Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
about
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratodermaOnset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophyA mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH)Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutationsHuman keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Gene therapy and dermatology: more than just skin deep.The molecular bases for the palmoplantar keratodermas.Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.Ectodermal dysplasias: not only 'skin' deep.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.Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.The functional diversity of epidermal keratins revealed by the partial rescue of the keratin 14 null phenotype by keratin 16.Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress.The keratin 16 null phenotype is modestly impacted by genetic strain background in mice.Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.A new KRT16 mutation associated with a phenotype of pachyonychia congenita.Disorders of KeratinizationNovel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1
P2860
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P2860
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
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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
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name
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@ast
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@en
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@en-gb
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@nl
type
label
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@ast
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@en
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@en-gb
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@nl
prefLabel
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@ast
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@en
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@en-gb
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@nl
P2093
P356
P1476
Novel mutations in keratin 16 ...... oderma (NEPPK) in two families
@en
P2093
H A Navsaria
H P Stevens
M K Shamsher
P E Purkis
R C Ratnavel
S Gschmeissner
W A Griffiths
W H McLean
P304
P356
10.1093/HMG/4.10.1875
P407
P577
1995-10-01T00:00:00Z