Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome-Reference-Cited by-同舟云学术

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

Published:2010-03-17 Issue:23 Volume:2 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Loeys B. L.¹²,Gerber E. E.¹,Riegert-Johnson D.³,Iqbal S.⁴,Whiteman P.⁴,McConnell V.⁵,Chillakuri C. R.⁶,Macaya D.⁷,Coucke P. J.²,De Paepe A.²,Judge D. P.⁸,Wigley F.⁸,Davis E. C.⁹,Mardon H. J.⁶,Handford P.⁴,Keene D. R.¹⁰,Sakai L. Y.¹⁰,Dietz H. C.¹

Affiliation:

1. Institute of Genetic Medicine and Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Broadway Research Building, Room 539, 733 North Broadway, Baltimore, MD 21205, USA.

2. Center for Medical Genetics, Ghent University Hospital, Ghent 9000, Belgium.

3. Mayo Clinic, Jacksonville, FL 55905, USA.

4. Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK.

5. Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast BT9 7AB, Ireland.

6. Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington OX3 9DU, UK.

7. Cardiovascular Genetics, GeneDx, Gaithersburg, MD 20877, USA.

8. Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

9. McGill University, Montreal, Quebec H3A 2K6, Canada.

10. Shriners Hospital for Children, Portland, OR 97239, USA.

Abstract

Stiff skin syndrome, an autosomal dominant congenital form of scleroderma, is caused by mutations in the domain of fibrillin-1 that mediates integrin binding.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference78 articles.

1. Vascular Disease in Scleroderma

2. Stiff skin syndrome.;Esterly N. B.;Pediatrics,1971

3. Dysmorphism in stiff skin syndrome.;Amoric J. C.;Ann. Dermatol. Venereol.,1991

4. A new case of stiff skin syndrome.;Bodemer C.;Ann. Dermatol. Venereol.,1991

5. Stiff skin syndrome.;Bundy S. E.;Birth Defects Orig. Artic. Ser.,1975

Cited by 193 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The extracellular matrix glycoprotein fibrillin-1 in health and disease;Frontiers in Cell and Developmental Biology;2024-01-10

2. Segmental Skin Induration in a Boy;JAMA Dermatology;2024-01-10

3. Multi‐organ phenotypes in mice lacking latent TGFβ binding protein 2 (LTBP2);Developmental Dynamics;2023-09-09

4. Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies;Diagnostics;2023-07-05

5. Role of elastic fiber degradation in disease pathogenesis;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2023-06