المؤلفون: Springstein BL; Department of Microbiology, Harvard Medical School, Boston MA 02115., Paulo JA; Department of Cell Biology, Harvard Medical School, Boston MA 02115., Park H; Department of Cell Biology, Harvard Medical School, Boston MA 02115., Henry K; Department of Microbiology, Harvard Medical School, Boston MA 02115., Fleming E; Department of Microbiology, Harvard Medical School, Boston MA 02115., Feder Z; Department of Microbiology, Harvard Medical School, Boston MA 02115., Harper JW; Department of Cell Biology, Harvard Medical School, Boston MA 02115., Hochschild A; Department of Microbiology, Harvard Medical School, Boston MA 02115.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Feb 06; Vol. 121 (6), pp. e2317453121. Date of Electronic Publication: 2024 Jan 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Escherichia coli*/genetics , Escherichia coli*/metabolism , Proteomics*, Frameshift Mutation/genetics ; Frameshifting, Ribosomal/genetics ; Codon/metabolism

المؤلفون: Spangle JM; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115; jennifer.spangle@emory.edu thomas_roberts@dfci.harvard.edu., Von T; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA 02115., Pavlick DC; Foundation Medicine, Cambridge, MA 02141., Khotimsky A; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA 02115., Zhao JJ; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA 02115., Roberts TM; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115; jennifer.spangle@emory.edu thomas_roberts@dfci.harvard.edu.; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA 02115.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Sep 29; Vol. 117 (39), pp. 24427-24433. Date of Electronic Publication: 2020 Sep 14.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation*, Breast Neoplasms/*enzymology , Class I Phosphatidylinositol 3-Kinases/*chemistry , Class I Phosphatidylinositol 3-Kinases/*genetics, Breast Neoplasms/genetics ; Breast Neoplasms/metabolism ; Cell Line, Tumor ; Class I Phosphatidylinositol 3-Kinases/metabolism ; Class Ia Phosphatidylinositol 3-Kinase/genetics ; Class Ia Phosphatidylinositol 3-Kinase/metabolism ; Female ; Humans ; Phosphatidylinositol 3-Kinases/genetics ; Phosphatidylinositol 3-Kinases/metabolism ; Protein Domains

المؤلفون: Bartonek L; Department of Structural and Computational Biology, Max Perutz Labs, University of Vienna, Vienna A-1030, Austria., Braun D; Department of Structural and Computational Biology, Max Perutz Labs, University of Vienna, Vienna A-1030, Austria., Zagrovic B; Department of Structural and Computational Biology, Max Perutz Labs, University of Vienna, Vienna A-1030, Austria bojan.zagrovic@univie.ac.at.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Mar 17; Vol. 117 (11), pp. 5907-5912. Date of Electronic Publication: 2020 Mar 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Chemical Phenomena* , Frameshift Mutation*, Proteins/*chemistry, Amino Acid Sequence ; Evolution, Molecular ; Genetic Code ; Humans ; Hydrophobic and Hydrophilic Interactions ; Open Reading Frames ; Proteins/genetics

المؤلفون: Hernandez-Miranda LR; Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany., Ibrahim DM; Development and Disease Group, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Ruffault PL; Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany.; Hindbrain Integrative Neurobiology Group, Paris-Saclay Institute for Neuroscience, UMR9197/CNRS, 91190 Gif sur Yvette, France., Larrosa M; Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany., Balueva K; Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany., Müller T; Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany., Weerd W; Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands., Stolte-Dijkstra I; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Hostra RMW; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Brunet JF; Institut de Biologie, École Normale Supérieure, 75005 Paris, France., Fortin G; Hindbrain Integrative Neurobiology Group, Paris-Saclay Institute for Neuroscience, UMR9197/CNRS, 91190 Gif sur Yvette, France., Mundlos S; Development and Disease Group, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Birchmeier C; Developmental Biology and Signal Transduction Group, Max-Delbrueck-Centrum in the Helmholtz Association, 13125 Berlin, Germany; cbirch@mdc-berlin.de.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2018 Dec 18; Vol. 115 (51), pp. 13021-13026. Date of Electronic Publication: 2018 Nov 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation*, Homeodomain Proteins/*genetics , Hypoventilation/*congenital , Muscle Proteins/*physiology , Neurons/*pathology , Sleep Apnea, Central/*etiology , Transcription Factors/*genetics, Animals ; Animals, Newborn ; Cells, Cultured ; Female ; Genome-Wide Association Study ; Homeodomain Proteins/metabolism ; Humans ; Hypoventilation/etiology ; Hypoventilation/metabolism ; Hypoventilation/pathology ; Male ; Mice ; Mice, Knockout ; Neurons/metabolism ; Pedigree ; Respiration ; Sleep Apnea, Central/metabolism ; Sleep Apnea, Central/pathology ; Transcription Factors/metabolism ; Whole Genome Sequencing

SCR Disease Name: Congenital central hypoventilation syndrome

المؤلفون: Rak R; Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel.; Institute of Animal Science, Agricultural Research Organization, The Volcani Center, 7505101 Bet Dagan, Israel., Polonsky M; Department of Immunology, Weizmann Institute of Science, 76100 Rehovot, Israel.; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125., Eizenberg-Magar I; Department of Immunology, Weizmann Institute of Science, 76100 Rehovot, Israel., Mo Y; Department of Chemistry and Biotechnology, University of Tokyo, 113-8654 Tokyo, Japan., Sakaguchi Y; Department of Chemistry and Biotechnology, University of Tokyo, 113-8654 Tokyo, Japan., Mizrahi O; Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel., Nachshon A; Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel., Reich-Zeliger S; Department of Immunology, Weizmann Institute of Science, 76100 Rehovot, Israel., Stern-Ginossar N; Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel., Dahan O; Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel., Suzuki T; Department of Chemistry and Biotechnology, University of Tokyo, 113-8654 Tokyo, Japan., Friedman N; Department of Immunology, Weizmann Institute of Science, 76100 Rehovot, Israel., Pilpel Y; Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel; pilpel@weizmann.ac.il.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Oct 19; Vol. 118 (42).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Lymphocyte Activation*, RNA, Transfer/*metabolism , T-Lymphocytes/*immunology, Cell Proliferation/genetics ; Codon ; Frameshift Mutation ; Humans ; RNA Processing, Post-Transcriptional ; T-Lymphocytes/cytology

المؤلفون: Kurtz S; Institute of Farm Animal Genetics, Friedrich-Loeffler-Institut, Mariensee, 31535 Neustadt am Rübenberge, Germany., Lucas-Hahn A; Institute of Farm Animal Genetics, Friedrich-Loeffler-Institut, Mariensee, 31535 Neustadt am Rübenberge, Germany., Schlegelberger B; Institute of Human Genetics, Hannover Medical School, 30625 Hannover, Germany., Göhring G; Institute of Human Genetics, Hannover Medical School, 30625 Hannover, Germany., Niemann H; Clinic for Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, 30625 Hannover, Germany., Mettenleiter TC; Friedrich-Loeffler-Institut, 17493 Greifswald, Insel Riems, Germany., Petersen B; Institute of Farm Animal Genetics, Friedrich-Loeffler-Institut, Mariensee, 31535 Neustadt am Rübenberge, Germany; bjoern.petersen@fli.de.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Jan 12; Vol. 118 (2).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Sex Determination Processes/*genetics , Sex-Determining Region Y Protein/*genetics , Sex-Determining Region Y Protein/*metabolism, Amino Acid Sequence/genetics ; Animals ; DNA-Binding Proteins/genetics ; Disorders of Sex Development/genetics ; Frameshift Mutation/genetics ; Genes, sry/genetics ; HMG-Box Domains/genetics ; Male ; Mutation/genetics ; Nuclear Proteins/genetics ; Proof of Concept Study ; Protein Domains/genetics ; Swine/genetics ; Transcription Factors/genetics ; Y Chromosome/genetics

المؤلفون: Halma MTJ; Department of Physics, University of Alberta, Edmonton, AB, Canada T6G2E1., Ritchie DB; Department of Physics, University of Alberta, Edmonton, AB, Canada T6G2E1., Cappellano TR; Department of Physics, University of Alberta, Edmonton, AB, Canada T6G2E1., Neupane K; Department of Physics, University of Alberta, Edmonton, AB, Canada T6G2E1., Woodside MT; Department of Physics, University of Alberta, Edmonton, AB, Canada T6G2E1 michael.woodside@ualberta.ca.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2019 Sep 24; Vol. 116 (39), pp. 19500-19505. Date of Electronic Publication: 2019 Aug 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Frameshifting, Ribosomal/*physiology , RNA Folding/*physiology , RNA, Messenger/*metabolism, Frameshift Mutation/genetics ; Frameshift Mutation/physiology ; Frameshifting, Ribosomal/genetics ; Microscopy, Atomic Force/methods ; Nucleic Acid Conformation ; RNA, Messenger/genetics ; RNA, Viral/genetics ; Ribosomes/metabolism ; Structure-Activity Relationship ; West Nile virus/genetics ; West Nile virus/metabolism

المؤلفون: Tummala H; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom; h.tummala@qmul.ac.uk., Walne AJ; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom., Bewicke-Copley F; Centre for Cancer Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom.; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom., Ellison A; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom., Pontikos N; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom., Bridger MG; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom., Rio-Machin A; Centre for Cancer Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom., Sidhu JK; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom., Wang J; Centre for Molecular Oncology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom., Hasle H; Department of Pediatrics, Aarhus University Hospital, 8200 Aarhus, Denmark., Fitzgibbon J; Centre for Cancer Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, EC1M 6BQ London, United Kingdom., Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom., Dokal I; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Jul 21; Vol. 117 (29), pp. 17151-17155. Date of Electronic Publication: 2020 Jul 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Bone Marrow Failure Disorders/*genetics , Frameshift Mutation/*genetics , Sp1 Transcription Factor/*genetics , Transcription, Genetic/*genetics, Female ; Humans ; Male ; Pedigree ; Transcriptome/genetics ; Up-Regulation/genetics ; Zinc Fingers/genetics

المؤلفون: Phillips JW; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095., Pan Y; Bioinformatics Interdepartmental Graduate Program, University of California, Los Angeles, CA 90095., Tsai BL; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095., Xie Z; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095., Demirdjian L; Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104., Xiao W; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095., Yang HT; Bioinformatics Interdepartmental Graduate Program, University of California, Los Angeles, CA 90095., Zhang Y; Bioinformatics Interdepartmental Graduate Program, University of California, Los Angeles, CA 90095., Lin CH; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095., Cheng D; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095., Hu Q; Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263., Liu S; Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14263., Black DL; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095., Witte ON; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095; owenwitte@mednet.ucla.edu xingyi@email.chop.edu.; Department of Molecular and Medical Pharmacology, University of California, Los Angeles, CA 90095.; Molecular Biology Institute, University of California, Los Angeles, CA 90095.; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA 90095.; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095., Xing Y; Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, CA 90095; owenwitte@mednet.ucla.edu xingyi@email.chop.edu.; Bioinformatics Interdepartmental Graduate Program, University of California, Los Angeles, CA 90095.; Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Mar 10; Vol. 117 (10), pp. 5269-5279. Date of Electronic Publication: 2020 Feb 21.

نوع المنشور: 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.

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Prostatic Neoplasms/*metabolism , Proto-Oncogene Proteins c-myc/*metabolism , RNA Precursors/*metabolism , RNA Splicing/*genetics, Adenocarcinoma/genetics ; Adenocarcinoma/metabolism ; Breast Neoplasms/genetics ; Breast Neoplasms/metabolism ; Cell Line, Tumor ; Codon, Terminator/genetics ; Computer Simulation ; Datasets as Topic ; Drug Resistance, Neoplasm/genetics ; Exons ; Female ; Frameshift Mutation ; Humans ; Lung Neoplasms/genetics ; Lung Neoplasms/metabolism ; Male ; Prostatic Neoplasms/genetics ; Proto-Oncogene Proteins c-myc/genetics ; RNA-Seq ; Signal Transduction ; Software

المؤلفون: Huseby DL; Department of Medical Biochemistry and Microbiology, Biomedical Center, Uppsala University, Uppsala SE-751 23, Sweden., Brandis G; Department of Medical Biochemistry and Microbiology, Biomedical Center, Uppsala University, Uppsala SE-751 23, Sweden., Praski Alzrigat L; Department of Medical Biochemistry and Microbiology, Biomedical Center, Uppsala University, Uppsala SE-751 23, Sweden., Hughes D; Department of Medical Biochemistry and Microbiology, Biomedical Center, Uppsala University, Uppsala SE-751 23, Sweden diarmaid.hughes@imbim.uu.se.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Feb 11; Vol. 117 (6), pp. 3185-3191. Date of Electronic Publication: 2020 Jan 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: DNA-Directed RNA Polymerases/*genetics , Drug Resistance, Bacterial/*genetics , Escherichia coli Proteins/*genetics , Frameshift Mutation/*genetics , Genes, Essential/*genetics, Escherichia coli/drug effects ; Evolution, Molecular ; Rifampin/pharmacology