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: Park S; Center for Complex Biological Systems, University of California, Irvine, Irvine, CA 92697, USA. xiaoyu.shi@uci.edu., Wang X; Physiology and Biophysics, University of California, Irvine, Irvine, CA 92697, USA., Mo Y; Center for Complex Biological Systems, University of California, Irvine, Irvine, CA 92697, USA. xiaoyu.shi@uci.edu., Zhang S; Department of Developmental and Cell Biology, University of California, Irvine, Irvine, CA 92697, USA., Li X; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94143, USA., Fong KC; Department of Developmental and Cell Biology, University of California, Irvine, Irvine, CA 92697, USA., Yu C; Physiology and Biophysics, University of California, Irvine, Irvine, CA 92697, USA., Tran AA; Cardiovascular Research Institute, School of Medicine, University of California, San Francisco, San Francisco 94143, USA., Scipioni L; Laboratory for Fluorescence Dynamics, University of California, Irvine, Irvine, CA 92697, USA.; Department of Biomedical Engineering, University of California, Irvine, Irvine, CA 92697, USA., Dai Z; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94143, USA., Huang X; School of Biomedical Engineering, Science and Health Systems, Drexel University, Philadelphia, PA 19104, USA., Huang L; Physiology and Biophysics, University of California, Irvine, Irvine, CA 92697, USA., Shi X; Center for Complex Biological Systems, University of California, Irvine, Irvine, CA 92697, USA. xiaoyu.shi@uci.edu.; Department of Developmental and Cell Biology, University of California, Irvine, Irvine, CA 92697, USA.; Department of Biomedical Engineering, University of California, Irvine, Irvine, CA 92697, USA.; Department of Chemistry, University of California, Irvine, Irvine, CA 92697, USA.

المصدر: Journal of materials chemistry. B [J Mater Chem B] 2024 Aug 06. Date of Electronic Publication: 2024 Aug 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Royal Society of Chemistry Country of Publication: England NLM ID: 101598493 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2050-7518 (Electronic) Linking ISSN: 2050750X NLM ISO Abbreviation: J Mater Chem B Subsets: MEDLINE

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: Park S; Center for Complex Biological Systems, University of California, Irvine; Irvine, 92697, United States., Wang X; Physiology and Biophysics, University of California, Irvine; Irvine, 92697, United States., Li X; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco; San Francisco, 94143, United States., Huang X; School of Biomedical Engineering, Science and Health Systems, Drexel University; Philadelphia, PA19104., Fong KC; Department of Developmental and Cell Biology, University of California, Irvine; Irvine, 92697, United States.; Current Address: School of Criminal Justice and Criminalistics, California State University, Los Angeles; Los Angeles, 90042, United States., Yu C; Physiology and Biophysics, University of California, Irvine; Irvine, 92697, United States., Tran AA; Cardiovascular Research Institute, School of Medicine, University of California, San Francisco; San Francisco, 94143, United States., Scipioni L; Laboratory for Fluorescence Dynamics, University of California, Irvine; Irvine, 92697, United States.; Department of Biomedical Engineering, University of California, Irvine; Irvine, 92697, United States., Dai Z; Department of Developmental and Cell Biology, University of California, Irvine; Irvine, 92697, United States., Huang L; Physiology and Biophysics, University of California, Irvine; Irvine, 92697, United States., Shi X; Center for Complex Biological Systems, University of California, Irvine; Irvine, 92697, United States.; Department of Developmental and Cell Biology, University of California, Irvine; Irvine, 92697, United States.; Department of Biomedical Engineering, University of California, Irvine; Irvine, 92697, United States.; Department of Chemistry, University of California, Irvine; Irvine, 92697, United States.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 13. Date of Electronic Publication: 2023 Nov 13.

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: 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: Kong C; Department of Emergency Medicine, Zucker School of Medicine at Hofstra/Northwell - North Shore University Hospital/Long Island Jewish Medical Center, Long Island, NY 11040, USA., Bubic IJ; Department of Emergency Medicine, UC San Diego Health, San Diego, CA 92037, USA., Tran AA; Oregon Health & Sciences University School of Medicine, Portland, OR 97239, USA., Tan G; Department of Internal Medicine, Zucker School of Medicine at Hofstra/Northwell - North Shore University Hospital/Long Island Jewish Medical Center, Long Island, NY 11040, USA., Medak AJ; Department of Emergency Medicine, UC San Diego Health, San Diego, CA 92037, USA., Oswald J; Department of Emergency Medicine, Department of Anesthesiology, Center for Pain Medicine, UC San Diego Health, La Jolla, CA 92037, USA.

المصدر: Pain management [Pain Manag] 2023 Jul; Vol. 13 (7), pp. 373-378. Date of Electronic Publication: 2023 Jul 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Future Medicine Country of Publication: England NLM ID: 101555934 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1758-1877 (Electronic) Linking ISSN: 17581869 NLM ISO Abbreviation: Pain Manag Subsets: MEDLINE

مواضيع طبية MeSH: Osteoarthritis, Knee*/complications , Osteoarthritis, Knee*/therapy , Nerve Block*/methods , Acute Pain*, Female ; Humans ; Aged ; Knee/innervation ; Pain Management/methods

المؤلفون: Tran AA; Department of Urology, University of Arkansas for Medical Sciences, Little Rock, AR 72223, United States., Machado BLC; Department of Urology, University of Arkansas for Medical Sciences, Little Rock, AR 72223, United States., Kuykendall KH; Department of Urology, University of Arkansas for Medical Sciences, Little Rock, AR 72223, United States., Spencer HJ; Department of Urology, University of Arkansas for Medical Sciences, Little Rock, AR 72223, United States., Scherzer ND; Department of Urology, University of Arkansas for Medical Sciences, Little Rock, AR 72223, United States., Almajed WS; Department of Urology, School of Medicine, Tulane University, New Orleans, Louisiana 70112, United States., Saghir N; Department of Plastic Surgery and Burns, Wythenshawe Hospital, Manchester, United Kingdom., Saghir R; Department of General Surgery, Calderdale and Huddersfield NHS Trust, Huddersfield, United Kingdom., Hellstrom WJG; Department of Urology, School of Medicine, Tulane University, New Orleans, Louisiana 70112, United States.

المصدر: Sexual medicine reviews [Sex Med Rev] 2023 Jun 27; Vol. 11 (3), pp. 278-290.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: Netherlands NLM ID: 101614773 Publication Model: Print Cited Medium: Internet ISSN: 2050-0521 (Electronic) Linking ISSN: 20500521 NLM ISO Abbreviation: Sex Med Rev Subsets: MEDLINE

مواضيع طبية MeSH: Microsurgery* , Amputation, Traumatic*/surgery , Amputation, Traumatic*/psychology, Male ; Humans ; Checklist ; Replantation ; Penis/surgery ; Postoperative Complications/surgery

المؤلفون: Zachariadou C; Biosciences Division, College of Dentistry, The Ohio State University, Columbus, Ohio, USA., Tran AA; Biosciences Division, College of Dentistry, The Ohio State University, Columbus, Ohio, USA., Farah FC; Biosciences Division, College of Dentistry, The Ohio State University, Columbus, Ohio, USA., Winter SO; Division of Pediatric Dentistry, College of Dentistry, The Ohio State University, Columbus, Ohio, USA.; Department of Dentistry, Nationwide Children's Hospital, Columbus, Ohio, USA., Hammersmith KJ; Division of Pediatric Dentistry, College of Dentistry, The Ohio State University, Columbus, Ohio, USA.; Department of Dentistry, Nationwide Children's Hospital, Columbus, Ohio, USA., Foster BL; Biosciences Division, College of Dentistry, The Ohio State University, Columbus, Ohio, USA.

المصدر: International journal of paediatric dentistry [Int J Paediatr Dent] 2023 May; Vol. 33 (3), pp. 254-258. Date of Electronic Publication: 2023 Mar 10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9107511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-263X (Electronic) Linking ISSN: 09607439 NLM ISO Abbreviation: Int J Paediatr Dent

مواضيع طبية MeSH: Odontogenesis* , Dental Enamel*, Infant ; Humans ; Dentin