Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa-Reference-Cited by-同舟云学术

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Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

Published:2012-08-13 Issue:1 Volume:34 Page:111-121
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Callewaert Bert¹,Su Chi-Ting²,Van Damme Tim¹,Vlummens Philip¹,Malfait Fransiska¹,Vanakker Olivier¹,Schulz Bianca²,Mac Neal Meghan²,Davis Elaine C.³,Lee Joseph G.H.³,Salhi Aicha⁴,Unger Sheila⁵,Heimdal Ketil⁶,De Almeida Salome⁷,Kornak Uwe⁸,Gaspar Harald⁹,Bresson Jean-Luc¹⁰,Prescott Katrina¹¹,Gosendi Maria E.¹²,Mansour Sahar¹³,Piérard Gérald E.¹⁴,Madan-Khetarpal Suneeta¹⁵,Sciurba Frank C.¹⁶,Symoens Sofie¹,Coucke Paul J¹,Van Maldergem Lionel¹⁷,Urban Zsolt²,De Paepe Anne¹

Affiliation:

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

2. Department of Human Genetics; Graduate School of Public Health; University of Pittsburgh; Pittsburgh; Pennsylvania

3. Department of Anatomy and Cell Biology; McGill University; Montreal; Canada

4. Department of Dermatology; Faculty of Medicine; Alger; Algeria

5. Service of Medical Genetics; Centre Hospitalier Universitaire Vaudois; Lausanne; Switzerland

6. Department of Medical Genetics; Oslo University Hospital; Olso; Norway

7. Department of Medical Genetics; Hospitals Civis De Lisboa; Lisboa; Portugal

8. Charité, Campus Virchow-Klinikum; Berlin; Germany

9. Institute of Human Genetics; Heidelberg University; Heidelberg; Germany

10. Service de Génétique; CHU Saint-Jacques; Besançon; France

11. Department of Clinical Genetics; Chapel Allerton Hospital; Leeds; UK

12. Department of Pediatrics; General Hospital of Llerenda; Badajoz; Spain

13. Department of Clinical genetics; St George's University of London; London; UK

14. Department of Dermatopathology University Hospital of Liège; Liège; Belgium

15. Division of Medical Genetics; Department of Pediatrics; Children's Hospital of Pittsburgh; Pennsylvania

16. Division of Pulmonary and Critical Care Medicine; University of Pittsburgh School of Medicine; Pittsburgh; Pennsylvania

17. Centre de Génétique Humaine; Université de Franche-Comté; Besançon; France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22165/fullpdf

Reference41 articles.

1. An assay for transforming growth factor-beta using cells transfected with a plasminogen activator inhibitor-1 promoter-luciferase construct;Abe;Anal Biochem,1994

2. Integrin alphaVbeta6-mediated activation of latent TGF-beta requires the latent TGF-beta binding protein-1;Annes;J Cell Biol,2004

3. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome;Bicknell;Eur J Hum Genet,2008

4. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations;Callewaert;Hum Mutat,2011

5. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families;Callewaert;Hum Mutat,2008

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1. Arterial tortuosity syndrome presented as nonvisualization of thoracic aorta in preoperative transthoracic echocardiogram: A case report;Radiology Case Reports;2023-09

2. LTBP4 Protects Against Renal Fibrosis via Mitochondrial and Vascular Impacts;Circulation Research;2023-06-23

3. Genetics of Cutis Laxa;Encyclopedia of Life Sciences;2023-06-08

4. First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C;American Journal of Medical Genetics Part A;2022-08-16

5. <b><i>FBLN5</i></b>-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature;Molecular Syndromology;2022-07-06

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