| Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. | |
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MedLine Citation:
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PMID: 19945623 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Maria-Anna M A D'Souza; Roy M Kimble; James R McMillan |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Dermatologic clinics Volume: 28 ISSN: 1558-0520 ISO Abbreviation: Dermatol Clin Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2009-11-30 Completed Date: 2010-02-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8300886 Medline TA: Dermatol Clin Country: United States |
Other Details:
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Languages: eng Pagination: 115-8 Citation Subset: IM |
Affiliation:
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Children's Centre for Burns Research, The University of Queensland, Queensland Children's Medical Research Institute, L/4 RCH Foundation Building, Herston, Brisbane, Queensland 4029, Australia. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Disease Progression Epidermis / pathology Epidermolysis Bullosa / genetics*, pathology* Humans Membrane Proteins / genetics*, physiology* Neoplasm Proteins / genetics*, physiology* Skin Neoplasms / genetics, pathology Syndrome* |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/FERMT1 protein, human; 0/Membrane Proteins; 0/Neoplasm Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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