Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function

D'Souza, Mama, Kimble, RM and McMillan, JR (2010) Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. Dermatologic Clinics, 28 1: 115-118. doi:10.1016/j.det.2009.10.012

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Author D'Souza, Mama
Kimble, RM
McMillan, JR
Title Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function
Journal name Dermatologic Clinics   Check publisher's open access policy
ISSN 0733-8635
Publication date 2010-01
Year available 2009
Sub-type Article (original research)
DOI 10.1016/j.det.2009.10.012
Volume 28
Issue 1
Start page 115
End page 118
Total pages 4
Place of publication Philadelphia, PA, United States
Publisher W. B. Saunders
Collection year 2011
Language eng
Formatted abstract
Kindler syndrome is caused by genetic defects in the focal contact–associated protein, fermitin family homologue 1 (FFH1), encoded by the gene FERMT1 (known as KIND1). Defects in FFH1 lead to abnormal integrin activation and loss of keratinocyte epidermal adhesion to the underlying basal lamina, disruption in normal cell cytoskeleton within keratinocytes, and altered signaling pathways, leading to increased extracellular matrix production. Null mutations in FERMT1 result in skin blistering from birth and early childhood progressive poikiloderma, mucosal fragility, and increased risk of cancer. The complete range of FFH1 functions in skin and other epithelia has yet to be determined.
© 2010 Published by Elsevier Inc. All rights reserved.
Keyword Genodermatosis
Fermitin family homologue 1 (FFH1)
Focal contact
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Available online 27 November 2009. Issue title Epidermolysis Bullosa: Part I – Pathogenesis and Clinical Features. Edited by Dédée F. Murrell.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 11 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 14 times in Scopus Article | Citations
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Created: Tue, 16 Mar 2010, 19:18:12 EST by Amanda Jones on behalf of Child Health Research Centre