A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2
about
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratodermaGenetic disorders of palm skin and nailIdentification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Keratin disorders: from gene to therapyOvercoming functional redundancy to elicit pachyonychia congenita-like nail lesions in transgenic miceHuman keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.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.Differential modulation of keratin expression by sulforaphane occurs via Nrf2-dependent and -independent pathways in skin epithelia.Keratin expression in human tissues and neoplasms.Gene expression profiling in pachyonychia congenita skinOverexpression of cytokeratin 17 is associated with the development of papillary thyroid carcinoma and the presence of lymph node metastasis.Keratins and skin disorders.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.Increased importin 13 activity is associated with the pathogenesis of pterygiumDisorders 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.Inflammatory versus proliferative processes in epidermis. Tumor necrosis factor alpha induces K6b keratin synthesis through a transcriptional complex containing NFkappa B and C/EBPbeta.Keratin 17 is co-expressed with 14-3-3 sigma in oral carcinoma in situ and squamous cell carcinoma and modulates cell proliferation and size but not cell migration.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.Ectodermal Dysplasia: A Case Report.The molecular genetic analysis of the expanding pachyonychia congenita case collection.Keratin expression in the normal nail unit: markers of regional differentiation.A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex.Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts.Hereditary 'white nails': a genetic and structural study.Can skin disease cause neuropathic pain? A study in pachyonychia congenita.Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.Disorders of KeratinizationEpidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motifNovel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1
P2860
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P2860
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@ast
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@en
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@en-gb
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@nl
type
label
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@ast
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@en
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@en-gb
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@nl
prefLabel
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@ast
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@en
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@en-gb
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@nl
P2093
P356
P1476
A mutation in human keratin K6 ...... pachyonychia congenita type 2
@en
P2093
C M Coleman
H van Goor
M F Jonkman
S P Covello
P304
P356
10.1093/HMG/7.7.1143
P407
P50
P577
1998-07-01T00:00:00Z