New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of fiveELNmutations-Reference-Cited by-同舟云学术

New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of fiveELNmutations

Published:2011-03 Issue:4 Volume:32 Page:445-455
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Callewaert Bert¹²,Renard Marjolijn¹,Hucthagowder Vishwanathan²,Albrecht Beate³,Hausser Ingrid⁴,Blair Edward⁵,Dias Cristina⁶,Albino Alice⁷,Wachi Hiroshi⁸,Sato Fumiaki⁸,Mecham Robert P.⁹,Loeys Bart¹¹⁰,Coucke Paul J.¹,De Paepe Anne¹,Urban Zsolt²¹¹

Affiliation:

1. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

2. Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri

3. Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany

4. Department of Dermatology, University of Heidelberg, Heidelberg, Germany

5. Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom

6. Centro de Genética Médica Doutor Jacinto Magalhães, INSARJ, Porto, Portugal

7. Department of Pediatrics, Hospital de Crianças Maria Pia, Centro Hospitalar do Porto, Porto, Portugal

8. Department of Clinical Chemistry, Hoshi University School of Pharmacy and Pharmaceutical Sciences, Tokyo, Japan

9. Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri

10. Center of Medical Genetics, University of Antwerp, Antwerp, Belgium

11. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania

Funder

The National Institutes of Health

Methusalem grant from the Flemmish Government and the Ghent University

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.21462

Reference45 articles.

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2. A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

3. Tropoelastin Interacts with Cell-surface Glycosaminoglycans via Its COOH-terminal Domain

4. Cutis laxa;Brown FR;Johns Hopkins Med J,1982

5. Microfibril‐associated glycoprotein binds to the carboxyl‐terminal domain of tropoelastin and is a substrate for transglutaminase;Brown‐Augsburger P;J Biol Chem,1994

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