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Literature DB >> 17916195

Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.

B C F Martignago, J E Lai-Cheong, L Liu, J A McGrath, T F Cestari.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2007 PMID： 17916195 DOI： 10.1111/j.1365-2133.2007.08219.x

Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302

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6 in total

1. A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

Authors: Nadja Chmel; Sorina Danescu; Amelie Gruler; Dimitra Kiritsi; Leena Bruckner-Tuderman; Alexander Kreuter; Jürgen Kohlhase; Cristina Has
Journal: J Invest Dermatol Date: 2015-06-17 Impact factor: 8.551

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

Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.

1. A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

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. Is adermatoglyphia an additional feature of Kindler Syndrome?

5. Sporadic Kindler syndrome with a novel mutation.

6. Kindlin-1 Regulates Keratinocyte Electrotaxis.