashhad, Iran.
Sadeghi R; Department of Nuclear Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Bagheri R; Department of Hematology and Blood Banking, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Lavasani S; Department of Virology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Souri S; Department of Pharmacodynamics and Toxicology, School of Pharmacy Mashhad University of Medical Sciences, Mashhad, Iran.
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Źródło :
Critical reviews in oncology/hematology [Crit Rev Oncol Hematol] 2020 Jan; Vol. 145, pp. 102832. Date of Electronic Publication: 2019 Nov 15.
Typ publikacji :
Journal Article; Meta-Analysis
MeSH Terms :
Myelodysplastic Syndromes*/diagnosis
Myelodysplastic Syndromes*/genetics
Phosphoproteins*/genetics
RNA Splicing Factors*/genetics
Humans ; Mutation ; Prognosis ; Prospective Studies ; RNA Splicing ; Survival Analysis
Czasopismo naukowe
Tytuł :
Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1.
Autorzy :
Zhang J; Department of Biological Sciences, Columbia University, New York, NY 10027, USA.
Ali AM; Irving Cancer Research Center, Columbia University, New York, NY 10032, USA.
Lieu YK; Department of Biological Sciences, Columbia University, New York, NY 10027, USA; Irving Cancer Research Center, Columbia University, New York, NY 10032, USA.
Liu Z; Department of Systems Biology, Columbia University, New York, NY 10032, USA; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
Gao J; Department of Biological Sciences, Columbia University, New York, NY 10027, USA.
Rabadan R; Department of Systems Biology, Columbia University, New York, NY 10032, USA; Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
Raza A; Irving Cancer Research Center, Columbia University, New York, NY 10032, USA; Division of Hematology/Oncology, Department of Medicine, Columbia University, New York, NY 10032, USA.
Mukherjee S; Irving Cancer Research Center, Columbia University, New York, NY 10032, USA; Division of Hematology/Oncology, Department of Medicine, Columbia University, New York, NY 10032, USA. Electronic address: .
Manley JL; Department of Biological Sciences, Columbia University, New York, NY 10027, USA. Electronic address: .
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Źródło :
Molecular cell [Mol Cell] 2019 Oct 03; Vol. 76 (1), pp. 82-95.e7. Date of Electronic Publication: 2019 Aug 29.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
RNA Splicing*
Leukemia, Erythroblastic, Acute/*metabolism
Myelodysplastic Syndromes/*metabolism
Phosphoproteins/*metabolism
RNA Splicing Factors/*metabolism
Spliceosomes/*metabolism
Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; K562 Cells ; Leukemia, Erythroblastic, Acute/genetics ; Leukemia, Erythroblastic, Acute/pathology ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/pathology ; Phenotype ; Phosphoproteins/genetics ; Protein Binding ; RNA Splicing Factors/genetics ; Spliceosomes/genetics ; Spliceosomes/pathology
Czasopismo naukowe
Tytuł :
Spliceosomal disruption of the non-canonical BAF complex in cancer.
Autorzy :
Inoue D; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Japan.
Chew GL; Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.; Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Liu B; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Michel BC; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Biomedical and Biological Sciences Program, Harvard Medical School, Boston, MA, USA.
Pangallo J; Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.; Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
D'Avino AR; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Biomedical and Biological Sciences Program, Harvard Medical School, Boston, MA, USA.
Hitchman T; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
North K; Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.; Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Lee SC; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Bitner L; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Block A; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Moore AR; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Yoshimi A; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Escobar-Hoyos L; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Cho H; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Penson A; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Lu SX; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Taylor J; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Chen Y; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Kadoch C; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Biomedical and Biological Sciences Program, Harvard Medical School, Boston, MA, USA.
Abdel-Wahab O; Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA. .; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA. .
Bradley RK; Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. .; Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. .; Department of Genome Sciences, University of Washington, Seattle, WA, USA. .
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Źródło :
Nature [Nature] 2019 Oct; Vol. 574 (7778), pp. 432-436. Date of Electronic Publication: 2019 Oct 09.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
RNA Splicing*
Chromosomal Proteins, Non-Histone/*metabolism
Neoplasms/*genetics
Spliceosomes/*metabolism
Animals ; Cell Line, Tumor ; Chromatin Assembly and Disassembly/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Humans ; Mice ; Neoplasm Transplantation ; Neoplasms/pathology ; Phosphoproteins/metabolism ; RNA Splicing Factors/metabolism ; Spliceosomes/genetics ; Transcription Factors/metabolism
Czasopismo naukowe
Tytuł :
Pan-cancer analysis identifies mutations in SUGP1 that recapitulate mutant SF3B1 splicing dysregulation.
Autorzy :
Liu Z; Program for Mathematical Genomics, Columbia University, New York, NY 10032.; Department of Systems Biology, Columbia University, New York, NY 10032.; Department of Biomedical Informatics, Columbia University, New York, NY 10032.
Zhang J; Department of Biological Sciences, Columbia University, New York, NY 10027.
Sun Y; Program for Mathematical Genomics, Columbia University, New York, NY 10032.; Department of Biomedical Informatics, Columbia University, New York, NY 10032.
Perea-Chamblee TE; Program for Mathematical Genomics, Columbia University, New York, NY 10032.; Department of Systems Biology, Columbia University, New York, NY 10032.; Department of Biomedical Informatics, Columbia University, New York, NY 10032.
Manley JL; Department of Biological Sciences, Columbia University, New York, NY 10027 .
Rabadan R; Program for Mathematical Genomics, Columbia University, New York, NY 10032; .; Department of Systems Biology, Columbia University, New York, NY 10032.; Department of Biomedical Informatics, Columbia University, New York, NY 10032.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 May 12; Vol. 117 (19), pp. 10305-10312. Date of Electronic Publication: 2020 Apr 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
RNA Splice Sites*
RNA Splicing*
Computational Biology/*methods
Neoplasms/*genetics
Phosphoproteins/*genetics
RNA Splicing Factors/*genetics
DNA Mutational Analysis ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Neoplasms/pathology ; Spliceosomes
Czasopismo naukowe
Tytuł :
RNA processing errors triggered by cadmium and integrator complex disruption are signals for environmental stress.
Autorzy :
Wu CW; Department of Veterinary Biomedical Sciences, Western College of Veterinary Medicine, University of Saskatchewan, 52 Campus Drive, Saskatoon, SK, S7N 5B4, Canada. .; Department of Biology and Genetics Institute, University of Florida, Gainesville, FL, 32611, USA. .; Toxicology Centre, University of Saskatchewan, Saskatoon, SK, S7N 5B3, Canada. .
Wimberly K; Department of Biology and Genetics Institute, University of Florida, Gainesville, FL, 32611, USA.
Pietras A; Department of Biology and Genetics Institute, University of Florida, Gainesville, FL, 32611, USA.
Dodd W; Department of Biology and Genetics Institute, University of Florida, Gainesville, FL, 32611, USA.
Atlas MB; Department of Biology and Genetics Institute, University of Florida, Gainesville, FL, 32611, USA.
Choe KP; Department of Biology and Genetics Institute, University of Florida, Gainesville, FL, 32611, USA. .
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Źródło :
BMC biology [BMC Biol] 2019 Jul 16; Vol. 17 (1), pp. 56. Date of Electronic Publication: 2019 Jul 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Gene Expression Regulation*
RNA Splicing*
Cadmium/*toxicity
Caenorhabditis elegans/*physiology
Heat-Shock Response/*physiology
RNA Processing, Post-Transcriptional/*physiology
Animals ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans Proteins/genetics ; Caenorhabditis elegans Proteins/metabolism ; Heat-Shock Response/genetics ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; RNA, Small Nuclear/genetics ; RNA, Small Nuclear/metabolism ; Stress, Physiological
Czasopismo naukowe
Tytuł :
Early splicing functions of fission yeast Prp16 and its unexpected requirement for gene Silencing is governed by intronic features.
Autorzy :
Vijayakumari D; a Department of Microbiology and Cell Biology , Indian Institute of Science , Bangalore , India.
Sharma AK; a Department of Microbiology and Cell Biology , Indian Institute of Science , Bangalore , India.
Bawa PS; b Institute of Bioinformatics and Applied Biotechnology , Bangalore , India.
Kumar R; a Department of Microbiology and Cell Biology , Indian Institute of Science , Bangalore , India.
Srinivasan S; b Institute of Bioinformatics and Applied Biotechnology , Bangalore , India.
Vijayraghavan U; a Department of Microbiology and Cell Biology , Indian Institute of Science , Bangalore , India.
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Źródło :
RNA biology [RNA Biol] 2019 Jun; Vol. 16 (6), pp. 754-769. Date of Electronic Publication: 2019 Mar 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Expression Regulation, Fungal*
Gene Silencing*
Introns*
RNA Splicing*
Adenosine Triphosphatases/*physiology
RNA Helicases/*physiology
RNA Splicing Factors/*physiology
Schizosaccharomyces/*genetics
Schizosaccharomyces pombe Proteins/*physiology
Adenosine Triphosphatases/chemistry ; Adenosine Triphosphatases/genetics ; Adenosine Triphosphatases/metabolism ; Alleles ; Amino Acid Sequence ; Cell Cycle ; Centromere ; Conserved Sequence ; Genome, Fungal ; Mutation ; RNA Helicases/chemistry ; RNA Helicases/genetics ; RNA Helicases/metabolism ; RNA Splicing Factors/chemistry ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; RNA, Small Nuclear/metabolism ; Schizosaccharomyces pombe Proteins/chemistry ; Schizosaccharomyces pombe Proteins/genetics ; Schizosaccharomyces pombe Proteins/metabolism
Czasopismo naukowe
Tytuł :
Pol II phosphorylation regulates a switch between transcriptional and splicing condensates.
Autorzy :
Guo YE; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Manteiga JC; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Henninger JE; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Sabari BR; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Dall'Agnese A; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Hannett NM; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Spille JH; Department of Physics, Massachusetts Institute of Technology, Cambridge, MA, USA.; Department of Physics, University of Illinois at Chicago, Chicago, IL, USA.
Afeyan LK; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Zamudio AV; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.
Shrinivas K; Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, MA, USA.; Institute of Medical Engineering and Science, Massachusetts Institute of Technology, Cambridge, MA, USA.
Abraham BJ; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; Computational Biology, St Jude Children's Research Hospital, Memphis, TN, USA.
Boija A; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Decker TM; Department of Biochemistry, University of Colorado, Boulder, CO, USA.
Rimel JK; Department of Biochemistry, University of Colorado, Boulder, CO, USA.
Fant CB; Department of Biochemistry, University of Colorado, Boulder, CO, USA.
Lee TI; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.
Cisse II; Department of Physics, Massachusetts Institute of Technology, Cambridge, MA, USA.
Sharp PA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA.; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA, USA.
Taatjes DJ; Department of Biochemistry, University of Colorado, Boulder, CO, USA.
Young RA; Whitehead Institute for Biomedical Research, Cambridge, MA, USA. .; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA. .
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Źródło :
Nature [Nature] 2019 Aug; Vol. 572 (7770), pp. 543-548. Date of Electronic Publication: 2019 Aug 07.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
RNA Splicing*
Transcription, Genetic*
Mediator Complex/*chemistry
Mediator Complex/*metabolism
RNA Polymerase II/*chemistry
RNA Polymerase II/*metabolism
Animals ; Cell Line ; Enhancer Elements, Genetic/genetics ; Gene Expression Regulation/genetics ; Humans ; Mediator Complex/genetics ; Mice ; Phosphorylation ; Protein Domains ; RNA Polymerase II/genetics ; RNA Splicing Factors/chemistry ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism
Czasopismo naukowe
Tytuł :
Sex-Dimorphic Behavioral Alterations and Altered Neurogenesis in U12 Intron Splicing-Defective Zrsr1 Mutant Mice.
Autorzy :
Alén F; Departamento de Psicobiología, Facultad de Psicología, Universidad Complutense de Madrid, Campus de Somosaguas, 28224 Madrid, Spain.
Gómez-Redondo I; Departamento de Reproducción Animal, INIA, Avda Puerta de Hierro n° 12, Local 10, 28040 Madrid, Spain.
Rivera P; UGC Salud Mental, Instituto de Investigación Biomédica de Málaga (IBIMA), Universidad de Málaga-Hospital Universitario Regional de Málaga, Avda, Carlos Haya 82, Pabellón de Gobierno, 29010 Málaga, Spain.
Suárez J; UGC Salud Mental, Instituto de Investigación Biomédica de Málaga (IBIMA), Universidad de Málaga-Hospital Universitario Regional de Málaga, Avda, Carlos Haya 82, Pabellón de Gobierno, 29010 Málaga, Spain.
Ramos-Ibeas P; Departamento de Reproducción Animal, INIA, Avda Puerta de Hierro n° 12, Local 10, 28040 Madrid, Spain.
Pericuesta E; Departamento de Reproducción Animal, INIA, Avda Puerta de Hierro n° 12, Local 10, 28040 Madrid, Spain.
Fernández-González R; Departamento de Reproducción Animal, INIA, Avda Puerta de Hierro n° 12, Local 10, 28040 Madrid, Spain.
Perez-Cerezales S; Departamento de Reproducción Animal, INIA, Avda Puerta de Hierro n° 12, Local 10, 28040 Madrid, Spain.
Horiuchi K; Department of Protein-Protein Interaction Research, Institute for Advanced Medical Sciences, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki, Kanagawa 211-8533, Japan.
Orio L; Departamento de Psicobiología, Facultad de Psicología, Universidad Complutense de Madrid, Campus de Somosaguas, 28224 Madrid, Spain.
Rodriguez de Fonseca F; Departamento de Psicobiología, Facultad de Psicología, Universidad Complutense de Madrid, Campus de Somosaguas, 28224 Madrid, Spain.; UGC Salud Mental, Instituto de Investigación Biomédica de Málaga (IBIMA), Universidad de Málaga-Hospital Universitario Regional de Málaga, Avda, Carlos Haya 82, Pabellón de Gobierno, 29010 Málaga, Spain.
Gutiérrez-Adán A; Departamento de Reproducción Animal, INIA, Avda Puerta de Hierro n° 12, Local 10, 28040 Madrid, Spain. .
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2019 Jul 19; Vol. 20 (14). Date of Electronic Publication: 2019 Jul 19.
Typ publikacji :
Journal Article
MeSH Terms :
Introns*
Mutation*
Neurogenesis*
RNA Splicing*
RNA Splicing Factors/*genetics
Alternative Splicing ; Animals ; Behavior, Animal ; Cell Line, Tumor ; Cell Proliferation ; Cell Survival/genetics ; Gene Expression Regulation ; Humans ; Hypothalamus/metabolism ; Mice ; Mice, Knockout ; Phenotype ; RNA Splicing Factors/metabolism ; Social Behavior
Czasopismo naukowe
Tytuł :
Biochemical and structural basis for YTH domain of human YTHDC1 binding to methylated adenine in DNA.
Autorzy :
Woodcock CB; Department of Epigenetics and Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Horton JR; Department of Epigenetics and Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Zhou J; Department of Epigenetics and Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Bedford MT; Department of Epigenetics and Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Blumenthal RM; Department of Medical Microbiology and Immunology, and Program in Bioinformatics, The University of Toledo College of Medicine and Life Sciences, Toledo, OH 43614, USA.
Zhang X; Department of Epigenetics and Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Cheng X; Department of Epigenetics and Molecular Carcinogenesis, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2020 Oct 09; Vol. 48 (18), pp. 10329-10341.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Protein Conformation*
Adenine/*chemistry
Multiprotein Complexes/*chemistry
Nerve Tissue Proteins/*chemistry
RNA Splicing Factors/*chemistry
DNA/chemistry ; DNA/genetics ; DNA/ultrastructure ; DNA, Single-Stranded/chemistry ; DNA, Single-Stranded/genetics ; Histone Demethylases/genetics ; Humans ; Methylation ; Methyltransferases/genetics ; Multiprotein Complexes/genetics ; Multiprotein Complexes/ultrastructure ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/ultrastructure ; Protein Domains/genetics ; RNA Splicing Factors/genetics ; RNA Splicing Factors/ultrastructure ; RNA-Binding Proteins/genetics
Czasopismo naukowe
Tytuł :
From Rare Copy Number Variants to Biological Processes in ADHD.
Autorzy :
Harich B; Department of Human Genetics (Harich, van der Voet, Klein, Fenckova, Schenck, Franke) and Department of Psychiatry (Franke), Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; and Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (Čížek).
van der Voet M; Department of Human Genetics (Harich, van der Voet, Klein, Fenckova, Schenck, Franke) and Department of Psychiatry (Franke), Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; and Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (Čížek).
Klein M; Department of Human Genetics (Harich, van der Voet, Klein, Fenckova, Schenck, Franke) and Department of Psychiatry (Franke), Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; and Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (Čížek).
Čížek P; Department of Human Genetics (Harich, van der Voet, Klein, Fenckova, Schenck, Franke) and Department of Psychiatry (Franke), Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; and Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (Čížek).
Fenckova M; Department of Human Genetics (Harich, van der Voet, Klein, Fenckova, Schenck, Franke) and Department of Psychiatry (Franke), Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; and Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (Čížek).
Schenck A; Department of Human Genetics (Harich, van der Voet, Klein, Fenckova, Schenck, Franke) and Department of Psychiatry (Franke), Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; and Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (Čížek).
Franke B; Department of Human Genetics (Harich, van der Voet, Klein, Fenckova, Schenck, Franke) and Department of Psychiatry (Franke), Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; and Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (Čížek).
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Źródło :
The American journal of psychiatry [Am J Psychiatry] 2020 Sep 01; Vol. 177 (9), pp. 855-866. Date of Electronic Publication: 2020 Jun 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Attention Deficit Disorder with Hyperactivity*/genetics
Attention Deficit Disorder with Hyperactivity*/metabolism
RNA Polymerase III*/genetics
RNA Polymerase III*/metabolism
RNA Splicing Factors*/genetics
RNA Splicing Factors*/metabolism
Brain/*metabolism
Gene Expression Profiling/*methods
DNA Copy Number Variations/physiology ; Databases, Genetic ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Humans ; Protein Interaction Mapping/methods
Czasopismo naukowe
Tytuł :
Exon and protein positioning in a pre-catalytic group II intron RNP primed for splicing.
Autorzy :
Liu N; Ministry of Education Key Laboratory of Protein Sciences, Tsinghua-Peking Joint Center for Life Sciences, Beijing Advanced Innovation Center for Structural Biology, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Dong X; Department of Biological Sciences and RNA Institute, University at Albany, Albany, NY 12222, USA.
Hu C; Ministry of Education Key Laboratory of Protein Sciences, Tsinghua-Peking Joint Center for Life Sciences, Beijing Advanced Innovation Center for Structural Biology, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Zeng J; Ministry of Education Key Laboratory of Protein Sciences, Tsinghua-Peking Joint Center for Life Sciences, Beijing Advanced Innovation Center for Structural Biology, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Wang J; Ministry of Education Key Laboratory of Protein Sciences, Tsinghua-Peking Joint Center for Life Sciences, Beijing Advanced Innovation Center for Structural Biology, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Wang J; Ministry of Education Key Laboratory of Protein Sciences, Tsinghua-Peking Joint Center for Life Sciences, Beijing Advanced Innovation Center for Structural Biology, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Wang HW; Ministry of Education Key Laboratory of Protein Sciences, Tsinghua-Peking Joint Center for Life Sciences, Beijing Advanced Innovation Center for Structural Biology, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Belfort M; Department of Biological Sciences and RNA Institute, University at Albany, Albany, NY 12222, USA.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2020 Nov 04; Vol. 48 (19), pp. 11185-11198.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Introns*
RNA Splicing*
RNA/*metabolism
Ribonucleoproteins/*chemistry
Exons ; Lactococcus lactis/metabolism ; Nucleic Acid Conformation ; Protein Binding ; Protein Conformation ; Spliceosomes/metabolism
Czasopismo naukowe
Tytuł :
Developmental Attenuation of Neuronal Apoptosis by Neural-Specific Splicing of Bak1 Microexon.
Autorzy :
Lin L; Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, CA 92521, USA.
Zhang M; Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, CA 92521, USA.
Stoilov P; Department of Biochemistry and Cancer Institute, Robert C. Byrd Health Sciences Center, West Virginia University, Morgantown, WV 26506, USA.
Chen L; Department of Biological Sciences, Quantitative and Computational Biology, University of Southern California, Los Angeles, CA 90089, USA.
Zheng S; Division of Biomedical Sciences, School of Medicine, University of California, Riverside, Riverside, CA 92521, USA. Electronic address: .
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Źródło :
Neuron [Neuron] 2020 Sep 23; Vol. 107 (6), pp. 1180-1196.e8. Date of Electronic Publication: 2020 Jul 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Apoptosis*
Neurogenesis*
RNA Splicing*
bcl-2 Homologous Antagonist-Killer Protein/*genetics
Animals ; Brain/growth & development ; Brain/metabolism ; Cell Line, Tumor ; Cells, Cultured ; Female ; Heterogeneous-Nuclear Ribonucleoproteins/genetics ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mutation ; Neural Stem Cells/cytology ; Neural Stem Cells/metabolism ; Nonsense Mediated mRNA Decay ; Polypyrimidine Tract-Binding Protein/genetics ; Polypyrimidine Tract-Binding Protein/metabolism ; bcl-2 Homologous Antagonist-Killer Protein/metabolism
Czasopismo naukowe
Tytuł :
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.
Autorzy :
Jacob A; Univ. Lille, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 8199 - EGID, F-59000, Lille, France.
Pasquier J; Stem Cell and Microenvironment Laboratory, Weill Cornell Medicine-Qatar, Education City, Qatar Foundation, Doha, Qatar.; Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS), UMR_S 938, Centre de Recherche Saint-Antoine, Team Cancer Biology and Therapeutics, Institut Universitaire de Cancérologie, Sorbonne Université, F-75012, Paris, France.; Nice Breast institute, 57 bld de la Californie, 06000, Nice, France.
Carapito R; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085, Strasbourg, France.
Auradé F; INSERM IMRB U955-E10, UPEC - Université Paris Est, Faculté de Médicine, 94000, Créteil, France.
Molitor A; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085, Strasbourg, France.
Froguel P; Univ. Lille, CNRS, CHU Lille, Institut Pasteur de Lille, UMR 8199 - EGID, F-59000, Lille, France.; Department of Genomics of Common Disease, School of Public Health, Imperial College, South Kensington Campus, London, SW7 2AZ, UK.
Fakhro K; Epigenetics Cardiovascular Laboratory, Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar.; Department of Human Genetics, Sidra Medical and Research Center, Doha, Qatar.
Halabi N; Stem cell and microenvironment laboratory, Weill Cornell Medical College in Qatar, Education City, Qatar Foundation, Doha, Qatar.
Viot G; Gynécologie Obstétrique, HUPC, Hôpital Cochin, HUPC, Assistance Publique - Hôpitaux de Paris, Paris, France.
Bahram S; Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085, Strasbourg, France.
Rafii A; Stem cell and microenvironment laboratory, Weill Cornell Medical College in Qatar, Education City, Qatar Foundation, Doha, Qatar. .; Department Genetic Medicine, Weill Cornell Medical College, New York, NY, USA. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Sep 17; Vol. 21 (1), pp. 182. Date of Electronic Publication: 2020 Sep 17.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
RNA Splicing*
Mandibulofacial Dysostosis/*genetics
Microcephaly/*genetics
Peptide Elongation Factors/*genetics
Ribonucleoprotein, U5 Small Nuclear/*genetics
Base Sequence ; Child ; Female ; Humans ; Karyotype ; Phenotype
Czasopismo naukowe

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