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Literature DB >> 17460733

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

Joey E Lai-Cheong, Lu Liu, Gomathy Sethuraman, Rajesh Kumar, Vinod K Sharma, Siva R Reddy, Anders Vahlquist, Sandra Pather, Ken Arita, Vesarat Wessagowit, John A McGrath.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2007 PMID： 17460733 DOI： 10.1038/sj.jid.5700830

Source DB: PubMed Journal: J Invest Dermatol ISSN： 0022-202X Impact factor: 8.551

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6 in total

1. A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.

Authors: Ying Gao; Jin-li Bai; Xiao-yan Liu; Yu-jin Qu; Yan-yan Cao; Jian-cai Wang; Yu-wei Jin; Hong Wang; Fang Song
Journal: J Zhejiang Univ Sci B Date: 2015-11 Impact factor: 3.066

2. Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.

Authors: Joey E Lai-Cheong; Maddy Parsons; Akio Tanaka; Siegfried Ussar; Andrew P South; Sethuraman Gomathy; John B Mee; Jean-Baptiste Barbaroux; Tanasit Techanukul; Noor Almaani; Suzanne E Clements; Ian R Hart; John A McGrath
Journal: Am J Pathol Date: 2009-09-17 Impact factor: 4.307

3. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

Authors: J E Lai-Cheong; S Ussar; K Arita; I R Hart; J A McGrath
Journal: J Invest Dermatol Date: 2008-06-05 Impact factor: 8.551

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

1. A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.

2. Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.

3. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

4. Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction.

Review 5. Structural basis of blocking integrin activation and deactivation for anti-inflammation.

6. Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling.