Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome

Dawn H. Siegel; Gabrielle H. S. Ashton; Homero G. Penagos; James V. Lee; Heidi S. Feiler; Kirk C. Wilhelmsen; Andrew P. South; Frances 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; Irwin McLean; John A. McGrath; Ervin H. Epstein

doi:10.1086/376609

Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome

Dawn H. Siegel, Gabrielle H. S. Ashton, Homero G. Penagos, James V. Lee, Heidi S. Feiler, Kirk C. Wilhelmsen, Andrew P. South, Frances 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 CaputoJo-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, Irwin McLean, John A. McGrath, Ervin H. Epstein

Research output: Contribution to journal › Article › peer-review

282 Citations (Scopus)

Original language	English
Pages (from-to)	174-187
Number of pages	14
Journal	American Journal of Human Genetics
Volume	73
Issue number	1
DOIs	https://doi.org/10.1086/376609
Publication status	Published - 2003

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Siegel, D. H., Ashton, G. H. S., Penagos, H. G., Lee, J. V., Feiler, H. S., Wilhelmsen, K. C., South, A. P., Smith, F., Prescott, A. R., Wessagowit, V., Oyama, N., Akiyama, M., Al Aboud, D., Al Aboud, K., Al Githami, A., Al Hawsawi, K., Al Ismaily, A., Al-Suwaid, R., Atherton, D. J., ... Epstein, E. H. (2003). Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome. American Journal of Human Genetics, 73(1), 174-187. https://doi.org/10.1086/376609

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title = "Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome",

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 Frances Smith 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 Jo-David Fine 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 Irwin McLean and McGrath, {John A.} and Epstein, {Ervin H.}",

note = "dc.publisher: Elsevier Contributing author involved in the planning, laboratory work and writing of the first paper to identify a new family of actin linker proteins (now the focus of substantial research activity) and to map and identify the gene for Kindler syndrome, a rare skin blistering, skin atrophy, photosensitivity disorder. ",

year = "2003",

doi = "10.1086/376609",

language = "English",

volume = "73",

pages = "174--187",

journal = "American Journal of Human Genetics",

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Siegel, DH, Ashton, GHS, Penagos, HG, Lee, JV, Feiler, HS, Wilhelmsen, KC, South, AP, Smith, F, Prescott, AR, Wessagowit, V, Oyama, N, Akiyama, M, Al Aboud, D, Al Aboud, K, Al Githami, A, Al Hawsawi, K, Al Ismaily, A, Al-Suwaid, R, Atherton, DJ, Caputo, R, Fine, J-D, Frieden, IJ, Fuchs, E, Haber, RM, Harada, T, Kitajima, Y, Mallory, SB, Ogawa, H, Sahin, S, Shimizu, H, Suga, Y, Tadini, G, Tsuchiya, K, Wiebe, CB, Wojnarowska, F, Zaghloul, AB, Hamada, T, Mallipeddi, R, Eady, RAJ, McLean, I, McGrath, JA & Epstein, EH 2003, 'Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome', American Journal of Human Genetics, vol. 73, no. 1, pp. 174-187. https://doi.org/10.1086/376609

TY - JOUR

T1 - Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome

AU - Siegel, Dawn H.

AU - Ashton, Gabrielle H. S.

AU - Penagos, Homero G.

AU - Lee, James V.

AU - Feiler, Heidi S.

AU - Wilhelmsen, Kirk C.

AU - South, Andrew P.

AU - Smith, Frances

AU - Prescott, Alan R.

AU - Wessagowit, Vesarat

AU - Oyama, Noritaka

AU - Akiyama, Masashi

AU - Al Aboud, Daifullah

AU - Al Aboud, Khalid

AU - Al Githami, Ahmad

AU - Al Hawsawi, Khalid

AU - Al Ismaily, Abla

AU - Al-Suwaid, Raouf

AU - Atherton, David J.

AU - Caputo, Ruggero

AU - Fine, Jo-David

AU - Frieden, Ilona J.

AU - Fuchs, Elaine

AU - Haber, Richard M.

AU - Harada, Takashi

AU - Kitajima, Yasuo

AU - Mallory, Susan B.

AU - Ogawa, Hideoki

AU - Sahin, Sedef

AU - Shimizu, Hiroshi

AU - Suga, Yasushi

AU - Tadini, Gianluca

AU - Tsuchiya, Kikuo

AU - Wiebe, Colin B.

AU - Wojnarowska, Fenella

AU - Zaghloul, Adel B.

AU - Hamada, Takahiro

AU - Mallipeddi, Rajeev

AU - Eady, Robin A. J.

AU - McLean, Irwin

AU - McGrath, John A.

AU - Epstein, Ervin H.

N1 - dc.publisher: Elsevier Contributing author involved in the planning, laboratory work and writing of the first paper to identify a new family of actin linker proteins (now the focus of substantial research activity) and to map and identify the gene for Kindler syndrome, a rare skin blistering, skin atrophy, photosensitivity disorder.

PY - 2003

Y1 - 2003

UR - http://www.scopus.com/inward/record.url?eid=2-s2.0-0038389789&partnerID=MN8TOARS

U2 - 10.1086/376609

DO - 10.1086/376609

M3 - Article

C2 - 12789646

SN - 0002-9297

VL - 73

SP - 174

EP - 187

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome

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