421 resultados para mass-transport deposits
Filtro por publicador
- Aberdeen University (4)
- Aberystwyth University Repository - Reino Unido (2)
- Academic Archive On-line (Karlstad University; Sweden) (1)
- Acceda, el repositorio institucional de la Universidad de Las Palmas de Gran Canaria. España (4)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (6)
- Aquatic Commons (1)
- ArchiMeD - Elektronische Publikationen der Universität Mainz - Alemanha (16)
- Archimer: Archive de l'Institut francais de recherche pour l'exploitation de la mer (4)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (1)
- Aston University Research Archive (16)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (6)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (11)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (25)
- Brock University, Canada (2)
- Bucknell University Digital Commons - Pensilvania - USA (2)
- CaltechTHESIS (4)
- Cambridge University Engineering Department Publications Database (6)
- CentAUR: Central Archive University of Reading - UK (35)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (33)
- Cochin University of Science & Technology (CUSAT), India (6)
- Coffee Science - Universidade Federal de Lavras (2)
- CORA - Cork Open Research Archive - University College Cork - Ireland (5)
- CUNY Academic Works (1)
- Deakin Research Online - Australia (18)
- Digital Commons - Michigan Tech (3)
- Digital Commons at Florida International University (5)
- Diposit Digital de la UB - Universidade de Barcelona (1)
- DRUM (Digital Repository at the University of Maryland) (1)
- Duke University (3)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (1)
- Glasgow Theses Service (3)
- Greenwich Academic Literature Archive - UK (3)
- Helda - Digital Repository of University of Helsinki (1)
- Illinois Digital Environment for Access to Learning and Scholarship Repository (1)
- Indian Institute of Science - Bangalore - Índia (38)
- Lume - Repositório Digital da Universidade Federal do Rio Grande do Sul (1)
- Martin Luther Universitat Halle Wittenberg, Germany (1)
- Massachusetts Institute of Technology (1)
- Memorial University Research Repository (1)
- National Center for Biotechnology Information - NCBI (5)
- Plymouth Marine Science Electronic Archive (PlyMSEA) (1)
- Portal de Revistas Científicas Complutenses - Espanha (1)
- Publishing Network for Geoscientific & Environmental Data (153)
- QSpace: Queen's University - Canada (2)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (18)
- Queensland University of Technology - ePrints Archive (421)
- Repositório Científico da Universidade de Évora - Portugal (1)
- Repositorio de la Universidad de Cuenca (1)
- Repositório digital da Fundação Getúlio Vargas - FGV (1)
- Repositório Institucional da Universidade de Aveiro - Portugal (3)
- Repositório Institucional da Universidade Federal do Rio Grande do Norte (1)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (23)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (1)
- SAPIENTIA - Universidade do Algarve - Portugal (1)
- Universidad de Alicante (6)
- Universidad del Rosario, Colombia (3)
- Universidad Politécnica de Madrid (6)
- Universidade de Lisboa - Repositório Aberto (1)
- Universidade Federal do Pará (2)
- Universidade Federal do Rio Grande do Norte (UFRN) (6)
- Universita di Parma (1)
- Université de Lausanne, Switzerland (1)
- Université de Montréal, Canada (2)
- Université Laval Mémoires et thèses électroniques (1)
- University of Michigan (4)
- University of Queensland eSpace - Australia (9)
- University of Washington (1)
- Worcester Research and Publications - Worcester Research and Publications - UK (2)
Resumo:
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant condition characterized by bone fragility, irregular bone mineral density (BMD) and fibro-osseous lesions in the skull and jaw. Mutations in Anoctamin-5 (ANO5) have been identified in some cases. We aimed to identify the causative mutation in a family with features of GDD but no mutation in ANO5, using whole exome capture and massive parallel sequencing (WES). WES of two affected individuals (a mother and son) and the mother's unaffected parents identified a mutation in the C-propeptide cleavage site of COL1A1. Similar mutations have been reported in individuals with osteogenesis imperfecta (OI) and paradoxically increased BMD. C-propeptide cleavage site mutations in COL1A1 may not only cause 'high bone mass OI', but also the clinical features of GDD, specifically irregular sclerotic BMD and fibro-osseous lesions in the skull and jaw. GDD patients negative for ANO5 mutations should be assessed for mutations in type I collagen C-propeptide cleavage sites.