The kindlin family: functions, signaling properties and implications for human disease.
Martinsried, Germany. In J Cell Sci, Feb 2016
Mutations in the KINDLIN-1 (also known as FERMT1) gene cause Kindler syndrome (KS) - in which mainly skin and intestine are affected, whereas mutations in the KINDLIN-3 (also known as FERMT3) gene cause leukocyte adhesion deficiency type III (LAD III), which is characterized by impaired extravasation of blood effector cells and severe, spontaneous bleedings.
Kindlin-3 in the immune system.
Helsinki, Finland. In Am J Clin Exp Immunol, 2013
In contrast to kindlin-1 and kindlin-2 proteins, kindlin-3 is expressed mainly in the hematopoietic system.
Lessons from rare maladies: leukocyte adhesion deficiency syndromes.
Salt Lake City, United States. In Curr Opin Hematol, 2013
LAD-III, which presents with bleeding similar to that in Glanzmann thrombasthenia and platelet dysfunction in addition to impaired leukocyte adhesion, is now known to be due to absence of KINDLIN-3, a cytoplasmic protein that acts cooperatively with TALIN-1 in activating β(1), β(2), and β(3) integrins.