The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks-Reference-Cited by-同舟云学术

The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks

Published:2018-02-09 Issue:8 Volume:27 Page:1447-1459
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Briand Nolwenn¹²,Guénantin Anne-Claire²³,Jeziorowska Dorota⁴,Shah Akshay¹,Mantecon Matthieu²,Capel Emilie²,Garcia Marie²,Oldenburg Anja¹,Paulsen Jonas¹,Hulot Jean-Sebastien⁴,Vigouroux Corinne²⁵,Collas Philippe¹⁶

Affiliation:

1. Department of Molecular Medicine, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, 0317 Oslo, Norway

2. Sorbonne Université, Inserm UMR S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, 75012 Paris, France

3. Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK

4. Sorbonne Université, UPMC Université Paris 6, UMR-S1166 ICAN, 75013 Paris, France

5. AP-HP Saint-Antoine Hospital, Molecular Biology and Genetics Laboratory, Endocrinology Department, National Reference Center for Insulin Secretion and Insulin Sensitivity Rare Diseases, 75012 Paris, France

6. Department of Immunology and Transfusion Medicine, Norwegian Center for Stem Cell Research, Oslo University Hospital, 0424 Oslo, Norway

Funder

Research Council of Norway

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/8/1447/24527126/ddy055.pdf

Reference74 articles.

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2. New metabolic phenotypes in laminopathies: lMNA mutations in patients with severe metabolic syndrome;Decaudain;J. Clin. Endocrinol. Metab,2007

3. Nuclear envelope-related lipodystrophies;Guenantin;Semin. Cell Dev. Biol,2014

4. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety);Garg;J. Clin. Endocrinol. Metab,2000

5. Premature atherosclerosis associated with monogenic insulin resistance;Hegele;Circulation,2001

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