Alku mutation publications
Search PubMed latest citations for FERMT3 mutations
2011
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A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion.
Robert P, Canault M, Farnarier C, Nurden A, Grosdidier C, Barlogis V, Bongrand P, Pierres A, Chambost H, Alessi MC
J Immunol 2011(9): 5273-83
[PubMed abstract].
2010
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Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro.
McDowall A, Svensson L, Stanley P, Patzak I, Chakravarty P, Howarth K, Sabnis H, Briones M, Hogg N
Blood 2010(23): 4834-42
[PubMed abstract].
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Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.
Jurk K, Schulz AS, Kehrel BE, Räpple D, Schulze H, Möbest D, Friedrich WW, Omran H, Deak E, Henschler R, Scheele JS, Zieger B
Thromb Haemost 2010(5): 1053-64
[PubMed abstract].
2009
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Loss of Kindlin-3 in LAD-III eliminates LFA-1 but not VLA-4 adhesiveness developed under shear flow conditions.
Manevich-Mendelson E, Feigelson SW, Pasvolsky R, Aker M, Grabovsky V, Shulman Z, Kilic SS, Rosenthal-Allieri MA, Ben-Dor S, Mory A, Bernard A, Moser M, Etzioni A, Alon R
Blood 2009(11): 2344-53
[PubMed abstract].
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Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.
Svensson L, Howarth K, McDowall A, Patzak I, Evans R, Ussar S, Moser M, Metin A, Fried M, Tomlinson I, Hogg N
Nat Med 2009(3): 306-12
[PubMed abstract].
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LAD-1/variant syndrome is caused by mutations in FERMT3.
Kuijpers TW, van de Vijver E, Weterman MA, de Boer M, Tool AT, van den Berg TK, Moser M, Jakobs ME, Seeger K, Sanal O, Unal S, Cetin M, Roos D, Verhoeven AJ, Baas F
Blood 2009(19): 4740-6
[PubMed abstract].
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A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans.
Malinin NL, Zhang L, Choi J, Ciocea A, Razorenova O, Ma YQ, Podrez EA, Tosi M, Lennon DP, Caplan AI, Shurin SB, Plow EF, Byzova TV
Nat Med 2009(3): 313-8
[PubMed abstract].
2008
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Kindlin-3: a new gene involved in the pathogenesis of LAD-III.
Mory A, Feigelson SW, Yarali N, Kilic SS, Bayhan GI, Gershoni-Baruch R, Etzioni A, Alon R
Blood 2008(6): 2591
[PubMed abstract].
2007
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Natural history and early diagnosis of LAD-1/variant syndrome.
Kuijpers TW, van Bruggen R, Kamerbeek N, Tool AT, Hicsonmez G, Gurgey A, Karow A, Verhoeven AJ, Seeger K, Sanal O, Niemeyer C, Roos D
Blood 2007(8): 3529-37
[PubMed abstract].
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