Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis

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dc.authorid0000-0001-5024-3623en_US
dc.authorid0000-0001-9589-4091
dc.contributor.authorDüzenli, Selma
dc.contributor.authorRedler, S.
dc.contributor.authorMüller, M.
dc.contributor.authorPolat, Mualla
dc.contributor.authorDoğruer, Dilek
dc.contributor.authorPasternack, S. M.
dc.contributor.authorBetz, R. C.
dc.date.accessioned2021-06-23T19:26:02Z
dc.date.available2021-06-23T19:26:02Z
dc.date.issued2009
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractMarie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of isolated alopecia. The disorder is characterized by the absence or scarcity of scalp hair, eyebrows and eyelashes at birth. Coarse wiry hair begins to grow during childhood, but this is followed by progressive hair loss, which usually begins around puberty. A recent study identified mutations in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the human hairless gene. We investigated three reportedly unrelated Turkish multigeneration families with MUHH. Using direct sequencing of U2HR we were able to identify the c. 2T> A (p. M1K) mutation in one index patient of each family. The mutation cosegregates perfectly with the disease in all members of the families. To our knowledge, this is the first time that a mutation in U2HR has been identified in families from the Middle East. The observation of a common mutation is suggestive of a possible founder effect.en_US
dc.identifier.doi10.1111/j.1365-2230.2009.03644.x
dc.identifier.endpageE956en_US
dc.identifier.issn0307-6938
dc.identifier.issn1365-2230
dc.identifier.issue8en_US
dc.identifier.pmid20055871en_US
dc.identifier.scopus2-s2.0-72549102913en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpageE953en_US
dc.identifier.urihttps://doi.org/10.1111/j.1365-2230.2009.03644.x
dc.identifier.urihttps://hdl.handle.net/20.500.12491/6387
dc.identifier.volume34en_US
dc.identifier.wosWOS:000272526800158en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorDüzenli, Selma
dc.institutionauthorPolat, Mualla
dc.institutionauthorDoğruer, Dilek
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofClinical And Experimental Dermatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGene Mutationen_US
dc.titleIdentification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosisen_US
dc.typeArticleen_US

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