@article{a2a18a5108364e978f6ac0efc386b0e3,
title = "Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome",
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.",
author = "Siegel, {Dawn H.} and Ashton, {Gabrielle H.S.} and Penagos, {Homero G.} and Lee, {James V.} and Feiler, {Heidi S.} and Wilhelmsen, {Kirk C.} and South, {Andrew P.} and Smith, {Frances J.D.} and Prescott, {Alan R.} and Vesarat Wessagowit and Noritaka Oyama and Masashi Akiyama and {Al Aboud}, Daifullah and {Al Aboud}, Khalid and {Al Githami}, Ahmad and {Al Hawsawi}, Khalid and {Al Ismaily}, Abla and Raouf Al-Suwaid and Atherton, {David J.} and Ruggero Caputo and Fine, {Jo David} and Frieden, {Ilona J.} and Elaine Fuchs and Haber, {Richard M.} and Takashi Harada and Yasuo Kitajima and Mallory, {Susan B.} and Hideoki Ogawa and Sedef Sahin and Hiroshi Shimizu and Yasushi Suga and Gianluca Tadini and Kikuo Tsuchiya and Wiebe, {Colin B.} and Fenella Wojnarowska and Zaghloul, {Adel B.} and Takahiro Hamada and Rajeev Mallipeddi and Eady, {Robin A.J.} and McLean, {W. H.Irwin} and McGrath, {John A.} and Epstein, {Ervin H.}",
note = "Funding Information: We are grateful to the patients for their participation in this study. The work was supported by an Individual National Research Service Award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (AR 123456) and a fellowship from the Society for Pediatric Dermatology (to D.H.S.), Action Research, the Dystrophic Epidermolysis Bullosa Research Association (UK) and the British Skin Foundation. W.H.I.M. and F.J.D.S. are funded by a Wellcome Trust Senior Research Fellowship (to W.H.I.M.). The Centre for High-Resolution Imaging and Processing, Dundee, is supported by the Medical Research Council and the Wellcome Trust. We thank Galderma, for the generous donation of sunscreen for patients in Panama, and Christina Walker and Fintan Coleman, for their help in preparation of the manuscript. ",
year = "2003",
month = jul,
day = "1",
doi = "10.1086/376609",
language = "English (US)",
volume = "73",
pages = "174--187",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",
}