A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections

被引：14

作者：

Boudreaux, Mary K. ^{[1
]}

Wardrop, K. Jane ^{[2
]}

Kiklevich, Veronika ^{[3
]}

Felsburg, Peter ^{[4
]}

Snekvik, Kevin ^{[5
]}

机构：

[1] Auburn Univ, Coll Vet Med, Dept Pathobiol, Auburn, AL 36849 USA

[2] Washington State Univ, Dept Vet Clin Sci, Pullman, WA 99164 USA

[3] San Antonio Vet Referral Specialists, San Antonio, TX USA

[4] Univ Penn, Dept Clin Studies PHL, Philadelphia, PA 19104 USA

[5] Washington State Univ, Dept Vet Microbiol & Pathol, Pullman, WA 99164 USA

来源：

THROMBOSIS AND HAEMOSTASIS | 2010年 / 103卷 / 02期

关键词：

LEUKOCYTE ADHESION; CALDAG-GEFI; PLATELET-AGGREGATION; INTEGRIN ACTIVATION; LAD-III;

D O I：

10.1160/TH09-09-0571

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：475 / 477

页数：3

共 11 条

[1] Mice lacking the signaling molecule CaIDAG-GEFI represent a model for leukocyte adhesion deficiency type III [J].

Bergmeier, Wolfgang ;

Goerge, Tobias ;

Wang, Hong-Wei ;

Crittenden, Jill R. ;

Baldwin, Andrew C. W. ;

Cifuni, Stephen M. ;

Housman, David E. ;

Graybiel, Ann M. ;

Wagner, Denisa D. .

JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (06) :1699-1707

[2] Calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) gene mutations in a thrombopathic simmental calf [J].

Boudreaux, M. K. ;

Schmutz, S. M. ;

French, P. S. .

VETERINARY PATHOLOGY, 2007, 44 (06) :932-935

[3] Calcium-Diacylglycerol Guanine Nucleotide Exchange Factor I gene mutations associated with loss of function in canine platelets [J].

Boudreaux, Mary K. ;

Catalfamo, James L. ;

Klok, Marion .

TRANSLATIONAL RESEARCH, 2007, 150 (02) :81-92

[4] CalDAG-GEFI integrates signaling for platelet aggregation and thrombus formation [J].

Crittenden, JR ;

Bergmeier, W ;

Zhang, YY ;

Piffath, CL ;

Liang, YQ ;

Wagner, DD ;

Housman, DE ;

Graybiel, AM .

NATURE MEDICINE, 2004, 10 (09) :982-986

[5] The Clinical Spectrum of Leukocyte Adhesion Deficiency (LAD) III due to Defective CalDAG-GEF1 [J].

Kilic, Sara S. ;

Etzioni, Amos .

JOURNAL OF CLINICAL IMMUNOLOGY, 2009, 29 (01) :117-122

[6] LAD-1/variant syndrome is caused by mutations in FERMT3 [J].

Kuijpers, Taco W. ;

van de Vijver, Edith ;

Weterman, Marian A. J. ;

de Boer, Martin ;

Tool, Anton T. J. ;

van den Berg, Timo K. ;

Moser, Markus ;

Jakobs, Marja E. ;

Seeger, Karl ;

Sanal, Oezden ;

Uenal, Sule ;

Cetin, Mualla ;

Roos, Dirk ;

Verhoeven, Arthur J. ;

Baas, Frank .

BLOOD, 2009, 113 (19) :4740-4746

[7] A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans [J].

Malinin, Nikolay L. ;

Zhang, Li ;

Choi, Jeongsuk ;

Ciocea, Alieta ;

Razorenova, Olga ;

Ma, Yan-Qing ;

Podrez, Eugene A. ;

Tosi, Michael ;

Lennon, Donald P. ;

Caplan, Arnold I. ;

Shurin, Susan B. ;

Plow, Edward F. ;

Byzova, Tatiana V. .

NATURE MEDICINE, 2009, 15 (03) :313-318

[8] Kindlin-3 is essential for integrin activation and platelet aggregation [J].

Moser, Markus ;

Nieswandt, Bernhard ;

Ussar, Siegfried ;

Pozgajova, Miroslava ;

Faessler, Reinhard .

NATURE MEDICINE, 2008, 14 (03) :325-330

[9] Kindlin-3 is required for β2 integrin-mediated leukocyte adhesion to endothelial cells [J].

Moser, Markus ;

Bauer, Martina ;

Schmid, Stephan ;

Ruppert, Raphael ;

Schmidt, Sarah ;

Sixt, Michael ;

Wang, Hao-Ven ;

Sperandio, Markus ;

Faessler, Reinhard .

NATURE MEDICINE, 2009, 15 (03) :300-305

[10] A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets [J].

Pasvolsky, Ronit ;

Feigelson, Sara W. ;

Kilic, Sara Sebnem ;

Simon, Amos J. ;

Tal-Lapidot, Guy ;

Grabovsky, Valentin ;

Crittenden, Jill R. ;

Amariglio, Ninette ;

Safran, Michal ;

Graybiel, Ann M. ;

Rechavi, Gideon ;

Ben-Dor, Shifra ;

Etzioni, Amos ;

Alon, Ronen .

JOURNAL OF EXPERIMENTAL MEDICINE, 2007, 204 (07) :1571-1582

← 1 2 →