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Tytuł:
Conserved and divergent signals in 5' splice site sequences across fungi, metazoa and plants.
Autorzy:
Beckel MS; Fundación Instituto Leloir, Buenos Aires, Argentina.; Instituto de Investigaciones Bioquímicas de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
Kaufman B; Fundación Instituto Leloir, Buenos Aires, Argentina.; Instituto de Investigaciones Bioquímicas de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
Yanovsky M; Fundación Instituto Leloir, Buenos Aires, Argentina.; Instituto de Investigaciones Bioquímicas de Buenos Aires, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
Chernomoretz A; Fundación Instituto Leloir, Buenos Aires, Argentina.; Departamento de Física, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Instituto de Física Interdisciplinaria y Aplicada (INFINA), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
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Źródło:
PLoS computational biology [PLoS Comput Biol] 2023 Oct 13; Vol. 19 (10), pp. e1011540. Date of Electronic Publication: 2023 Oct 13 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splice Sites*/genetics
RNA Splicing*/genetics
Animals ; Base Sequence ; Plants/genetics ; Fungi/genetics ; Eukaryota ; Nucleotides ; Introns
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina.
Autorzy:
Swirski S; Human Genetics, Department of Human Medicine, Faculty of Medicine and Health Sciences, University of Oldenburg, Carl-von-Ossietzky-Straße 9-11, 26129 Oldenburg, Germany.
May O; Human Genetics, Department of Human Medicine, Faculty of Medicine and Health Sciences, University of Oldenburg, Carl-von-Ossietzky-Straße 9-11, 26129 Oldenburg, Germany.
Ahlers M; Visual Neuroscience, Department of Neuroscience, Faculty of Medicine and Health Sciences, University of Oldenburg, Carl-von-Ossietzky-Straße 9-11, 26129 Oldenburg, Germany.
Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Elfriede-Aulhorn-Straße 7, 72076 Tübingen, Germany.
Greschner M; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Elfriede-Aulhorn-Straße 7, 72076 Tübingen, Germany.; Research Center Neurosensory Science, University of Oldenburg, Carl-von-Ossietzky-Straße 9-11, 26129 Oldenburg, Germany.
Jüschke C; Human Genetics, Department of Human Medicine, Faculty of Medicine and Health Sciences, University of Oldenburg, Carl-von-Ossietzky-Straße 9-11, 26129 Oldenburg, Germany.
Neidhardt J; Human Genetics, Department of Human Medicine, Faculty of Medicine and Health Sciences, University of Oldenburg, Carl-von-Ossietzky-Straße 9-11, 26129 Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, Carl-von-Ossietzky-Straße 9-11, 26129 Oldenburg, Germany.
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Źródło:
Cells [Cells] 2023 Mar 21; Vol. 12 (6). Date of Electronic Publication: 2023 Mar 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splice Sites*
RNA Splicing*/genetics
Animals ; Mice ; RNA, Small Nuclear/genetics ; RNA, Small Nuclear/metabolism ; Retina/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Autorzy:
Pravinbabu P; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Holla VV; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
Phulpagar P; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India.
Kamble N; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
Netravathi M; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
Yadav R; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India.
Pal PK; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Hosur Road, Bangalore, 560029, India. .
Muthusamy B; Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India. .; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Jul; Vol. 43 (7), pp. 4463-4472. Date of Electronic Publication: 2022 Feb 11.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Charcot-Marie-Tooth Disease*/genetics
RNA Splice Sites*/genetics
Adolescent ; Humans ; Male ; Mutation/genetics ; Nucleotides ; Refsum Disease
SCR Disease Name:
Neuropathy, hereditary motor and sensory, LOM type
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Reconstruction of Full-Length circRNA Sequences Using Chimeric Alignment Information.
Autorzy:
Hossain MT; Center for High Performance Computing, Joint Engineering Research Center for Health Big Data Intelligent Analysis Technology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China.; School of Computer Science and Technology, University of Chinese Academy of Sciences, Beijing 100049, China.; Department of Statistics, Bangabandhu Sheikh Mujibur Rahaman Science and Technology University, Gopalganj 8100, Bangladesh.
Zhang J; Center for High Performance Computing, Joint Engineering Research Center for Health Big Data Intelligent Analysis Technology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China.; School of Computer Science and Technology, University of Chinese Academy of Sciences, Beijing 100049, China.
Reza MS; Center for High Performance Computing, Joint Engineering Research Center for Health Big Data Intelligent Analysis Technology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China.; School of Computer Science and Technology, University of Chinese Academy of Sciences, Beijing 100049, China.
Peng Y; Department of Pathology, The Shenzhen University School of Medicine, Shenzhen 518060, China.
Feng S; Center for High Performance Computing, Joint Engineering Research Center for Health Big Data Intelligent Analysis Technology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China.
Wei Y; Center for High Performance Computing, Joint Engineering Research Center for Health Big Data Intelligent Analysis Technology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Jun 17; Vol. 23 (12). Date of Electronic Publication: 2022 Jun 17.
Typ publikacji:
Journal Article
MeSH Terms:
RNA Splice Sites*
RNA, Circular*/genetics
Animals ; Mice ; RNA/genetics ; RNA/metabolism ; RNA-Seq
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites.
Autorzy:
Strauch Y; School of Human Development and Health, Faculty of Medicine, University of Southampton, Hampshire, United Kingdom.; Vision, Learning and Control, Department of Electronics and Computer Science, Faculty of Engineering and Physical Sciences, University of Southampton, Hampshire, United Kingdom.
Lord J; School of Human Development and Health, Faculty of Medicine, University of Southampton, Hampshire, United Kingdom.
Niranjan M; Vision, Learning and Control, Department of Electronics and Computer Science, Faculty of Engineering and Physical Sciences, University of Southampton, Hampshire, United Kingdom.
Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Hampshire, United Kingdom.
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Źródło:
PloS one [PLoS One] 2022 Jun 03; Vol. 17 (6), pp. e0269159. Date of Electronic Publication: 2022 Jun 03 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splice Sites*/genetics
RNA Splicing*
Alternative Splicing ; Humans ; Machine Learning ; Mutation ; Neural Networks, Computer
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Use of CRISPR/Cas9 with homology-directed repair to silence the human topoisomerase IIα intron-19 5' splice site: Generation of etoposide resistance in human leukemia K562 cells.
Autorzy:
Hernandez VA; Division of Pharmaceutics and Pharmacology, College of Pharmacy, The Ohio State University, Columbus, Ohio, United States of America.
Carvajal-Moreno J; Division of Pharmaceutics and Pharmacology, College of Pharmacy, The Ohio State University, Columbus, Ohio, United States of America.
Wang X; Division of Pharmaceutics and Pharmacology, College of Pharmacy, The Ohio State University, Columbus, Ohio, United States of America.
Pietrzak M; Department of Biomedical Informatics, College of Medicine, The Ohio State University, Columbus, Ohio, United States of America.
Yalowich JC; Division of Pharmaceutics and Pharmacology, College of Pharmacy, The Ohio State University, Columbus, Ohio, United States of America.
Elton TS; Division of Pharmaceutics and Pharmacology, College of Pharmacy, The Ohio State University, Columbus, Ohio, United States of America.
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Źródło:
PloS one [PLoS One] 2022 May 26; Vol. 17 (5), pp. e0265794. Date of Electronic Publication: 2022 May 26 (Print Publication: 2022).
Typ publikacji:
Journal Article
MeSH Terms:
Leukemia*/genetics
RNA Splice Sites*
Antigens, Neoplasm/genetics ; CRISPR-Cas Systems/genetics ; DNA Topoisomerases, Type II/genetics ; DNA Topoisomerases, Type II/metabolism ; Etoposide/pharmacology ; Humans ; Introns/genetics ; K562 Cells ; RNA, Messenger
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A genetic screen in C. elegans reveals roles for KIN17 and PRCC in maintaining 5' splice site identity.
Autorzy:
Suzuki JMNGL; Center for Molecular Biology of RNA, Department of Molecular Cell Developmental Biology, University of California, Santa Cruz, California, United States of America.
Osterhoudt K; Center for Molecular Biology of RNA, Department of Molecular Cell Developmental Biology, University of California, Santa Cruz, California, United States of America.
Cartwright-Acar CH; Center for Molecular Biology of RNA, Department of Molecular Cell Developmental Biology, University of California, Santa Cruz, California, United States of America.
Gomez DR; Center for Molecular Biology of RNA, Department of Molecular Cell Developmental Biology, University of California, Santa Cruz, California, United States of America.
Katzman S; UCSC Genomics Institute, University of California, Santa Cruz, Santa Cruz, California, United States of America.
Zahler AM; Center for Molecular Biology of RNA, Department of Molecular Cell Developmental Biology, University of California, Santa Cruz, California, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2022 Feb 10; Vol. 18 (2), pp. e1010028. Date of Electronic Publication: 2022 Feb 10 (Print Publication: 2022).
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:
Caenorhabditis elegans*/genetics
Caenorhabditis elegans*/metabolism
RNA Splice Sites*/genetics
Animals ; Introns/genetics ; Mutation ; RNA Precursors/genetics ; RNA Precursors/metabolism ; RNA Splicing/genetics ; Spliceosomes/genetics ; Spliceosomes/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The influence of 4-thiouridine labeling on pre-mRNA splicing outcomes.
Autorzy:
Altieri JAC; Department of Microbiology and Molecular Genetics, University of California Irvine, Irvine, California, United States of America.
Hertel KJ; Department of Microbiology and Molecular Genetics, University of California Irvine, Irvine, California, United States of America.
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Źródło:
PloS one [PLoS One] 2021 Dec 13; Vol. 16 (12), pp. e0257503. Date of Electronic Publication: 2021 Dec 13 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
RNA Splice Sites*
Alternative Splicing/*drug effects
RNA Precursors/*metabolism
Thiouridine/*pharmacology
HEK293 Cells ; Humans ; Nucleic Acid Conformation ; RNA Precursors/genetics ; RNA Stability/drug effects ; Staining and Labeling
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A .
Autorzy:
Mansard L; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Baux D; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
Vaché C; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
Blanchet C; National Reference Centre for Inherited Sensory Diseases, University Montpellier, CHU Montpellier, F-34000 Montpellier, France.; Oto Laryngology Department, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Meunier I; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Willems M; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.; Medical Genetics Department, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Faugère V; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Baudoin C; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Moclyn M; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Bianchi J; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Dollfus H; Reference Center for Rare Affections in Ophthalmology Genetics (CARGO), Institute of Medical Genetics of Alsace, University of Strasbourg, CHU Strasbourg, F-67000 Strasbourg, France.
Gilbert-Dussardier B; Medical Genetics Department, University of Poitiers, CHU Poitiers, F-86000 Poitiers, France.
Dupin-Deguine D; Medical Genetics Department, University of Toulouse, CHU Purpan, F-31000 Toulouse, France.
Bonneau D; Medical Genetics Department, University of Angers, CHU Angers, F-49000 Angers, France.
Drumare I; Vision and Neuro-Ophthalmology Department, University of Lille, CHU Lille, F-59000 Lille, France.
Odent S; Clinical Genetics Service, University Hospital, Genetics and Development Institute of Rennes IDGDR, UMR6290 University of Rennes, F-35000 Rennes, France.
Zanlonghi X; Center of Competence for Rare Diseases, Jules Verne Clinic, F-44000 Nantes, France.
Claustres M; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Koenig M; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Kalatzis V; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
Roux AF; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 10; Vol. 22 (24). Date of Electronic Publication: 2021 Dec 10.
Typ publikacji:
Clinical Trial; Journal Article
MeSH Terms:
Genotype*
Mutation, Missense*
RNA Splice Sites*
Usher Syndromes*/classification
Usher Syndromes*/genetics
Extracellular Matrix Proteins/*genetics
Myosin VIIa/*genetics
Adult ; Female ; France ; Humans ; Male
SCR Disease Name:
Usher syndrome, type 2A
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient.
Autorzy:
Conboy JG; Biological Systems and Engineering Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 09; Vol. 22 (24). Date of Electronic Publication: 2021 Dec 09.
Typ publikacji:
Journal Article
MeSH Terms:
RNA Splice Sites*
Silent Mutation*
von Willebrand Diseases/*genetics
von Willebrand Factor/*genetics
Exons ; Humans ; Introns ; Nucleic Acid Conformation ; Polymorphism, Single Nucleotide ; RNA Splicing ; von Willebrand Factor/chemistry
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation.
Autorzy:
Kankuri-Tammilehto M; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Institute of Biomedicine, University of Turku, Turku, Finland.
Sauna-Aho O; KTO, Support and Expert Center for Persons with Intellectual Disability, Southwest Special Care Municipal Authority, Paimio, Finland.
Arvio M; Neurology, Päijät-Häme Joint Municipal Authority, Lahti, Finland.; PEDEGO, Oulu University Hospital, Oulu, Finland.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1780. Date of Electronic Publication: 2021 Aug 09.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
Phenotype*
RNA Splice Sites*
Siblings*
Chromosome Disorders/*diagnosis
Chromosome Disorders/*genetics
Nerve Tissue Proteins/*genetics
Adult ; Aged ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22/genetics ; Comparative Genomic Hybridization ; Female ; Follow-Up Studies ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Mental Status and Dementia Tests ; Exome Sequencing
SCR Disease Name:
Telomeric 22q13 Monosomy Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
HLA-DQA1*03:03:01:16Q, a novel allele with an acceptor splice site mutation.
Autorzy:
Casey H; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.
Tyler J; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.
Fisher C; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.
Mowery C; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.
Shike H; Department of Pathology, Penn State Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.
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Źródło:
HLA [HLA] 2021 Nov; Vol. 98 (5), pp. 490-492. Date of Electronic Publication: 2021 Aug 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splice Sites*/genetics
Alleles ; HLA-DQ alpha-Chains ; Humans ; Introns/genetics ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Autorzy:
Chesneau B; UF de Génétique Médicale et Cytogénétique, Centre Hospitalier Régional Universitaire de Nîmes, Nîmes, France.; Centre de Référence du syndrome de Marfan et des syndromes apparentés, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.
Plancke A; UF de Génétique Médicale et Cytogénétique, Centre Hospitalier Régional Universitaire de Nîmes, Nîmes, France.
Rolland G; UF de Génétique Médicale et Cytogénétique, Centre Hospitalier Régional Universitaire de Nîmes, Nîmes, France.
Marcheix B; Département de Chirurgie Cardiaque, Hôpital Universitaire de Rangueil, Toulouse, France.
Dulac Y; Centre de Référence du syndrome de Marfan et des syndromes apparentés, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.
Edouard T; Centre de Référence du syndrome de Marfan et des syndromes apparentés, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.
Plaisancié J; Service de Génétique Médicale, Hôpital Universitaire de Purpan, Toulouse, France.
Aubert-Mucca M; Centre de Référence du syndrome de Marfan et des syndromes apparentés, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.; Service de Génétique Médicale, Hôpital Universitaire de Purpan, Toulouse, France.
Julia S; Service de Génétique Médicale, Hôpital Universitaire de Purpan, Toulouse, France.
Langeois M; Centre de Référence du syndrome de Marfan et des syndromes apparentés, Hôpital des Enfants, CHU de Toulouse, Toulouse, France.; Service de Génétique Médicale, Hôpital Universitaire de Purpan, Toulouse, France.
Lavabre-Bertrand T; UF de Génétique Médicale et Cytogénétique, Centre Hospitalier Régional Universitaire de Nîmes, Nîmes, France.; Institut des Biomolécules Max Mousseron (IBMM), CNRS UMR5247, Université de Montpellier, Montpellier, France.; Faculté de Médecine Montpellier-Nîmes, Laboratoire d'Histologie-Embryologie-Cytogénétique, Institut des Biomolécules Max Mousseron (IBMM), CNRS UMR5247, Nîmes, France.
Khau Van Kien P; UF de Génétique Médicale et Cytogénétique, Centre Hospitalier Régional Universitaire de Nîmes, Nîmes, France.; Institut des Biomolécules Max Mousseron (IBMM), CNRS UMR5247, Université de Montpellier, Montpellier, France.; Faculté de Médecine Montpellier-Nîmes, Laboratoire d'Histologie-Embryologie-Cytogénétique, Institut des Biomolécules Max Mousseron (IBMM), CNRS UMR5247, Nîmes, France.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1814. Date of Electronic Publication: 2021 Oct 21.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
RNA Splice Sites*
Aortic Dissection/*genetics
Aortic Aneurysm, Thoracic/*genetics
Ductus Arteriosus, Patent/*genetics
Myosin Heavy Chains/*genetics
Aortic Dissection/pathology ; Aortic Aneurysm, Thoracic/pathology ; Ductus Arteriosus, Patent/pathology ; Exons ; Humans ; Male ; Mutation ; RNA Splicing ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
Autorzy:
Nieminen TT; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
Liyanarachchi S; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
Comiskey DF Jr; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
Wang Y; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
Li W; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
Hendrickson IV; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
Brock P; Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA.
de la Chapelle A; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
He H; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 May; Vol. 9 (5), pp. e1641. Date of Electronic Publication: 2021 May 04.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA Splice Sites*
Spectrin/*genetics
Spherocytosis, Hereditary/*genetics
Adolescent ; Adult ; Child ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Spectrin/metabolism ; Spherocytosis, Hereditary/diagnosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR .
Autorzy:
Kortüm F; Center for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany.
Kieninger S; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany.
Mazzola P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Kohl S; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany.
Wissinger B; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany.
Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Stingl K; Center for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany.
Weisschuh N; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jan 16; Vol. 22 (2). Date of Electronic Publication: 2021 Jan 16.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation*
RNA Splice Sites*
Eye Proteins/*genetics
Retinitis Pigmentosa/*genetics
Adult ; Aged ; Female ; HEK293 Cells ; Humans ; Male ; Middle Aged ; Retinitis Pigmentosa/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel BRCA2 splice variant identified in a young woman.
Autorzy:
Nicolussi A; Department of Experimental Medicine, University of Roma 'La Sapienza', Roma, Italy.
Belardinilli F; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Ottini L; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Petroni M; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Capalbo C; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.
Giannini G; Department of Molecular Medicine, University of Roma 'La Sapienza', Roma, Italy.; Istituto Pasteur-Fondazione Cenci Bolognetti, Roma, Italy.
Coppa A; Department of Experimental Medicine, University of Roma 'La Sapienza', Roma, Italy.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Dec; Vol. 8 (12), pp. e1513. Date of Electronic Publication: 2020 Nov 07.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Deletion*
RNA Splice Sites*
BRCA2 Protein/*genetics
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adult ; Conserved Sequence ; Hereditary Breast and Ovarian Cancer Syndrome/pathology ; Humans ; Loss of Heterozygosity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60.
Autorzy:
Hsiao HT; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, United States of America.; Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, Connecticut, United States of America.
Crichlow GV; Department of Pharmacology, Yale University School of Medicine, New Haven, Connecticut, United States of America.
Murphy JW; Department of Pharmacology, Yale University School of Medicine, New Haven, Connecticut, United States of America.
Folta-Stogniew EJ; W.M. Keck Biotechnology Research Laboratory, Yale University School of Medicine, New Haven, Connecticut, United States of America.
Lolis EJ; Department of Pharmacology, Yale University School of Medicine, New Haven, Connecticut, United States of America.
Braddock DT; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, United States of America.
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Źródło:
PloS one [PLoS One] 2020 Nov 30; Vol. 15 (11), pp. e0242725. Date of Electronic Publication: 2020 Nov 30 (Print Publication: 2020).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Introns*
Promoter Regions, Genetic*
RNA Splice Sites*
Adenoviridae/*chemistry
RNA Splicing Factors/*chemistry
RNA, Viral/*chemistry
Repressor Proteins/*chemistry
Adenoviridae/metabolism ; Crystallography, X-Ray ; Humans ; RNA Splicing Factors/metabolism ; RNA, Viral/metabolism ; Repressor Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel hybrid genes and a splice site mutation encoding the St antigen among Japanese blood donors.
Autorzy:
Watanabe-Okochi N; Kanto-Koshinetsu Block Blood Center, Japanese Red Cross Society, Tokyo, Japan.
Tsuneyama H; Kanto-Koshinetsu Block Blood Center, Japanese Red Cross Society, Tokyo, Japan.; Central blood institute, Japanese Red Cross Society, Tokyo, Japan.
Isa K; Central blood institute, Japanese Red Cross Society, Tokyo, Japan.
Sasaki K; Central blood institute, Japanese Red Cross Society, Tokyo, Japan.
Suzuki Y; Kanto-Koshinetsu Block Blood Center, Japanese Red Cross Society, Tokyo, Japan.
Yabe R; Kanto-Koshinetsu Block Blood Center, Japanese Red Cross Society, Tokyo, Japan.
Tsuno NH; Kanto-Koshinetsu Block Blood Center, Japanese Red Cross Society, Tokyo, Japan.
Nakajima K; Kanto-Koshinetsu Block Blood Center, Japanese Red Cross Society, Tokyo, Japan.
Ogasawara K; Central blood institute, Japanese Red Cross Society, Tokyo, Japan.
Uchikawa M; Kanto-Koshinetsu Block Blood Center, Japanese Red Cross Society, Tokyo, Japan.
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Źródło:
Vox sanguinis [Vox Sang] 2020 Nov; Vol. 115 (8), pp. 756-766. Date of Electronic Publication: 2020 May 11.
Typ publikacji:
Journal Article
MeSH Terms:
Blood Donors*
Mutation*
RNA Splice Sites*
Glycophorins/*genetics
Alleles ; Asian People/genetics ; Exons ; Humans ; Japan ; MNSs Blood-Group System/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Disrupted minor intron splicing is prevalent in Mendelian disorders.
Autorzy:
Olthof AM; Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT, USA.
Rasmussen JS; Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT, USA.
Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
Kanadia RN; Department of Physiology and Neurobiology, University of Connecticut, Storrs, CT, USA.; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1374. Date of Electronic Publication: 2020 Jun 23.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Gene Frequency*
Introns*
RNA Splice Sites*
Genetic Diseases, Inborn/*genetics
Alternative Splicing ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A new HLA-C allele with an alternative splice site in exon 3: HLA-C*03:23N.
Autorzy:
Shimizu M; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
Kuroda Y; Kyushu Block Blood Center, Japanese Red Cross Society, Fukuoka, Japan.
Uchida M; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
Takada S; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
Kamada H; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
Takahashi D; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
Nakajima F; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
Miyata S; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
Igarashi S; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
Satake M; Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
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Źródło:
HLA [HLA] 2020 Jun; Vol. 95 (6), pp. 555-560. Date of Electronic Publication: 2020 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
HLA-C Antigens*/genetics
RNA Splice Sites*/genetics
Alleles ; Base Sequence ; Exons/genetics ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 1098

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