Zobrazeno 1 - 10
of 7 336
pro vyhledávání: '"RNA Splice Sites"'
Autor:
Fauqueux J; Univ. Lille, ULR7364 RADEME, Lille, France., Boussion S; Univ. Lille, ULR7364 RADEME, Lille, France.; CHU Lille, Clinique de Génétique, Lille, France., Thuillier C; CHU Lille, Institut de Génétique Médicale, Lille, France., Meurisse E; Univ. Lille, ULR7364 RADEME, Lille, France., Lacombe D; Univ. Bordeaux, UMR1211 - MRGM - Maladies Rares Génétique et Métabolisme, Bordeaux, France.; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France., Willems M; CHU Montpellier, Département de Génétique Médicale, Centre de Référence Anomalies du Développement, Montpellier, France.; Univ. Montpellier, Inserm, Institute for Neurosciences of Montpellier, Montpellier, France., Piton A; IGBMC, Neurogenetics and Translational Medicine, Illkirch-Graffenstaden, France.; CHU Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg, France., Ait-Yahya E; CHU Lille, Unité de Bio-informatique, Plateau de Biologie-Moléculaire, Lille, France., Ghoumid J; Univ. Lille, ULR7364 RADEME, Lille, France.; CHU Lille, Clinique de Génétique, Lille, France., Smol T; Univ. Lille, ULR7364 RADEME, Lille, France thomas.smol@chu-lille.fr.; CHU Lille, Institut de Génétique Médicale, Lille, France.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Oct 23; Vol. 61 (11), pp. 1040-1044. Date of Electronic Publication: 2024 Oct 23.
Autor:
Teryutin FM; Laboratory of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Yakutsk, Russia., Pshennikova VG; Laboratory of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Yakutsk, Russia., Solovyev AV; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russia., Romanov GP; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russia., Fedorova SA; Laboratory of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Yakutsk, Russia.; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russia., Barashkov NA; Laboratory of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Yakutsk, Russia.
Publikováno v:
PloS one [PLoS One] 2024 Oct 22; Vol. 19 (10), pp. e0309439. Date of Electronic Publication: 2024 Oct 22 (Print Publication: 2024).
Autor:
Tholen J; Department of Structural Biology, Genentech Inc., South San Francisco, California 94080, USA tholenj@gene.com.
Publikováno v:
RNA (New York, N.Y.) [RNA] 2024 Oct 16; Vol. 30 (11), pp. 1397-1407. Date of Electronic Publication: 2024 Oct 16.
A sequential binding mechanism for 5' splice site recognition and modulation for the human U1 snRNP.
Autor:
White DS; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.; Element Biosciences, San Diego, CA, USA., Dunyak BM; Remix Therapeutics, Watertown, MA, USA., Vaillancourt FH; Remix Therapeutics, Watertown, MA, USA., Hoskins AA; Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA. ahoskins@wisc.edu.; Department of Chemistry, University of Wisconsin-Madison, Madison, WI, USA. ahoskins@wisc.edu.
Publikováno v:
Nature communications [Nat Commun] 2024 Oct 10; Vol. 15 (1), pp. 8776. Date of Electronic Publication: 2024 Oct 10.
Autor:
Siachisumo C; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Luzzi S; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Aldalaqan S; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Hysenaj G; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Dalgliesh C; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Cheung K; Bioinformatics Support Unit, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Gazzara MR; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Phildelphia, United States., Yonchev ID; School of Biosciences, University of Sheffield, Sheffield, United Kingdom., James K; School of Computing, Newcastle University, Newcastle, United Kingdom., Kheirollahi Chadegani M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Ehrmann IE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Smith GR; Bioinformatics Support Unit, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Cockell SJ; Bioinformatics Support Unit, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Munkley J; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom., Wilson SA; School of Biosciences, University of Sheffield, Sheffield, United Kingdom., Barash Y; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Phildelphia, United States., Elliott DJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, United Kingdom.
Publikováno v:
ELife [Elife] 2024 Oct 02; Vol. 12. Date of Electronic Publication: 2024 Oct 02.
Autor:
Lu D; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Gong X; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Guo X; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Cai Q; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Chen Y; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Zhu Y; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Sang X; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Yang H; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Xu M; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Zeng Y; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China., Li D; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Frontiers Science Center of Genome Editing and Cell Therapy, Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China., Zeng F; Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, China.; School of Pharmacy, Macau University of Science and Technology, Macau, China.
Publikováno v:
Human gene therapy [Hum Gene Ther] 2024 Oct; Vol. 35 (19-20), pp. 825-837. Date of Electronic Publication: 2024 Aug 13.
Autor:
Ospina Cardona D; Center for Human Genetics and Genomics, New York University School of Medicine, New York, NY, USA., Rodriguez-Pinto I; Department of Internal Medicine, Hospital Mútua de Terrassa, Terrassa, Spain., Iosim S; Department of Pediatrics, New York University School of Medicine, New York, NY, USA., Bonet N; Genomics Core Facility, Departament de Medicina i Ciències de la Vida (MELIS), Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain., Mensa-Vilaro A; Department of Immunology, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain., Wong MK; Center for Human Genetics and Genomics, New York University School of Medicine, New York, NY, USA.; Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY, USA., Ho G; Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY, USA., Tormo M; Genomics Core Facility, Departament de Medicina i Ciències de la Vida (MELIS), Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.; Scientific Computing Core Facility, Departament de Medicina i Ciències de la Vida (MELIS), Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain., Yagüe J; Department of Immunology, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.; School of Medicine, Universitat de Barcelona, Barcelona, Spain., Shon W; Department Pathology & Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Wallace DJ; Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Casals F; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Universitat de Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Beck DB; Center for Human Genetics and Genomics, New York University School of Medicine, New York, NY, USA.; Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, NY, USA.; Department of Biochemistry and Molecular Pharmacology, New York University School of Medicine, New York, NY, USA., Abuav R; Department Pathology & Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Arostegui JI; Department of Immunology, Hospital Clínic, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.; School of Medicine, Universitat de Barcelona, Barcelona, Spain.
Publikováno v:
Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2024 Oct 01; Vol. 63 (10), pp. 2897-2902.
Autor:
Luo M; Department of Neurology, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100730, China., Wang Y; Department of Neurology, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100730, China., Liang J; Center for Genetic Medicine, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310000, Zhejiang, China., Wan X; Department of Neurology, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing, 100730, China. wanxh@pumch.cn.
Publikováno v:
Journal of translational medicine [J Transl Med] 2024 Sep 27; Vol. 22 (1), pp. 872. Date of Electronic Publication: 2024 Sep 27.
Autor:
Chao KH; Department of Computer Science, Johns Hopkins University, Baltimore, MD, 21218, USA. kh.chao@cs.jhu.edu.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, 21211, USA. kh.chao@cs.jhu.edu., Mao A; Department of Computer Science, Johns Hopkins University, Baltimore, MD, 21218, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, 21211, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, 21218, USA., Salzberg SL; Department of Computer Science, Johns Hopkins University, Baltimore, MD, 21218, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, 21211, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, 21218, USA.; Department of Biostatistics, Johns Hopkins University, Baltimore, MD, 21205, USA., Pertea M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, 21218, USA. mpertea@jhu.edu.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, 21211, USA. mpertea@jhu.edu.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, 21218, USA. mpertea@jhu.edu.
Publikováno v:
Genome biology [Genome Biol] 2024 Sep 16; Vol. 25 (1), pp. 243. Date of Electronic Publication: 2024 Sep 16.
Autor:
Bolikhova AK; Center of Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo 121205, Russia.; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia., Buyan AI; Institute of Protein Research, Russian Academy of Sciences, Pushchino 142290, Russia.; Department of Chemistry, Lomonosov Moscow State University, Moscow 119991, Russia., Mariasina SS; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia.; Department of Chemistry, Lomonosov Moscow State University, Moscow 119991, Russia.; Faculty of Fundamental Medicine, Lomonosov Moscow State University, Moscow 119991, Russia., Rudenko AY; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia., Chekh DS; Faculty of Biology, Lomonosov Moscow State University, Moscow 119991, Russia., Mazur AM; Institute of Bioengineering, Research Center of Biotechnology of the Russian Academy of Sciences, Moscow 119071, Russia., Prokhortchouk EB; Institute of Bioengineering, Research Center of Biotechnology of the Russian Academy of Sciences, Moscow 119071, Russia., Dontsova OA; Center of Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo 121205, Russia.; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia.; Department of Chemistry, Lomonosov Moscow State University, Moscow 119991, Russia.; Department of Functioning of Living Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow 117997, Russia., Sergiev PV; Center of Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo 121205, Russia petya@genebee.msu.ru.; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia.; Department of Chemistry, Lomonosov Moscow State University, Moscow 119991, Russia.; Institute of Functional Genomics, Lomonosov Moscow State University, Moscow 119991, Russia.
Publikováno v:
RNA (New York, N.Y.) [RNA] 2024 Sep 16; Vol. 30 (10), pp. 1356-1373. Date of Electronic Publication: 2024 Sep 16.