Kindler syndrome: A focal adhesion genodermatosis

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dc.contributor.authorLai-Cheong, Jelai E.
dc.contributor.authorTanaka, Akio
dc.contributor.authorHawche, G.
dc.contributor.authorEmanuel, Patrick O.M.
dc.contributor.authorMaari, Catherine H.
dc.contributor.authorTaşkesen, Mustafa
dc.contributor.authorAkdeniz, Sedat
dc.date.accessioned2024-04-24T17:56:28Z
dc.date.available2024-04-24T17:56:28Z
dc.date.issued2009
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractKindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized by trauma-induced blistering, poikiloderma, skin atrophy, mucosal inflammation and varying degrees of photosensitivity. Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities. The molecular pathology of Kindler syndrome involves loss-of-function mutations in a newly recognized actin cytoskeleton-associated protein, now known as fermitin family homologue 1, encoded by the gene FERMT1. This protein mediates anchorage between the actin cytoskeleton and the extracellular matrix via focal adhesions, and thus the structural pathology differs from other forms of epidermolysis bullosa in which there is a disruption of the keratin intermediate filament-hemidesmosome network and the extracellular matrix. In the skin, fermitin family homologue 1 is mainly expressed in basal keratinocytes and binds to the cytoplasmic tails of ?1 and ?3 integrins as well as to fermitin family homologue 2 and filamin-binding LIM protein 1. It also plays a crucial role in keratinocyte migration, proliferation and adhesion. In this report, we review the clinical, cellular and molecular pathology of Kindler syndrome and discuss the role of fermitin family homologue 1 in keratinocyte biology.en_US
dc.identifier.citationLai-Cheong, J. E., Tanaka, A., Hawche, G., Emanuel, P. O. M., Maari, C. H., Taşkesen, M. ve diğerleri. (2009). Kindler syndrome: A focal adhesion genodermatosis. British Journal of Dermatology, 160(2), 233-242.
dc.identifier.doi10.1111/j.1365-2133.2008.08976.x
dc.identifier.endpage242en_US
dc.identifier.issn0007-0963
dc.identifier.issue2en_US
dc.identifier.pmid19120339
dc.identifier.scopus2-s2.0-58349116039
dc.identifier.scopusqualityQ1
dc.identifier.startpage233en_US
dc.identifier.urihttps://doi.org/10.1111/j.1365-2133.2008.08976.x
dc.identifier.urihttps://hdl.handle.net/11468/23531
dc.identifier.volume160en_US
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.relation.ispartofBritish Journal of Dermatology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectActinen_US
dc.subjectBlisteringen_US
dc.subjectFermitinen_US
dc.subjectFermt1en_US
dc.subjectFocal adhesionen_US
dc.subjectInherited skin diseaseen_US
dc.subjectPoikilodermaen_US
dc.titleKindler syndrome: A focal adhesion genodermatosisen_US
dc.titleKindler syndrome: A focal adhesion genodermatosis
dc.typeReview Articleen_US

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