-
1
المؤلفون: Henrik Molina, Vivien Béziat, Alain Lefevre-Utile, Marie-Olivia Chandesris, Danielle T. Avery, Maya Chrabieh, Stéphanie Boisson-Dupuis, Anne Puel, Tanwir Habib, Françoise Sarrot-Reynauld, Aziz Belkadi, Hanan Alwaseem, Geetha Rao, Agathe Senechal, Stuart G. Tangye, Qian Zhang, Olivier Lortholary, Bertrand Boisson, Joëlle Khourieh, Xiao-Fei Kong, Capucine Picard, Virginie Grandin, Nico Marr, Jean-Laurent Casanova, Laurent Abel
المصدر: Proceedings of the National Academy of Sciences. 116:16463-16472
مصطلحات موضوعية: Adult, Male, STAT3 Transcription Factor, Heterozygote, T-Lymphocytes, Mutant, Biology, Exon, Loss of Function Mutation, Complementary DNA, Humans, Coding region, splice, Allele, Alleles, Dominance (genetics), Genetics, B-Lymphocytes, Multidisciplinary, Intron, Exons, Middle Aged, DNA-Binding Proteins, PNAS Plus, Gene Expression Regulation, Child, Preschool, Female, RNA Splice Sites, Job Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6fd149df639c39ad42fc571356b2deeTest
https://doi.org/10.1073/pnas.1901409116Test -
2
المؤلفون: Omar Akil, Saaid Safieddine, Jacques Boutet de Monvel, Charlotte Calvet, Frank M. Dyka, Ghizlene Lahlou, Sylvie Nouaille, Jean-Pierre Hardelin, Paul Avan, Alice Emptoz, Christine Petit, William W. Hauswirth, Lawrence R. Lustig
المساهمون: University of California [San Francisco] (UC San Francisco), University of California (UC), University of Florida [Gainesville] (UF), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Equipe Biophysique Neurosensorielle [Neuro-Dol], Neuro-Dol (Neuro-Dol), Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Neuro-Dol (Neuro-Dol), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Columbia University Medical Center (CUMC), Columbia University [New York], This work was supported by the Hearing Research Incorporation (O.A.), Fondation pour la Recherche Médicale (A.E.), Région Ile de France (DIM Thérapie génique), the European Union Seventh Framework Programme under the Grant Agreement HEALTH-F2-2010-242013 (TREAT RUSH), the French government funds managed by Agence Nationale de la Recherche (EargenCure), and LabEx Lifesenses (ANR-10-BNP Paribas Foundation, FAUN Stiftung, LHW Stiftung, and Mrs. Errera Hoechstetter)., ANR-17-CE18-0027,EARGENCURE,Restauration, par thérapie génique, de l'audition et de l'équilibre chez des souris modèles de surdités et troubles vestibulaires humains(2017), ANR-11-IDEX-0004,SUPER,Sorbonne Universités à Paris pour l'Enseignement et la Recherche(2011), European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), University of California [San Francisco] (UCSF), University of California, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire
المصدر: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (10), pp.4496-4501. ⟨10.1073/pnas.1817537116⟩مصطلحات موضوعية: Medical Sciences, [SDV]Life Sciences [q-bio], Genetic enhancement, Genetic Vectors, Mutant, Mice, Transgenic, Biology, law.invention, Mice, otoferlin, 03 medical and health sciences, 0302 clinical medicine, law, deafness, Complementary DNA, otorhinolaryngologic diseases, DFNB9, Animals, Humans, Coding region, Vector (molecular biology), Gene, 030304 developmental biology, 0303 health sciences, Multidisciplinary, Membrane Proteins, Genetic Therapy, Biological Sciences, Dependovirus, gene therapy, Phenotype, Cell biology, Mice, Inbred C57BL, Disease Models, Animal, Recombinant DNA, dual AAV, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a59eb91d9ac9543df3524f03209acd9Test
https://doi.org/10.1073/pnas.1817537116Test -
3
المؤلفون: Robert Haselkorn, Ian King, Bikram S. Gill, Piotr Gornicki, Jan Podkowiński, Justin D. Faris
المصدر: Proceedings of the National Academy of Sciences. 94:14179-14184
مصطلحات موضوعية: Biotin carboxylase, DNA, Complementary, DNA, Plant, Molecular Sequence Data, Biology, Genes, Plant, Polymerase Chain Reaction, Evolution, Molecular, Open Reading Frames, Exon, Rapid amplification of cDNA ends, Complementary DNA, Coding region, Amino Acid Sequence, Plastids, RNA, Messenger, Cloning, Molecular, Gene, Triticum, DNA Primers, Genetics, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, Gene map, Intron, food and beverages, Chromosome Mapping, Biological Sciences, Molecular biology, Introns, RNA, Plant, Acetyl-CoA Carboxylase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f4136d9643ed2819a5dd48d0c6a64a9Test
https://doi.org/10.1073/pnas.94.25.14179Test -
4
المؤلفون: Gordon G. Carmichael, Yingqun Huang
المصدر: Proceedings of the National Academy of Sciences. 94:10104-10109
مصطلحات موضوعية: Cytoplasm, DNA, Complementary, Multidisciplinary, biology, RNA Splicing, Intron, Biological Sciences, Molecular biology, Introns, Histones, Mice, Histone, Complementary DNA, Histone H2A, RNA splicing, HIV-1, biology.protein, Animals, Humans, RNA, Viral, Coding region, RNA, Messenger, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa7a6fd0d98202e3cc3fa20a5a5bcbc9Test
https://doi.org/10.1073/pnas.94.19.10104Test -
5
المؤلفون: Theodore J. Yun, Roger W. Melvold, Larry R. Pease
المصدر: Proceedings of the National Academy of Sciences. 94:1384-1389
مصطلحات موضوعية: DNA, Complementary, DNA Repair, Molecular Sequence Data, Locus (genetics), Biology, Major histocompatibility complex, Mice, Complementary DNA, Animals, Coding region, Cloning, Molecular, Histocompatibility Antigen H-2D, Gene, Recombination, Genetic, Genetics, chemistry.chemical_classification, Genomic Library, Multidisciplinary, Histocompatibility Antigens Class I, H-2 Antigens, Nucleic acid sequence, Genetic Variation, Sequence Analysis, DNA, Biological Sciences, Molecular biology, Amino acid, Mice, Inbred C57BL, ComputingMethodologies_PATTERNRECOGNITION, chemistry, Mutation, biology.protein, Recombination
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6133fab5ab1bc4fcc93a47bfad0da507Test
https://doi.org/10.1073/pnas.94.4.1384Test -
6
المؤلفون: Piotr Gornicki, Jan Podkowiński, G E Sroga, Robert Haselkorn
المصدر: Proceedings of the National Academy of Sciences. 93:1870-1874
مصطلحات موضوعية: Molecular Sequence Data, Restriction Mapping, Biotin, Sequence alignment, Biology, DNA sequencing, Polyploidy, Exon, Cytosol, Rapid amplification of cDNA ends, Sequence Homology, Nucleic Acid, Complementary DNA, Coding region, RNA, Messenger, Gene, Triticum, DNA Primers, Plant Proteins, Genetics, Multidisciplinary, Base Sequence, Intron, Molecular biology, Genes, Sequence Alignment, Acetyl-CoA Carboxylase, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb90aea47be06eb15d27a16c1b420f7eTest
https://doi.org/10.1073/pnas.93.5.1870Test -
7
المؤلفون: Douglas N. Roberts, Mary Ellen Digan, Frances E. Enderlin, Steven J. Kramer, Alison Woodworth
المصدر: Proceedings of the National Academy of Sciences. 89:11074-11078
مصطلحات موضوعية: Signal peptide, Molecular Sequence Data, Moths, Biology, Polymerase Chain Reaction, Complementary DNA, Animals, Coding region, Nervous System Physiological Phenomena, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Protein Precursors, Gene, Peptide sequence, chemistry.chemical_classification, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, fungi, Protein primary structure, DNA, biology.organism_classification, Rats, Amino acid, Oligodeoxyribonucleotides, Biochemistry, chemistry, Manduca sexta, Insect Hormones, RNA, Poly A, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2727a070232094a5156850a6f6392f3bTest
https://doi.org/10.1073/pnas.89.22.11074Test -
8
المؤلفون: Ralf Lutticke, Detlef Becker, Peter Starlinger, Min-Gang Li
المصدر: Proceedings of the National Academy of Sciences. 89:5552-5556
مصطلحات موضوعية: Transposable element, Genetics, Reporter gene, Multidisciplinary, Promoter, Biology, biology.organism_classification, Molecular biology, Petunia, Complementary DNA, Coding region, Gene, Transposase, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3548d5c6b7b2115de215126401aa4e42Test
https://doi.org/10.1073/pnas.89.12.5552Test -
9
المؤلفون: Irving Kirsch, Nicholas M. Gough, V Göbel, V L Bertness, Anthony R. Green, Stanley Lipkowitz, K A Mahon, C G Begley
المصدر: Proceedings of the National Academy of Sciences. 89:38-42
مصطلحات موضوعية: Molecular Sequence Data, Gene Expression, Nerve Tissue Proteins, Molecular cloning, Biology, Nervous System, Mice, Complementary DNA, Gene expression, Basic Helix-Loop-Helix Transcription Factors, Animals, Coding region, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Gene, Peptide sequence, Multidisciplinary, Base Sequence, cDNA library, Nucleic acid sequence, Blotting, Northern, Molecular biology, DNA-Binding Proteins, Genes, Sequence Alignment, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce0dcee96e2ac1c3eb26a2294a961215Test
https://doi.org/10.1073/pnas.89.1.38Test -
10
المؤلفون: Y Lipidot-Lifson, Shlomo Seidman, Judy Lieman-Hurwitz, Dalia Ginzberg, Catherine A. Prody, Hermona Soreq, Efrat Lev-Lehman, Lewis F. Neville, Averell Gnatt, Revital Ben-Aziz
المصدر: Proceedings of the National Academy of Sciences. 87:9688-9692
مصطلحات موضوعية: Models, Molecular, Guanine, Molecular Sequence Data, Restriction Mapping, Biology, Molecular cloning, Torpedo, Cytosine, Restriction map, Sequence Homology, Nucleic Acid, Complementary DNA, Animals, Humans, Coding region, Genomic library, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Gene Library, Multidisciplinary, Base Sequence, cDNA library, Gene Amplification, Nucleic acid sequence, Protein primary structure, Molecular biology, Biochemistry, Protein Biosynthesis, Acetylcholinesterase, Oocytes, Nucleic Acid Conformation, Female, Oligonucleotide Probes, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff33f29a05a752a1a9838f608e380ed5Test
https://doi.org/10.1073/pnas.87.24.9688Test