Mutation of a type II keratin gene (K6a) in pachyonychia congenita
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Mutation of human keratin 18 in association with cryptogenic cirrhosisHigh-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked regionA novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophyGenetic disorders of palm skin and nailIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Keratin disorders: from gene to therapyA novel mutation in the keratin 13 gene causing oral white sponge nevusSusceptibility to hepatotoxicity in transgenic mice that express a dominant-negative human keratin 18 mutantHuman keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Gene therapy and dermatology: more than just skin deep.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.Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.The genetics of human skin disease.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.Keratin gene mutations in disorders of human skin and its appendages.Gene expression profiling in pachyonychia congenita skinKeratins and skin disorders.Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant.14-3-3 proteins associate with phosphorylated simple epithelial keratins during cell cycle progression and act as a solubility cofactor.The functional diversity of epidermal keratins revealed by the partial rescue of the keratin 14 null phenotype by keratin 16.Introducing a null mutation in the mouse K6alpha and K6beta genes reveals their essential structural role in the oral mucosaDiscovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.Hedgehog signaling, keratin 6 induction, and sebaceous gland morphogenesis: implications for pachyonychia congenita and related conditionsTherapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita."IF-pathies": a broad spectrum of intermediate filament-associated diseases.Gene Expression Architecture of Mouse Dorsal and Tail Skin Reveals Functional Differences in Inflammation and Cancer.Inflammatory versus proliferative processes in epidermis. Tumor necrosis factor alpha induces K6b keratin synthesis through a transcriptional complex containing NFkappa B and C/EBPbeta.Epidermal growth factor-induced modulation of cytokeratin expression levels influences the morphological phenotype of head and neck squamous cell carcinoma cells.Severe abnormalities in the oral mucosa induced by suprabasal expression of epidermal keratin K10 in transgenic mice.Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.Ectodermal Dysplasia: A Case Report.A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.The inherited palmoplantar keratodermas.Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.Profiling substrates of protein arginine N-methyltransferase 3 with S-adenosyl-L-methionine analogues.
P2860
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P2860
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
description
1995 nî lūn-bûn
@nan
1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@ast
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@en
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@nl
type
label
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@ast
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@en
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@nl
prefLabel
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@ast
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@en
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@nl
P2093
P2860
P356
P1433
P1476
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
@en
P2093
J A Rothnagel
P E Bowden
R J Turner
P2860
P2888
P356
10.1038/NG0795-363
P407
P577
1995-07-01T00:00:00Z