NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina-Reference-Cited by-同舟云学术

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Published:2015-08-19 Issue:12 Volume:167 Page:2902-2912
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Segarra Nuria Garcia¹,Ballhausen Diana¹,Crawford Heather²,Perreau Matthieu³,Campos-Xavier Belinda¹,van Spaendonck-Zwarts Karin⁴,Vermeer Cees⁵,Russo Michel⁶,Zambelli Pierre-Yves⁷,Stevenson Brian⁸,Royer-Bertrand Beryl⁹,Rivolta Carlo⁹,Candotti Fabio³,Unger Sheila⁹,Munier Francis L.¹⁰,Superti-Furga Andrea¹¹,Bonafé Luisa¹

Affiliation:

1. Center for Molecular Diseases; Lausanne University Hospital; Lausanne Switzerland

2. Clinical Metabolic Genetics; Cook Children's Health Care System; Fort Worth Texas USA

3. Division of Immunology and Allergy; Lausanne University Hospital; Lausanne Switzerland

4. Department of Clinical Genetics; Academic Medical Center; University of Amsterdam; Amsterdam Netherlands

5. VitaK and Cardiovascular Research Institute Maastricht; Maastricht University; Maastricht Netherlands

6. Pediatric Service; Centre Hospitalier du Centre Valais; Sion Switzerland

7. Service of Pediatric Surgery; Lausanne University Hospital; Lausanne Switzerland

8. Vital-IT group; Swiss Institute of Bioinformatics; University of Lausanne; Switzerland

9. Department of Medical Genetics; Lausanne University Hospital; Lausanne Switzerland

10. Jules-Gonin Eye Hospital; Lausanne; Switzerland

11. Department of Pediatrics; Lausanne University Hospital; Lausanne Switzerland

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. CCL20 mediates lipopolysaccharide induced liver injury and is a potential driver of inflammation and fibrosis in alcoholic hepatitis;Affo;Gut,2014

2. Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport;Aoki;Mol Biol Cell,2009

3. The biology of innate lymphoid cells;Artis;Nature,2015

4. Organic acids in the second morning urine in a healthy Swiss paediatric population;Boulat;Clin Chem Lab Med,2003

5. Circulating matrix gamma-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome;Cranenburg;J Thromb Haemost,2011

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