Các đột biến trong Fibrillin-1 gây ra bệnh xơ cứng bẩm sinh: Hội chứng da cứng

American Association for the Advancement of Science (AAAS) - Tập 2 Số 23 - 2010
Bart Loeys1,2, Elizabeth E. Gerber2, Douglas L. Riegert‐Johnson3, Sarah Iqbal4, Pat Whiteman4, Vivienne McConnell5, Chandramouli Chillakuri6,7, Daniela Macaya8, Paul Coucke1, Anne De Paepe1, Daniel P. Judge9, Fredrick M. Wigley9, Elise Davis10, Helen J. Mardon6,7, Penny A. Handford4, Douglas R. Keene11, Lynn Y. Sakai11, Harry C. Dietz2
1Center for Medical Genetics, Ghent University Hospital, Ghent 9000, Belgium
2Institute 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.
3Mayo Clinic, Jacksonville, FL 55905, USA.
4Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK
5Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast BT9 7AB, Ireland.
6Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington OX3 9DU, UK.
7Oxford University Hospitals NHS Foundation Trust
8Cardiovascular Genetics, GeneDx, Gaithersburg, MD 20877, USA.
9Department of Medicine Johns Hopkins University School of Medicine, Baltimore, MD 21205 USA
10McGill University, Montreal, Quebec H3A 2K6, Canada.
11Shriners Hospital for Children, Portland, OR 97239, USA

Tóm tắt

Hội chứng da cứng, một dạng xơ cứng tự phát bẩm sinh di truyền theo kiểu trội trên nhiễm sắc thể thường, được gây ra bởi các đột biến trong miền của fibrillin-1, mà vị trí này liên quan đến sự gắn kết của integrin.

Từ khóa


Tài liệu tham khảo

10.1007/s12016-008-8106-x

Esterly N. B., McKusick V. A., Stiff skin syndrome. Pediatrics 47, 360–369 (1971).

Amoric J. C., Stalder J. F., David A., Bureau B., Pierard G. E., Litoux P., Dysmorphism in stiff skin syndrome. Ann. Dermatol. Venereol. 118, 802–804 (1991).

Bodemer C., Habib K., Teillac D., Munich A., de Prost Y., A new case of stiff skin syndrome. Ann. Dermatol. Venereol. 118, 805–806 (1991).

Bundy S. E., Lie K., Stiff skin syndrome. Birth Defects Orig. Artic. Ser. 11, 360–361 (1975).

DiRocco M., Clinical images: Stiff skin syndrome. Arthritis Rheum. 43, 1542 (2000).

Esterly N. B., The stiff skin syndrome. Birth Defects Orig. Artic. Ser. 7, 306–308 (1971).

Ferrari D., Rossi R., Donzelli O., Stiff-skin syndrome. Chir. Organi. Mov. 90, 69–73 (2005).

10.1111/j.1468-3083.2006.01619.x

10.1159/000246666

Helm T. N., Wirth P. B., Helm K. F., Congenital fascial dystrophy: The stiff skin syndrome. Cutis 60, 153–154 (1997).

10.1111/j.0736-8046.2004.21422.x

10.1111/j.1525-1470.1984.tb00453.x

10.1016/S0190-9622(89)70280-2

10.1111/j.1525-1470.1985.tb00486.x

Lê T., Piérard G. E., Stiff skin syndrome. Ann. Dermatol. Venereol. 116, 807–809 (1989).

10.1001/archderm.144.10.1351

10.1111/j.1525-1470.2007.00417.x

10.1067/mjd.2000.107961

10.1159/000017983

Green M. C., Sweet H. O., Bunker L. E., Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton. Am. J. Pathol. 82, 493–512 (1976).

10.1101/gr.6.4.300

10.1038/352337a0

10.1634/stemcells.2005-0575

10.1083/jcb.150.3.667

10.1083/jcb.140.5.1159

Leszczynski D., Renkonen R., Häyry P., Bone marrow transplantation in the rat. III. Structure of the liver inflammatory lesion in acute graft-versus-host disease. Am. J. Pathol. 120, 316–322 (1985).

10.3109/08916939808996283

10.3109/08916939109006746

10.1006/jaut.1993.1059

10.3181/00379727-192-42979

10.1002/1529-0131(200104)44:4<893::AID-ANR146>3.0.CO;2-3

10.1002/art.11220

Tan F. K., Arnett F. C., Antohi S., Saito S., Mirarchi A., Spiera H., Sasaki T., Shoichi O., Takeuchi K., Pandey J. P., Silver R. M., LeRoy C., Postlethwaite A. E., Bona C. A., Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. J. Immunol. 163, 1066–1072 (1999).

10.1002/1529-0131(200011)43:11<2464::AID-ANR13>3.0.CO;2-F

10.1186/ar1813

10.1007/s11926-009-0017-1

10.4049/jimmunol.175.7.4555

10.1074/jbc.M209256200

10.1038/ng1116

10.1038/nm1536

10.1126/science.1124287

10.1097/01.brs.0000152166.88174.1c

10.1172/JCI200422715

10.1074/jbc.M607008200

10.1038/nrrheum.2009.26

10.1111/j.1524-475X.2008.00410.x

10.1002/path.2277

10.1056/NEJMra0806188

10.1042/bst023506s

10.1016/j.str.2004.02.023

10.1093/emboj/16.22.6659

10.1006/geno.1993.1350

10.1038/352334a0

Qin Y., Yan J., Simpson J. L., Gu H. F., Wang L. C., Chen Z. J., Novel non-synonymous mutation in the transforming growth factor β binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS). Neuro. Endocrinol. Lett. 28, 629–632 (2007).

10.1083/jcb.200105046

10.1016/0014-5793(96)00325-0

10.1074/jbc.271.9.4916

10.1152/ajpheart.00151.2005

Fleischmajer R., Jacobs L., Schwartz E., Sakai L. Y., Extracellular microfibrils are increased in localized and systemic scleroderma skin. Lab. Invest. 64, 791–798 (1991).

10.1083/jcb.200703021

10.1042/BST0360257

10.1074/jbc.M303159200

10.3109/03008209809028898

Yu Q., Stamenkovic I., Cell surface-localized matrix metalloproteinase-9 proteolytically activates TGF-β and promotes tumor invasion and angiogenesis. Genes Dev. 14, 163–176 (2000).

10.1186/bcr1524

10.1074/jbc.M403010200

10.1016/j.ejcb.2008.01.012

10.1083/jcb.200611044

10.4049/jimmunol.175.11.7708

10.2741/2277

10.1038/sj.jid.5700786

10.3109/03008209909029107

10.1002/1529-0131(199912)42:12<2656::AID-ANR22>3.0.CO;2-N

10.1159/000049191

10.1002/humu.20070

10.1074/jbc.M809348200

10.1016/0076-6879(94)45004-8

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American Association for the Advancement of Science (AAAS)

Tập 2 Số 23

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