المؤلفون: Marom, R, Burrage, LC, Venditti, R, Clement, A, Blanco-Sanchez, B, Jain, M, Scott, DA, Rosenfeld, JA, Sutton, VR, Shinawi, M, Mirzaa, G, DeVile, C, Roberts, R, Calder, AD, Allgrove, J, Grafe, I, Lanza, DG, Li, XH, Joeng, KS, Lee, YC, Song, IW, Sliepka, JM, Batkovskyte, D, Washington, M, Dawson, BC, Jin, ZX, Jiang, MM, Chen, S, Chen, YQ, Tran, AA, Emrick, LT, Murdock, DR, Hanchard, NA, Zapata, GE, Mehta, NR, Weis, MA, Scott, AA, Tremp, BA, Phillips, JB, Wegner, J, Taylor-Miller, T, Gibbs, RA, Muzny, DM, Jhangiani, SN, Hicks, J, Stottmann, RW, Dickinson, ME, Seavitt, JR, Heaney, JD, Eyre, DR, Westerfield, M, De Matteis, MA, Lee, B

المصدر: American journal of human genetics. 108(9):1710-1724

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147566499

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المؤلفون: Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Busse EC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA., Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Ortinau L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jeong Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Dawson BC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Adeyeye M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, UT Health Houston MD Anderson Cancer Center, Houston, Texas, USA., Leynes C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lietman CD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Stroup BM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Batkovskyte D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Cela R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Castellon A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lorenzo I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Meyers DN; Department of Orthopaedic Surgery, McGovern Medical School at UT Health, Houston, Texas, USA., Huang S; Department of Molecular and Cellular Biology, and Huffington Department of Education, Innovation, and Technology, Advanced Technology Cores, and., Turner A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Shenava V; Department of Orthopedic Surgery, Baylor College of Medicine, Houston, Texas, USA., Wallace M; Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska, USA., Orwoll E; Department of Medicine, Bone and Mineral Unit, Oregon Health and Science University, Portland, Oregon, USA., Park D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Ambrose CG; Department of Orthopaedic Surgery, McGovern Medical School at UT Health, Houston, Texas, USA., Nagamani SC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Jun 17; Vol. 134 (15). Date of Electronic Publication: 2024 Jun 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Cell Differentiation* , MAP Kinase Signaling System* , Osteoblasts*/metabolism , Osteoblasts*/pathology , Osteogenesis Imperfecta*/genetics , Osteogenesis Imperfecta*/pathology , Osteogenesis Imperfecta*/metabolism , SOX9 Transcription Factor*/genetics , SOX9 Transcription Factor*/metabolism, Animals ; Female ; Male ; Mice ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice, Transgenic ; Mutation ; Osteogenesis/genetics ; Stem Cells/metabolism ; Stem Cells/pathology ; Extracellular Signal-Regulated MAP Kinases

SCR Disease Name: Osteogenesis Imperfecta, Type V

المؤلفون: Majd NK; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States., Vo HH; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, United States., Moran CA; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, United States., Weathers SP; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States., Song IW; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, United States., Williford GL; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States., Rodon J; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, United States., Fu S; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, United States., Tsimberidou AM; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.

المصدر: The oncologist [Oncologist] 2024 Jun 05. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9607837 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-490X (Electronic) Linking ISSN: 10837159 NLM ISO Abbreviation: Oncologist Subsets: MEDLINE

المؤلفون: Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Washington M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Leynes C; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Hsu J; Department of Biochemistry, Cell and Molecular Biology, University of Texas Medical Branch, Galveston, TX, 77555, USA., Rayavara K; Department of Microbiology and Immunology, University of Texas Medical Branch, Galveston, TX, 77555, USA., Bae Y; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Haelterman N; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Drelich A; Department of Microbiology and Immunology, University of Texas Medical Branch, Galveston, TX, 77555, USA., Tat V; Department of Pathology, University of Texas Medical Branch, Galveston, TX, 77555, USA., Lanza DG; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Lorenzo I; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Tseng CK; Department of Microbiology and Immunology, University of Texas Medical Branch, Galveston, TX, 77555, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA., Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. ronit.marom@bcm.edu.

المصدر: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2024 Jun; Vol. 35 (2), pp. 113-121. Date of Electronic Publication: 2024 Mar 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9100916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1777 (Electronic) Linking ISSN: 09388990 NLM ISO Abbreviation: Mamm Genome Subsets: MEDLINE

مواضيع طبية MeSH: Angiotensin-Converting Enzyme 2*/genetics , Angiotensin-Converting Enzyme 2*/metabolism , COVID-19*/genetics , COVID-19*/pathology , COVID-19*/virology , Disease Models, Animal* , SARS-CoV-2*/genetics, Animals ; Mice ; Humans ; Mice, Transgenic ; Lung/virology ; Lung/pathology ; Lung/metabolism ; Gene Knock-In Techniques

المؤلفون: Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Zhang B; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Lindsey A; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lesinski J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Nonet ML; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America., Chen J; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Baldridge D; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Silverman GA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Hicks MJ; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Pottinger C; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Krakow D; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America., Schedl T; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Pak SC; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011005. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).

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: Kinesins*/genetics , Kinesins*/metabolism , Osteogenesis Imperfecta*, Animals ; Humans ; Mice ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism ; Carrier Proteins/genetics ; Down-Regulation ; NIH 3T3 Cells ; Proteomics ; Signal Transduction/genetics ; TOR Serine-Threonine Kinases/genetics ; TOR Serine-Threonine Kinases/metabolism

المؤلفون: Song IW; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA., Vo HH; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA., Chen YS; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA., Baysal MA; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA., Kahle M; Khalifa Institute for Personalized Cancer Therapy, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA., Johnson A; Khalifa Institute for Personalized Cancer Therapy, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA., Tsimberidou AM; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.

المصدر: Cancers [Cancers (Basel)] 2023 Mar 25; Vol. 15 (7). Date of Electronic Publication: 2023 Mar 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE

المؤلفون: Vo HH; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Fu S; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Hong DS; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Karp DD; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Piha-Paul S; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Subbiah V; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Janku F; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Naing A; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Yap TA; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Rodon J; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Ajani JA; Department of Gastrointestinal Medical Oncology, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Cartwright C; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Johnson A; Khalifa Institute for Personalized Cancer Therapy, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Song IW; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Beck J; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Kahle M; Khalifa Institute for Personalized Cancer Therapy, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Nogueras-Gonzalez GM; Department of Biostatistics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Miller V; Foundation Medicine, Inc., Cambridge, MA, USA., Chao C; Tempus, Chicago, IL, USA., Vining DJ; Department of Abdominal Imaging, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Berry DA; Department of Biostatistics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Meric-Bernstam F; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA., Tsimberidou AM; Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030, USA. atsimber@mdanderson.org.

المصدر: NPJ precision oncology [NPJ Precis Oncol] 2022 Oct 27; Vol. 6 (1), pp. 78. Date of Electronic Publication: 2022 Oct 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature Country of Publication: England NLM ID: 101708166 Publication Model: Electronic Cited Medium: Print ISSN: 2397-768X (Print) Linking ISSN: 2397768X NLM ISO Abbreviation: NPJ Precis Oncol Subsets: PubMed not MEDLINE

المؤلفون: Machol K; Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA., Polak U; Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA., Song IW; Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA., Chen S; Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA., Jiang MM; Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA., Chen-Evenson Y; Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA., Weis MAE; Department of Orthopedics and Sports Medicine, University of Washington Seattle, WA 98195, USA., Keene DR; Micro-Imaging Center, Shriners Hospital for Children, Portland, OR 97239, USA., Eyre DR; Department of Orthopedics and Sports Medicine, University of Washington Seattle, WA 98195, USA., Lee BH; Department of Molecular and Human Genetics, Baylor college of Medicine, Houston, TX 77030, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2022 Apr 22; Vol. 31 (8), pp. 1325-1335.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Ehlers-Danlos Syndrome*/genetics , Ehlers-Danlos Syndrome*/pathology, Animals ; Collagen/genetics ; Collagen Type V/genetics ; Disease Models, Animal ; Haploinsufficiency ; Mice ; Transforming Growth Factor beta/genetics

المؤلفون: Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Nagamani SC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Nguyen D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Grafe I; Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine and Center for Healthy Aging, University Hospital Carl Gustav Carus Dresden, Dresden, Germany, and Center for Regenerative Therapies Dresden, Technische Universität Dresden, Dresden, Germany., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Gannon FH; Pathology and Immunology and Orthopedic Surgery, Baylor College of Medicine, Houston, Texas, USA., Munivez E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Wallace M; Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska, USA., Esposito P; Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska, USA., Musaad S; Department of Pediatrics-Nutrition, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture/Agricultural Research Service (USDA/ARS) Children's Nutrition Research Center, Houston, Texas, USA., Strudthoff E; Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska, USA., McGuire S; Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska, USA., Thornton M; Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska, USA., Shenava V; Texas Children's Hospital, Houston, Texas, USA.; Department of Orthopedic Surgery., Rosenfeld S; Texas Children's Hospital, Houston, Texas, USA.; Department of Orthopedic Surgery., Huang S; Departments of Molecular and Cellular Biology, Education, Innovation, and Technology, Dan L. Duncan Comprehensive Cancer Center, and Advanced Technology Cores/Office of Research, and., Shypailo R; USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Orwoll E; Department of Medicine, Bone and Mineral Unit, Oregon Health & Science University, Portland, Oregon, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.

المصدر: The Journal of clinical investigation [J Clin Invest] 2022 Apr 01; Vol. 132 (7).

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Osteogenesis Imperfecta*/drug therapy , Osteogenesis Imperfecta*/genetics, Adult ; Bone Density ; Bone and Bones/metabolism ; Child ; Humans ; Lumbar Vertebrae/metabolism ; Transforming Growth Factor beta/genetics ; Transforming Growth Factor beta/metabolism