Keratin 16 and keratin 17 mutations cause pachyonychia congenita
about
Demonstration of the pathogenic effect of point mutated keratin 9 in vivoMutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophyMutation of human keratin 18 in association with cryptogenic cirrhosisOnset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16Genetic disorders of palm skin and nailIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscleOnset of keratin 17 expression coincides with the definition of major epithelial lineages during skin developmentKeratin disorders: from gene to therapyEpidermal transglutaminase (TGase 3) is required for proper hair development, but not the formation of the epidermal barrierCloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoformsA novel mutation in the keratin 13 gene causing oral white sponge nevusMutation of a type II keratin gene (K6a) in pachyonychia congenitaSusceptibility to hepatotoxicity in transgenic mice that express a dominant-negative human keratin 18 mutantA new mutation Rim3 resembling Re(den) is mapped close to retinoic acid receptor alpha (Rara) gene on mouse chromosome 11A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH)Overcoming functional redundancy to elicit pachyonychia congenita-like nail lesions in transgenic micecDNA cloning, expression, and assembly characteristics of mouse keratin 16.Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Gene therapy and dermatology: more than just skin deep.Digital gene expression tag profiling of bat digits provides robust candidates contributing to wing formation.The molecular bases for the palmoplantar keratodermas.Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Ectodermal dysplasias: not only 'skin' deep.Induction of disease-associated keratin 16 gene expression by epidermal growth factor is regulated through cooperation of transcription factors Sp1 and c-Jun.Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.The genetics of human skin disease.Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.Human keratin diseases: hereditary fragility of specific epithelial tissues.Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers.Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.The human keratins: biology and pathology.Keratin gene mutations in disorders of human skin and its appendages.Gene expression profiling in pachyonychia congenita skinType I keratin 17 protein is phosphorylated on serine 44 by p90 ribosomal protein S6 kinase 1 (RSK1) in a growth- and stress-dependent fashion.Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.Keratins and skin disorders.Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.
P2860
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P2860
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
name
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@ast
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@en
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@en-gb
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@nl
type
label
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@ast
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@en
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@en-gb
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@nl
prefLabel
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@ast
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@en
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@en-gb
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@nl
P2093
P2860
P356
P1433
P1476
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
@en
P2093
O Swensson
P J Dopping-Hepenstal
S M Morley
W A Griffiths
W H McLean
P2860
P2888
P356
10.1038/NG0395-273
P407
P577
1995-03-01T00:00:00Z
P6179
1014351591