Kindler Syndrome Pathogenesis and Fermitin Family Homologue 1 (Kindlin-1) Function

Dermatologic Clinics

Volumn 28, Issue 1, 2010, Pages 115-118

  D'Souza, Maria Anna M A ^a   Kimble, Roy M ^a   McMillan, James R ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Fermitin family homologue 1 (FFH1); Focal contact; Genodermatosis; Keratinocyte adhesion; Keratinocyte proliferation; Signaling; Ultrastructure

Indexed keywords

BINDING PROTEIN; FERMITIN FAMILY HOMOLOGUE 1 PROTEIN; UNCLASSIFIED DRUG;

BASEMENT MEMBRANE; BLISTER; CANCER RISK; CELL ADHESION; CLINICAL FEATURE; CYTOSKELETON; EXTRACELLULAR MATRIX; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENODERMATOSIS; HUMAN; KERATINOCYTE; KINDLER SYNDROME; PATHOGENESIS; POIKILODERMA; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SKIN FRAGILITY;

DISEASE PROGRESSION; EPIDERMIS; EPIDERMOLYSIS BULLOSA; HUMANS; MEMBRANE PROTEINS; NEOPLASM PROTEINS; SKIN NEOPLASMS; SYNDROME;

EID: 70450225549     PISSN: 07338635     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.det.2009.10.012     Document Type: Review

References (31)

1. Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 66 3 (1954) 104-111
2. Larjava H., Plow E.F., and Wu C. Kindlins: essential regulators of integrin signalling and cell-matrix adhesion. EMBO Rep 9 12 (2008) 1203-1208
3. Calderwood D.A. Talin controls integrin activation. Biochem Soc Trans 32 Pt3 (2004) 434-437
4. Kloeker S., Major M.B., Calderwood D.A., et al. The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. J Biol Chem 279 8 (2004) 6824-6833
5. Ussar S., Moser M., Widmaier M., et al. Loss of kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction. PLoS Genet 4 12 (2008) e1000289
6. Lai-Cheong J.E., Ussar S., Arita K., et al. Colocalization of kindlin-1 kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol 128 9 (2008) 2156-2165
7. Harburger D.S., Bouaouina M., and Calderwood D.A. Kindlin-1 and -2 directly bind the C-terminal region of beta integrin cytoplasmic tails and exert integrin-specific activation effects. J Biol Chem 284 17 (2009) 11485-11497
8. Dowling J.J., Gibbs E., Russell M., et al. Kindlin-2 is an essential component of intercalated discs and is required for vertebrate cardiac structure and function. Circ Res 102 4 (2008) 423-431
9. Kruger M., Moser M., Ussar S., et al. SILAC mouse for quantitative proteomics uncovers kindlin-3 as an essential factor for red blood cell function. Cell 134 2 (2008) 353-364
10. Montanez E., Ussar S., Schifferer M., et al. Kindlin-2 controls bidirectional signaling of integrins. Genes Dev 22 10 (2008) 1325-1330
11. Mory A., Feigelson S.W., Yarali N., et al. Kindlin-3: a new gene involved in the pathogenesis of LAD-III. Blood 112 6 (2008) 2591
12. Moser M., Nieswandt B., Ussar S., et al. Kindlin-3 is essential for integrin activation and platelet aggregation. Nat Med 14 3 (2008) 325-330
13. Lahn M., Kloeker S., and Berry B.S. TGF-beta inhibitors for the treatment of cancer. Expert Opin Investig Drugs 14 6 (2005) 629-643
14. Ussar S., Wang H.V., Linder S., et al. The Kindlins: subcellular localization and expression during murine development. Exp Cell Res 312 16 (2006) 3142-3151
15. Yasukawa K., Sato-Matsumura K.C., McMillan J.R., et al. Exclusion of COL7A1 mutation in Kindler syndrome. J Am Acad Dermatol 46 3 (2002) 447-450
16. Jobard F., Bouadjar B., Caux F., et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 12 8 (2003) 925-935
17. Siegel D.H., Ashton G.H., Penagos H.G., et al. Loss of kindlin-1, a human homolog of the caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 73 1 (2003) 174-187
18. Burch J.M., Fassihi H., Jones C.A., et al. Kindler syndrome: a new mutation and new diagnostic possibilities. Arch Dermatol 142 5 (2006) 620-624
19. Has C., Wessagowit V., Pascucci M., et al. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 126 8 (2006) 1776-1783
20. White S.J., and McLean W.H. Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. J Dermatol Sci 38 3 (2005) 169-175
21. Sethuraman G., Fassihi H., Ashton G.H., et al. An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene. Clin Exp Dermatol 30 3 (2005) 286-288
22. Ashton G.H., McLean W.H., South A.P., et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol 122 1 (2004) 78-83
23. Ashton G.H. Kindler syndrome. Clin Exp Dermatol 29 2 (2004) 116-121
24. Lanschuetzer C.M., Muss W.H., Emberger M., et al. Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder. J Cutan Pathol 30 9 (2003) 553-560
25. Periodontal disease linked with Kindler syndrome. J Am Dent Assoc 134 4 (2003) 424-428
26. Szczerba S.M., Yokoo K.M., and Bauer B.S. Release of acquired syndactylies in Kindler syndrome. Ann Plast Surg 33 4 (1994) 434-438
27. Forman A.B., Prendiville J.S., Esterly N.B., et al. Kindler syndrome: report of two cases and review of the literature. Pediatr Dermatol 6 2 (1989) 91-101
28. Sadler E., Klausegger A., Muss W., et al. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. Arch Dermatol 142 12 (2006) 1619-1624
29. Hovnanian A., Blanchet Bardon C., and de Prost Y. Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature. Pediatr Dermatol 6 2 (2008) 82-90
30. Ghaninejad H., Balighi K., Ehsani A., et al. Kindler's syndrome: the first report of four siblings with new findings. Acta Med Iran 42 2 (2004) 146-148
31. Nofal E., Assaf M., and Elmosalamy K. Kindler syndrome: a study of five Egyptian cases with evaluation of severity. Int J Dermatol 47 (2008) 658-662