Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
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Frizzled Receptors in Development and DiseaseFrizzled6 deficiency disrupts the differentiation process of nail developmentRegulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American familyWhole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicansβ-catenin/Tcf-signaling appears to establish the murine ovarian surface epithelium (OSE) and remains active in selected postnatal OSE cells.SERPINB11 frameshift variant associated with novel hoof specific phenotype in Connemara ponies.Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).Angled Growth of the Dental Lamina Is Accompanied by Asymmetrical Expression of the WNT Pathway Receptor Frizzled 6.WNT/Frizzled signalling: receptor-ligand selectivity with focus on FZD-G protein signalling and its physiological relevance: IUPHAR Review 3Genetics of human isolated hereditary nail disorders.Genetics of syndromic and non-syndromic hereditary nail disorders.Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.Molecular genetics and targeted therapy of WNT-related human diseases (Review).Non-canonical WNT/PCP signalling in cancer: Fzd6 takes centre stage.Epithelium-Derived Wnt Ligands Are Essential for Maintenance of Underlying Digit Bone.Agonist-induced dimer dissociation as a macromolecular step in G protein-coupled receptor signaling.The molecular genetic analysis of the expanding pachyonychia congenita case collection.A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.Immunoreactivity of Wnt5a, Fzd2, Fzd6, and Ryk in glioblastoma: evaluative methodology for DAB chromogenic immunostaining.Nails - more than just an ectodermal appendage: the genetics behind isolated nail disorders.FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.A mechanism for differential sorting of the planar cell polarity proteins Frizzled6 and Vangl2 at the trans-Golgi network.
P2860
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P2860
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
description
2011 nî lūn-bûn
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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
@ast
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
@en
type
label
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
@ast
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
@en
prefLabel
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
@ast
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
@en
P2093
P2860
P50
P1476
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia
@en
P2093
Anne-Sophie Fröjmark
Dana Gabrikova
Maria Sobol
Michaela B C Kilander
Miriam Entesarian
Niklas Dahl
Sadia Nawaz
Shahid M Baig
P2860
P304
P356
10.1016/J.AJHG.2011.05.013
P407
P577
2011-06-01T00:00:00Z