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Tytuł :
A splice site-sensing conformational switch in U2AF2 is modulated by U2AF1 and its recurrent myelodysplasia-associated mutation.
Autorzy :
Warnasooriya C; Department of Biochemistry and Biophysics and Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Feeney CF; Department of Biochemistry and Biophysics and Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Laird KM; Department of Biochemistry and Biophysics and Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Ermolenko DN; Department of Biochemistry and Biophysics and Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
Kielkopf CL; Department of Biochemistry and Biophysics and Center for RNA Biology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2020 Jun 04; Vol. 48 (10), pp. 5695-5709.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Mutation*
RNA Splice Sites*
RNA Splicing*
Myelodysplastic Syndromes/*genetics
Splicing Factor U2AF/*chemistry
Splicing Factor U2AF/*genetics
Fluorescence Resonance Energy Transfer ; Humans ; Protein Conformation ; Splicing Factor U2AF/metabolism ; Uridine/analysis
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 :
Alternative splicing coupled with transcript degradation modulates OAS1g antiviral activity.
Autorzy :
Frankiw L; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California 91125, USA.
Mann M; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California 91125, USA.
Li G; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California 91125, USA.; Center of Systems Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China.; Suzhou Institute of Systems Medicine, Suzhou 215123, China.
Joglekar A; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California 91125, USA.; Center for Systems Immunology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.; Department of Immunology, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.
Baltimore D; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, California 91125, USA.
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Źródło :
RNA (New York, N.Y.) [RNA] 2020 Feb; Vol. 26 (2), pp. 126-136. Date of Electronic Publication: 2019 Nov 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alternative Splicing*
RNA Splice Sites*
2',5'-Oligoadenylate Synthetase/*metabolism
Antiviral Agents/*metabolism
Gene Expression Regulation/*genetics
Immunity, Innate/*genetics
2',5'-Oligoadenylate Synthetase/genetics ; Animals ; Apoptosis ; HEK293 Cells ; Humans ; Mice ; Nonsense Mediated mRNA Decay ; RAW 264.7 Cells
Czasopismo naukowe
Tytuł :
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
Autorzy :
Leman R; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France. .; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France. .; Université Caen-Normandie, Caen, France. .
Tubeuf H; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.; Interactive Biosoftware, Rouen, France.
Raad S; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Tournier I; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Derambure C; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Lanos R; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Gaildrat P; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Castelain G; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Hauchard J; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Killian A; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Baert-Desurmont S; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Legros A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.
Goardon N; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Quesnelle C; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.
Ricou A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Castera L; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Vaur D; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Le Gac G; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, Brest, France.
Ka C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, Brest, France.
Fichou Y; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, Brest, France.
Bonnet-Dorion F; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, Bordeaux, France.
Sevenet N; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, Bordeaux, France.
Guillaud-Bataille M; Service de Génétique, Institut Gustave Roussy, Villejuif, France.
Boutry-Kryza N; Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, Lyon, France.
Schultz I; Laboratoire d'Oncogénétique, Centre Paul Strauss, Strasbourg, France.
Caux-Moncoutier V; Service de Génétique, Institut Curie, Paris, France.
Rossing M; Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Houdayer C; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Martins A; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France. .; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France. .; Université Caen-Normandie, Caen, France. .; Present address: Laboratoire de biologie et génétique des cancers, Centre François Baclesse, Caen, France. .
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Źródło :
BMC genomics [BMC Genomics] 2020 Jan 28; Vol. 21 (1), pp. 86. Date of Electronic Publication: 2020 Jan 28.
Typ publikacji :
Journal Article
MeSH Terms :
Introns*
RNA Precursors*
RNA Splice Sites*
RNA Splicing*
Alternative Splicing ; Computational Biology/methods ; Humans ; Nucleotide Motifs ; Position-Specific Scoring Matrices ; RNA Processing, Post-Transcriptional ; ROC Curve ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site.
Autorzy :
Riedmayr LM; Center for Integrated Protein Science Munich (CIPSM), 81377 Munich, Germany.; Department of Pharmacy-Center for Drug Research, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
Böhm S; Center for Integrated Protein Science Munich (CIPSM), 81377 Munich, Germany.; Department of Pharmacy-Center for Drug Research, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
Biel M; Center for Integrated Protein Science Munich (CIPSM), 81377 Munich, Germany.; Department of Pharmacy-Center for Drug Research, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
Becirovic E; Center for Integrated Protein Science Munich (CIPSM), 81377 Munich, Germany.; Department of Pharmacy-Center for Drug Research, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Jan 15; Vol. 29 (2), pp. 295-304.
Typ publikacji :
Journal Article
MeSH Terms :
RNA Splice Sites*
RNA Splicing/*genetics
Retina/*metabolism
Retinitis Pigmentosa/*genetics
Rhodopsin/*genetics
Animals ; HEK293 Cells ; Humans ; Mice ; Mutation, Missense ; Photoreceptor Cells/metabolism ; Photoreceptor Cells/pathology ; Retina/pathology ; Retinitis Pigmentosa/metabolism ; Rhodopsin/metabolism
Czasopismo naukowe
Tytuł :
Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.
Autorzy :
Liu X; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China.; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.; Laboratory of Visual Physiology, Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan.; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Gao L; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China.; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
Wang G; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China.; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
Long Y; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China.; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
Ren J; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China.; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
Fujinami K; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.; Department of Genetics, UCL Institute of Ophthalmology, London, UK.; Division of Inherited Eye Diseases, Moorfields Eye Hospital, London, UK.
Meng X; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China. .; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China. .
Li S; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China. .; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China. .
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Źródło :
Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2020 Dec; Vol. 141 (3), pp. 217-226. Date of Electronic Publication: 2020 Apr 24.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Arrestin/*genetics
Eye Diseases, Hereditary/*diagnosis
Eye Diseases, Hereditary/*genetics
Night Blindness/*diagnosis
Night Blindness/*genetics
RNA Splice Sites/*genetics
White Dot Syndromes/*diagnosis
Adult ; Dark Adaptation ; Electroretinography ; Eye Diseases, Hereditary/physiopathology ; Female ; Follow-Up Studies ; Humans ; Night Blindness/physiopathology ; Pedigree ; Polymerase Chain Reaction ; RNA Splicing ; Retina/physiopathology ; Scotoma/diagnosis ; Tomography, Optical Coherence ; Visual Acuity/physiology ; Visual Field Tests ; Visual Fields/physiology ; White Dot Syndromes/physiopathology ; Whole Exome Sequencing
SCR Disease Name :
Oguchi disease
Czasopismo naukowe
Tytuł :
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
Autorzy :
DiBacco ML; From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane.
Pop A; From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane.
Salomons GS; From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane.
Hanson E; From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane.
Roullet JB; From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane.
Gibson KM; From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane.
Pearl PL; From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane. .
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Źródło :
Neurology [Neurology] 2020 Nov 10; Vol. 95 (19), pp. e2675-e2682. Date of Electronic Publication: 2020 Sep 04.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Amino Acid Metabolism, Inborn Errors/*genetics
Developmental Disabilities/*genetics
Succinate-Semialdehyde Dehydrogenase/*deficiency
Adolescent ; Amino Acid Metabolism, Inborn Errors/physiopathology ; Ataxia/genetics ; Ataxia/physiopathology ; Child ; Computer Simulation ; Developmental Disabilities/physiopathology ; Electroencephalography ; Epilepsy/genetics ; Epilepsy/physiopathology ; Female ; Frameshift Mutation ; Genetic Association Studies ; HEK293 Cells ; Heterozygote ; Homozygote ; Humans ; In Vitro Techniques ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Language Development Disorders/genetics ; Language Development Disorders/physiopathology ; Male ; Muscle Hypotonia/genetics ; Muscle Hypotonia/physiopathology ; Mutagenesis, Site-Directed ; Mutation, Missense ; Obsessive-Compulsive Disorder/genetics ; Obsessive-Compulsive Disorder/physiopathology ; RNA Splice Sites ; Severity of Illness Index ; Succinate-Semialdehyde Dehydrogenase/genetics
SCR Disease Name :
succinic semialdehyde dehydrogenase deficiency
Czasopismo naukowe
Tytuł :
Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila.
Autorzy :
Li L; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Plant Science, Chinese Academy of Sciences, Shanghai, 200032, China.; University of Chinese Academy of Sciences, Shanghai, 200032, China.; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China.
Ding Z; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Plant Science, Chinese Academy of Sciences, Shanghai, 200032, China.; University of Chinese Academy of Sciences, Shanghai, 200032, China.; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China.
Pang TL; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Plant Science, Chinese Academy of Sciences, Shanghai, 200032, China.; University of Chinese Academy of Sciences, Shanghai, 200032, China.; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China.
Zhang B; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Plant Science, Chinese Academy of Sciences, Shanghai, 200032, China.; University of Chinese Academy of Sciences, Shanghai, 200032, China.; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China.
Li CH; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China.
Liang AM; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China.
Wang YR; Key Laboratory of Insect Developmental and Evolutionary Biology, CAS Center for Excellence in Molecular Plant Science, Chinese Academy of Sciences, Shanghai, 200032, China.; University of Chinese Academy of Sciences, Shanghai, 200032, China.
Zhou Y; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China.
Fan YJ; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China. .
Xu YZ; State Key Laboratory of Virology, Hubei Key Laboratory of Cell Homeostasis, College of Life Science, Wuhan University, Hubei, 430072, China. .
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Źródło :
Nature communications [Nat Commun] 2020 Nov 05; Vol. 11 (1), pp. 5608. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Introns*
Drosophila Proteins/*genetics
Muscular Atrophy, Spinal/*genetics
Nerve Tissue Proteins/*genetics
Spliceosomes/*pathology
Animals ; Disease Models, Animal ; Drosophila ; Muscular Atrophy, Spinal/pathology ; Mutation ; Phenotype ; RNA Splice Sites ; RNA Splicing/genetics ; RNA, Small Nuclear/genetics ; RNA, Small Nuclear/metabolism ; RNA-Binding Proteins/genetics ; Spliceosomes/genetics
Czasopismo naukowe
Tytuł :
Comprehensive analysis of translation from overexpressed circular RNAs reveals pervasive translation from linear transcripts.
Autorzy :
Ho-Xuan H; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
Glažar P; Laboratory for Systems Biology of Gene Regulatory Elements, Berlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
Latini C; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
Heizler K; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
Haase J; Institute of Molecular Medicine, Section for Molecular Cell Biology, Martin-Luther-University Halle-Wittenberg, Charles Tanford Protein Center, 06120 Halle, Germany.
Hett R; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
Anders M; Department of Surgery, University Hospital Regensburg, Regensburg, Germany.
Weichmann F; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
Bruckmann A; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
Van den Berg D; Department of Cell Biology, Erasmus MC, Wytemaweg 80, 3015 CN, Rotterdam, Netherlands.
Hüttelmaier S; Institute of Molecular Medicine, Section for Molecular Cell Biology, Martin-Luther-University Halle-Wittenberg, Charles Tanford Protein Center, 06120 Halle, Germany.
Rajewsky N; Laboratory for Systems Biology of Gene Regulatory Elements, Berlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
Hackl C; Department of Surgery, University Hospital Regensburg, Regensburg, Germany.
Meister G; Regensburg Center for Biochemistry (RCB), Laboratory for RNA Biology, University of Regensburg, Regensburg, Germany.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2020 Oct 09; Vol. 48 (18), pp. 10368-10382.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Protein Biosynthesis*
Internal Ribosome Entry Sites/*genetics
Methyltransferases/*genetics
RNA, Circular/*genetics
Base Sequence/genetics ; Gene Expression Regulation/genetics ; HEK293 Cells ; Humans ; MicroRNAs/genetics ; RNA Splice Sites/genetics ; RNA, Circular/classification ; RNA-Binding Proteins/genetics
Czasopismo naukowe
Tytuł :
Allosteric regulation of U1 snRNP by splicing regulatory proteins controls spliceosomal assembly.
Autorzy :
Shenasa H; Department of Microbiology and Molecular Genetics, University of California Irvine, Irvine, California 92697, USA.
Movassat M; Department of Microbiology and Molecular Genetics, University of California Irvine, Irvine, California 92697, USA.
Forouzmand E; Department of Microbiology and Molecular Genetics, University of California Irvine, Irvine, California 92697, USA.
Hertel KJ; Department of Microbiology and Molecular Genetics, University of California Irvine, Irvine, California 92697, USA.
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Źródło :
RNA (New York, N.Y.) [RNA] 2020 Oct; Vol. 26 (10), pp. 1389-1399. Date of Electronic Publication: 2020 Jun 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Allosteric Regulation/*genetics
Alternative Splicing/*genetics
RNA, Small Nuclear/*genetics
Ribonucleoprotein, U1 Small Nuclear/*genetics
Spliceosomes/*metabolism
Heterogeneous-Nuclear Ribonucleoproteins/genetics ; Proteomics/methods ; RNA Precursors/genetics ; RNA Splice Sites/genetics ; RNA, Messenger/genetics
Czasopismo naukowe
Tytuł :
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Autorzy :
Fadaie Z; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Khan M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Del Pozo-Valero M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
Cornelis SS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Ayuso C; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.
Cremers FPM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Roosing S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
The Abca Study Group
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Źródło :
Human mutation [Hum Mutat] 2019 Dec; Vol. 40 (12), pp. 2365-2376. Date of Electronic Publication: 2019 Sep 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
RNA Splice Sites*
ATP-Binding Cassette Transporters/*genetics
Retinal Diseases/*genetics
Alternative Splicing ; Gene Expression Regulation ; HEK293 Cells ; Humans ; Introns ; Phenotype ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Ularcirc: visualization and enhanced analysis of circular RNAs via back and canonical forward splicing.
Autorzy :
Humphreys DT; Victor Chang Cardiac Research Institute.; University of New South Wales, Sydney, Australia.
Fossat N; Embryology Unit, Children's Medical Research Institute.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Demuth M; Embryology Unit, Children's Medical Research Institute.
Tam PPL; Embryology Unit, Children's Medical Research Institute.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.
Ho JWK; Victor Chang Cardiac Research Institute.; University of New South Wales, Sydney, Australia.; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2019 Nov 18; Vol. 47 (20), pp. e123.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
RNA Splice Sites*
Software*
RNA, Circular/*genetics
Humans ; RNA Splicing ; RNA, Circular/chemistry ; RNA, Circular/metabolism ; Sequence Analysis, RNA/methods
Czasopismo naukowe
Tytuł :
Context matters: Regulation of splice donor usage.
Autorzy :
Ptok J; Institute of Virology, Medical Faculty, Heinrich Heine University Düsseldorf, D-40225 Düsseldorf, Germany.
Müller L; Institute of Virology, Medical Faculty, Heinrich Heine University Düsseldorf, D-40225 Düsseldorf, Germany.
Theiss S; Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich Heine University Düsseldorf, D-40225 Düsseldorf, Germany.
Schaal H; Institute of Virology, Medical Faculty, Heinrich Heine University Düsseldorf, D-40225 Düsseldorf, Germany. Electronic address: .
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Źródło :
Biochimica et biophysica acta. Gene regulatory mechanisms [Biochim Biophys Acta Gene Regul Mech] 2019 Nov - Dec; Vol. 1862 (11-12), pp. 194391. Date of Electronic Publication: 2019 Jun 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Point Mutation*
RNA Splice Sites*
Computational Biology/*methods
RNA, Small Nuclear/*genetics
Alternative Splicing ; Exons ; Humans ; Regulatory Elements, Transcriptional
Czasopismo naukowe
Tytuł :
Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.
Autorzy :
Lv Y; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Liaoning Centre for Prenatal Diagnosis, Research Center of China Medical University Birth Cohort, Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning, China.
Gu J; Department of Otolaryngology, The First Hospital Affiliated to China Medical University, Shenyang, Liaoning, China.
Qiu H; Basecare Medical Device Co., Ltd., Suzhou, Jiangsu, China.
Li H; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Liaoning Centre for Prenatal Diagnosis, Research Center of China Medical University Birth Cohort, Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning, China.
Zhang Z; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Liaoning Centre for Prenatal Diagnosis, Research Center of China Medical University Birth Cohort, Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning, China.
Yin S; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Liaoning Centre for Prenatal Diagnosis, Research Center of China Medical University Birth Cohort, Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning, China.
Mao Y; Basecare Medical Device Co., Ltd., Suzhou, Jiangsu, China.
Kong L; Basecare Medical Device Co., Ltd., Suzhou, Jiangsu, China.
Liang B; State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.
Jiang H; Department of Pediatrics, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning, China.
Liu C; Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning Province, Liaoning Centre for Prenatal Diagnosis, Research Center of China Medical University Birth Cohort, Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China Medical University, Shenyang, Liaoning, China.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Nov; Vol. 7 (11), pp. e967. Date of Electronic Publication: 2019 Sep 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Polymorphism, Single Nucleotide*
RNA Splice Sites*
Genetic Diseases, X-Linked/*etiology
Hearing Loss, Sensorineural/*congenital
Hearing Loss, Sensorineural/*etiology
Muscle Proteins/*genetics
RNA Splicing/*genetics
Whole Exome Sequencing/*methods
Child ; Child, Preschool ; Female ; Genetic Diseases, X-Linked/pathology ; Hearing Loss, Sensorineural/pathology ; Humans ; Introns ; Male ; Middle Aged ; Prognosis
SCR Disease Name :
Deafness, X-Linked 4
Czasopismo naukowe
Tytuł :
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Autorzy :
Lin JH; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
Tang XY; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
Boulling A; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
Zou WB; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
Masson E; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.; CHU Brest, Service de Génétique, Brest, France.
Fichou Y; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.; Laboratory of Excellence GR-Ex, Paris, France.
Raud L; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
Le Tertre M; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
Deng SJ; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
Berlivet I; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
Ka C; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.; CHU Brest, Service de Génétique, Brest, France.; Laboratory of Excellence GR-Ex, Paris, France.
Mort M; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Hayden M; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Leman R; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France.; Department of Genetics, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France.
Houdayer C; Department of Genetics, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France.
Le Gac G; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.; CHU Brest, Service de Génétique, Brest, France.; Laboratory of Excellence GR-Ex, Paris, France.
Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom.
Li ZS; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
Férec C; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
Liao Z; Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.; Shanghai Institute of Pancreatic Diseases, Shanghai, China.
Chen JM; EFS, Univ Brest, Inserm, UMR 1078, GGB, F-29200, Brest, France.
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Źródło :
Human mutation [Hum Mutat] 2019 Oct; Vol. 40 (10), pp. 1856-1873. Date of Electronic Publication: 2019 Jun 24.
Typ publikacji :
Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't
MeSH Terms :
Alternative Splicing*
Base Sequence*
Gene Expression Regulation*
Genetic Variation*
RNA Splice Sites*
Cells, Cultured ; Computational Biology/methods ; Databases, Nucleic Acid ; Exons ; Gene Expression Profiling ; High-Throughput Nucleotide Sequencing ; Humans ; Introns ; Nucleotide Motifs ; Position-Specific Scoring Matrices ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.
Autorzy :
Afzal R; Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Firasat S; Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Kaul H; Genetics Division, Department of Livestock Production, University of Veterinary and Animal Sciences, Pattoki, Pakistan.
Ahmed B; Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Siddiqui SN; Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
Zafar SN; Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
Shahzadi M; Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Afshan K; Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
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Źródło :
Congenital anomalies [Congenit Anom (Kyoto)] 2019 Sep; Vol. 59 (5), pp. 152-161. Date of Electronic Publication: 2018 Oct 15.
Typ publikacji :
Journal Article
MeSH Terms :
Introns*
Mutation*
RNA Splice Sites*
Cytochrome P-450 CYP1B1/*genetics
Glaucoma/*congenital
Glaucoma/*diagnosis
Alleles ; Amino Acid Substitution ; Consanguinity ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Glaucoma/therapy ; Humans ; Infant ; Male ; Pakistan ; Pedigree ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Activation of cryptic splice sites in three patients with chronic granulomatous disease.
Autorzy :
de Boer M; Sanquin Research and Landsteiner Laboratory, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
van Leeuwen K; Sanquin Research and Landsteiner Laboratory, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Hauri-Hohl M; Department of Stem Cell Transplantation Research, University Children's Hospital Zürich, Zürich, Switzerland.
Roos D; Sanquin Research and Landsteiner Laboratory, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Sep; Vol. 7 (9), pp. e854. Date of Electronic Publication: 2019 Jul 30.
Typ publikacji :
Journal Article
MeSH Terms :
RNA Splice Sites*
RNA Splicing*
Transcriptional Activation*
Granulomatous Disease, Chronic/*genetics
Alleles ; Exons ; Female ; Granulomatous Disease, Chronic/metabolism ; Humans ; Introns ; Male ; Mutation ; NADPH Oxidases/metabolism ; Neutrophils/metabolism ; RNA Stability ; RNA, Messenger/genetics ; Reactive Oxygen Species/metabolism
Czasopismo naukowe
Tytuł :
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.
Autorzy :
Siavrienė E; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania. .
Petraitytė G; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Mikštienė V; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Rančelis T; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Maldžienė Ž; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Morkūnienė A; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Byčkova J; Center of Ear, Nose and Throat Diseases, Vilnius University Hospital Santaros Clinics, Vilnius, Lithuania.
Utkus A; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Kučinskas V; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
Preikšaitienė E; Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.
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Źródło :
BMC medical genetics [BMC Med Genet] 2019 Jul 17; Vol. 20 (1), pp. 127. Date of Electronic Publication: 2019 Jul 17.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
RNA Splice Sites*
CHARGE Syndrome/*genetics
DNA Helicases/*genetics
DNA-Binding Proteins/*genetics
Genetic Predisposition to Disease/*genetics
Adolescent ; Amino Acid Sequence ; Base Sequence ; CHARGE Syndrome/diagnostic imaging ; CHARGE Syndrome/physiopathology ; Female ; Frameshift Mutation ; Genetic Association Studies ; Heterozygote ; Humans ; Introns ; Mutation ; RNA Splicing ; RNA, Messenger ; Sequence Alignment ; Temporal Bone/diagnostic imaging ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Histone H1.5 binds over splice sites in chromatin and regulates alternative splicing.
Autorzy :
Glaich O; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
Leader Y; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
Lev Maor G; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
Ast G; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2019 Jul 09; Vol. 47 (12), pp. 6145-6159.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alternative Splicing*
RNA Splice Sites*
Histones/*metabolism
Cell Line ; Chromatin/metabolism ; DNA/metabolism ; Exons ; Humans ; Introns ; RNA Polymerase II/metabolism
Czasopismo naukowe
Tytuł :
DeepDSSR: Deep Learning Structure for Human Donor Splice Sites Recognition.
Autorzy :
Alam T; Information and Computing Technology Division, College of Science and Engineering, Hamad Bin Khalifa University (HBKU), Doha, Qatar.
Islam MT; Computer Science Department, Southern Connecticut State University, USA.
Househ M; Information and Computing Technology Division, College of Science and Engineering, Hamad Bin Khalifa University (HBKU), Doha, Qatar.
Bouzerdoum A; Information and Computing Technology Division, College of Science and Engineering, Hamad Bin Khalifa University (HBKU), Doha, Qatar.; School of Electrical, Computer and Telecommunications Engineering University of Wollongong, Wollongong, NSW, Australia.
Kawsar FA; Department of Computing, East Tennessee State University, USA.
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Źródło :
Studies in health technology and informatics [Stud Health Technol Inform] 2019 Jul 04; Vol. 262, pp. 236-239.
Typ publikacji :
Journal Article
MeSH Terms :
Deep Learning*
RNA Splice Sites*
Humans ; RNA, Messenger
Czasopismo naukowe

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