| Literature DB >> 12789646 |
Dawn H Siegel1, Gabrielle H S Ashton, Homero G Penagos, James V Lee, Heidi S Feiler, Kirk C Wilhelmsen, Andrew P South, Frances J D Smith, Alan R Prescott, Vesarat Wessagowit, Noritaka Oyama, Masashi Akiyama, Daifullah Al Aboud, Khalid Al Aboud, Ahmad Al Githami, Khalid Al Hawsawi, Abla Al Ismaily, Raouf Al-Suwaid, David J Atherton, Ruggero Caputo, Jo-David Fine, Ilona J Frieden, Elaine Fuchs, Richard M Haber, Takashi Harada, Yasuo Kitajima, Susan B Mallory, Hideoki Ogawa, Sedef Sahin, Hiroshi Shimizu, Yasushi Suga, Gianluca Tadini, Kikuo Tsuchiya, Colin B Wiebe, Fenella Wojnarowska, Adel B Zaghloul, Takahiro Hamada, Rajeev Mallipeddi, Robin A J Eady, W H Irwin McLean, John A McGrath, Ervin H Epstein.
Abstract
Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis in an isolated Panamanian cohort and in additional inbred families mapped the gene to 20p12.3. Loss-of-function mutations were identified in the FLJ20116 gene (renamed "KIND1" [encoding kindlin-1]). Kindlin-1 is a human homolog of the Caenorhabditis elegans protein UNC-112, a membrane-associated structural/signaling protein that has been implicated in linking the actin cytoskeleton to the extracellular matrix (ECM). Thus, Kindler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin-ECM linkage.Entities:
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Year: 2003 PMID： 12789646 PMCID： PMC1180579 DOI： 10.1086/376609
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025