Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
about
GFAP and its role in Alexander diseaseKeratin 17 null mice exhibit age- and strain-dependent alopeciaGenotype-phenotype correlations among pachyonychia congenita patients with K16 mutationsHuman keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.Ectodermal dysplasias: not only 'skin' deep.Keratin gene mutations in disorders of human skin and its appendages.Type I keratin 17 protein is phosphorylated on serine 44 by p90 ribosomal protein S6 kinase 1 (RSK1) in a growth- and stress-dependent fashion.Keratins and skin disorders.Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.Steatocystoma multiplex-a rare genetic disorder: a case report and review of the literatureAcro-osteolysis: a complication of Jadassohn-Lewandowsky syndrome.Insights into the beaded filament of the eye lens.Diseases of epidermal keratins and their linker proteinsHedgehog signaling, keratin 6 induction, and sebaceous gland morphogenesis: implications for pachyonychia congenita and related conditionsKeratins and skin disease.[Testosterone reduces the expression of keratinization-promoting genes in murine Meibomian glands].Apoptosis-induced cleavage of keratin 15 and keratin 17 in a human breast epithelial cell line.Generalized alopecic and cystic dermatosis in a cat: a counterpart to the hairless mouse phenotype or a unique congenital dermatosis?Multiple Asymptomatic Papules on the Back of the Right Side of the Chest.Multiple cream-colored papules over the trunk and neck.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.A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a.Cutaneous Cysts with Nail Dystrophy in a Young Female: A Classical Association.Mapping genotype-phenotype associations of nsSNPs in coiled-coil oligomerization domains of the human proteome.A recurrent mutation in the KRT17 gene responsible for severe steatocystoma multiplex in a large Chinese family.Steatocystoma multiplex with hair shaft abnormalities.Steatocystoma multiplex: keratin 17 - the key player?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.Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features
P2860
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P2860
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին 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
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@ast
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@en
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@nl
type
label
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@ast
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@en
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@nl
prefLabel
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@ast
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@en
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2.
@nl
P2093
P2860
P1476
Keratin 17 mutations cause eit ...... pachyonychia congenita type 2
@en
P2093
J H Sillevis Smitt
M F Jonkman
S P Covello
P2860
P304
P356
10.1046/J.1365-2133.1998.02413.X
P407
P577
1998-09-01T00:00:00Z