Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
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DOI：
10.1126/scitranslmed.3000488
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发表时间：
2010-03-17
影响因子：
17.1
通讯作者：
Dietz HC
中科院分区：
文献类型：
--
作者：
Loeys BL;Gerber EE;Riegert-Johnson D;Iqbal S;Whiteman P;McConnell V;Chillakuri CR;Macaya D;Coucke PJ;De Paepe A;Judge DP;Wigley F;Davis EC;Mardon HJ;Handford P;Keene DR;Sakai LY;Dietz HC
The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 that mediates integrin binding. Ordered polymers of fibrillin-1 (termed microfibrils) initiate elastic fiber assembly and bind to and regulate the activation of the pro-fibrotic cytokine transforming growth factor β (TGFβ). Altered cell-matrix interactions in SSS accompany excessive microfibrillar deposition, impaired elastogenesis, and increased TGFβ concentration and signaling in the dermis. The observation of similar findings in systemic sclerosis (SSc), a more common acquired form of scleroderma, suggests broad pathogenic relevance.
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影响因子：
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作者：
Cohn, Ronald D.;van Erp, Christel;Dietz, Harry C.
通讯作者：
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影响因子：
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