A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

Item
http://www.wikidata.org/entity/Q34667379
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texturePachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.Steatocystoma multiplex.Loss of FOXA1 Drives Sexually Dimorphic Changes in Urothelial Differentiation and Is an Independent Predictor of Poor Prognosis in Bladder Cancer.Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.The autoimmune regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeFirst case of pachyonychia congenita in the Czech Republic.Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.A new KRT16 mutation associated with a phenotype of pachyonychia congenita.Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.Disorders of Keratinization
P2860

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

Item
http://www.wikidata.org/entity/Q34667379
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@ast
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@en
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@nl
type
label
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@ast
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@en
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@nl
prefLabel
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@ast
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@en
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
@en
P2093
P304
P31
P356
10.1016/J.JDERMSCI.2007.07.003
P433
P478
P50
P577
P5875
P698