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المؤلفون: Gao CW; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Lin W; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Riddle RC; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, Maryland, United States of America.; Research and Development Service, Baltimore Veterans Administration Medical Center, Baltimore, Maryland, United States of America., Chopra S; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Kim J; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Boukas L; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, Maryland, United States of America., Hansen KD; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, Maryland, United States of America.; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America., Björnsson HT; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Faculty of Medicine, University of Iceland, Reykjavík, Iceland.; Landspítali University Hospital, Reykjavík, Iceland., Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.

المصدر: PLoS genetics [PLoS Genet] 2024 Jun 10; Vol. 20 (6), pp. e1011310. Date of Electronic Publication: 2024 Jun 10 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Vestibular Diseases*/genetics , Vestibular Diseases*/pathology , Face*/abnormalities , Histone Demethylases*/genetics , Histone Demethylases*/metabolism , Hematologic Diseases*/genetics , Hematologic Diseases*/pathology , Disease Models, Animal* , Chondrocytes*/metabolism , Abnormalities, Multiple*/genetics , Abnormalities, Multiple*/pathology, Animals ; Mice ; Cell Differentiation/genetics ; Chondrogenesis/genetics ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/deficiency ; Humans ; Mice, Knockout ; Phenotype ; Histone-Lysine N-Methyltransferase ; Myeloid-Lymphoid Leukemia Protein

SCR Disease Name: Kabuki syndrome

المؤلفون: Sarver DC; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States., Garcia-Diaz J; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, United States.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, United States.; Cell and Molecular Medicine graduate program, Johns Hopkins University School of Medicine, Baltimore, United States., Saqib M; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States., Riddle RC; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, United States.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, United States.; Research and Development Service, Baltimore Veterans Administration Medical Center, Baltimore, United States., Wong GW; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States.

المصدر: ELife [Elife] 2024 Jan 19; Vol. 12. Date of Electronic Publication: 2024 Jan 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Dwarfism*/genetics , Growth Hormone*/genetics , Growth Hormone*/metabolism, Animals ; Female ; Humans ; Male ; Mice ; Genome-Wide Association Study ; Insulin-Like Growth Factor I/genetics ; Insulin-Like Growth Factor I/metabolism ; Mice, Knockout ; Receptors, Somatotropin/genetics ; Receptors, Somatotropin/metabolism ; Membrane Proteins/genetics

المؤلفون: Gao CW; Department of Genetic Medicine.; Department of Molecular Biology and Genetics, and., Lin W; Department of Genetic Medicine., Riddle RC; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, Maryland, USA.; Research and Development Service, Baltimore Veterans Administration Medical Center, Baltimore, Maryland, USA., Kushwaha P; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Boukas L; Department of Genetic Medicine.; Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, Maryland, USA., Björnsson HT; Department of Genetic Medicine.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavík, Iceland.; Landspítali University Hospital, Reykjavík, Iceland., Hansen KD; Department of Genetic Medicine.; Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, Maryland, USA.; Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Fahrner JA; Department of Genetic Medicine.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

المصدر: JCI insight [JCI Insight] 2024 Jan 09; Vol. 9 (1). Date of Electronic Publication: 2024 Jan 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

مواضيع طبية MeSH: Osteogenesis*/physiology , Fibroblasts*/metabolism, Animals ; Mice ; Polycomb Repressive Complex 2 ; Disease Models, Animal ; Histone Demethylases

SCR Disease Name: Weaver syndrome

المؤلفون: Riddle RC; Division of Musculoskeletal Science, Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, MD, USA. rriddle@som.umaryland.edu.; Research and Development Service, Baltimore VA Medical Center, Baltimore, MD, USA. rriddle@som.umaryland.edu., Choquette GM; Division of Musculoskeletal Science, Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, MD, USA.

المصدر: Nature metabolism [Nat Metab] 2024 Jan; Vol. 6 (1), pp. 8-9.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature Country of Publication: Germany NLM ID: 101736592 Publication Model: Print Cited Medium: Internet ISSN: 2522-5812 (Electronic) Linking ISSN: 25225812 NLM ISO Abbreviation: Nat Metab Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Sarver DC; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Garcia-Diaz J; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, Maryland, USA.; Cell and Molecular Medicine graduate program, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Saqib M; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Riddle RC; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, Maryland, USA.; Research and Development Service, Baltimore Veterans Administration Medical Center, Baltimore, Maryland, USA., Wong GW; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 08. Date of Electronic Publication: 2023 Nov 08.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Gao CW; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD., Lin W; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD., Riddle RC; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, MD.; Research and Development Service, Baltimore Veterans Administration Medical Center, Baltimore, MD., Kushwaha P; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD., Boukas L; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, MD., Björnsson HT; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.; Faculty of Medicine, University of Iceland, Reykjavík, Iceland.; Landspítali University Hospital, Reykjavík, Iceland., Hansen KD; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Biostatistics, Johns Hopkins University School of Public Health, Baltimore, MD., Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Jun 30. Date of Electronic Publication: 2023 Jun 30.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Kim SP; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Seward AH; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Garcia-Diaz J; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Alekos N; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Gould NR; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Aja S; Center for Metabolism and Obesity Research, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Stains JP; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Wolfgang MJ; Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Riddle RC; Department of Orthopaedic Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, MD 21201, USA.; Research and Development Service, Baltimore Veterans Administration Medical Center, Baltimore, MD 21201, USA.

المصدر: IScience [iScience] 2023 May 29; Vol. 26 (7), pp. 106999. Date of Electronic Publication: 2023 May 29 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

المؤلفون: van der Eerden BCJ; Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, Netherlands., Riddle RC; Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, MD, United States.; Research and Development Service, Baltimore VA Medical Center, Baltimore, MD, United States., Stegen S; Department of Chronic Diseases and Metabolism, Clinical and Experimental Endocrinology, KU Leuven, Leuven, Belgium., Tencerova M; Molecular Physiology of Bone, Institute of Physiology of the Czech Academy of Sciences, Prague, Czechia.

المصدر: Frontiers in physiology [Front Physiol] 2023 May 22; Vol. 14, pp. 1205435. Date of Electronic Publication: 2023 May 22 (Print Publication: 2023).

نوع المنشور: Editorial

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101549006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-042X (Print) Linking ISSN: 1664042X NLM ISO Abbreviation: Front Physiol Subsets: PubMed not MEDLINE