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SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-ß pathway and enhancing osteoclastogenesis.
El-Gazzar, Ahmed; Kang, Heeseog; Fratzl-Zelman, Nadja; Webb, Emma; Barnes, Aileen M; Jovanovic, Milena; Mehta, Sarju G; Datta, Vipan; Saraff, Vrinda; Dale, Ryan K; Rauch, Frank; Marini, Joan C; Högler, Wolfgang.
Afiliación
  • El-Gazzar A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
  • Kang H; Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Fratzl-Zelman N; Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1 Medical Department Hanusch Hospital, Vienna, Austria.
  • Webb E; Vienna Bone and Growth Center, Vienna, Austria.
  • Barnes AM; Department of Paediatrics, Jenny Lind Children's Hospital, Norfolk and Norwich University Hospital NHS Foundation Trust, Norwich, UK.
  • Jovanovic M; Norwich Medical School, University of East Anglia, Norwich, UK.
  • Mehta SG; Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Datta V; Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
  • Saraff V; East Anglian Regional Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.
  • Dale RK; Department of Paediatrics, Jenny Lind Children's Hospital, Norfolk and Norwich University Hospital NHS Foundation Trust, Norwich, UK.
  • Rauch F; Department of Endocrinology and Diabetes, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Marini JC; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.
  • Högler W; Shriners Hospital for Children-Canada, Montreal, QC H4A 0A9, Canada.
Bone Rep ; 17: 101603, 2022 Dec.
Article en En | MEDLINE | ID: mdl-35874167
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Bone Rep Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Bone Rep Año: 2022 Tipo del documento: Article