Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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Wnt family member 10A(WNT10A) Wnt family member 10A(WNT10A) Related Genes Homo sapiens
GENERIF_SUMMARY c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in an autosomal recessive ectodermal dysplasia, mantle cell lymphoma highly and consistently expressed Wnt3 and Wnt10., The first inherited missense mutation in WNT10A with associated ectodermal features, is reported., Study reports on 12 patients, from 11 unrelated families, with ectodermal dysplasia caused by five previously undescribed WNT10A mutations, Results demonstrated significant up-regulation of WNT-3, WNT-4, WNT-5B, WNT-7B, WNT-9A, WNT-10A, and WNT-16B in patients with CLL compared to normal subjects., patients harboring WNT10A mutations displayed distinctive clinical features (marked dental phenotype, no facial dysmorphism), Mutations in the WNT10A gene are associated with ectodermal dysplasia presenting as palmoplantar keratoderma in two families., WNT10A may be a novel angio/stromagenic growth factor, Case Reports, We observed a marginally significant interaction between WNT10 rs10177996 (intron 1) and an individual's proportion of calories from saturated fat., In a panel of 34 patients with isolated hypodontia, the candidate gene WNT10A and the genes MSX1, PAX9, IRF6 and AXIN2 have been sequenced. WNT10A mutations were identified in 56% of the cases with non-syndromic hypodontia., WNT10A acts as an autocrine oncogene both in renal cell carcinoma carcinogenesis and progression by activating WNT/beta-catenin signaling., the expression level of Wnt10a is higher in endometrioid carcinoma than in non-endometrioid subtypes; however, the underlying mechanism remains unclear., Nine pathogenic mutations within the coding region of the WNT10A gene were identified in 26 out of 42 (62%) Polish patients with non-syndromic tooth agenesis., Expression studies in human hair follicle tissue suggests that WNT10A has a functional role in androgenetic alopecia etiology., Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia., WNT10A variants were associated with non-syndromic tooth agenesis from mild to severe tooth agenesis, and the more severe tooth agenesis, the stronger association., Our study has demonstrated for the first time that agenesis of the maxillary permanent canines is a distinct entity, associated with mutations in WNT10A., WNT10A and EDA digenic mutations could result in oligodontia and syndromic tooth agenesis in the Chinese population. Moreover, our results will greatly expand the genotypic spectrum of tooth agenesis., WNT10A mutations account for (1/4) of population-based isolated oligodontia and show phenotypic correlations., Barrel-shaped mandibular incisors and severe hypodontia appear to be associated with homozygous or compound heterozygous mutations of WNT10A., involvement of PAX9, EDA, SPRY2, SPRY4, and WNT10A as risk factors for MLIA. uncovered 3 strong synergistic interactions between MLIA liability and MSX1-TGFA, AXIN2-TGFA, and SPRY2-SPRY4 gene pairs. 1st evidence of sprouty genes in MLIA susceptibility., Patients with bi-allelic WNT10A mutations have severe tooth agenesis., The novel c.-14_7delinsC mutation might be the etiological variant of the WNT10A gene responsible for the permanent tooth agenesis in the Egyptian family., transmission disequilibrium test showed transmitted disequilibrium in C392T. we found an association between the C392T variant and nonsyndromic oral clefts., WNT10A may induce kidney fibrosis and associate with kidney dysfunction in acute interstitial nephritis., WNT10A promotes the proliferation of DPCs and negatively regulates their odontoblastic differentiation., p.Arg113Cys, p.Phe228Ile, newly identified p.Arg171Leu may represent aetiological mutations underlying MLIA w/associated dental anomalies, implicating coding variants in WNT10A gene, this study demonstrated that common variations in WNT10A have pleiotropic effects on the morphology of ectodermal appendages., High WNT10A expression promotes an invasive and self-renewing phenotype in esophageal squamous cell carcinoma, WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness,
OMIM_DISEASE Tooth agenesis, selective, 4, Schopf-Schulz-Passarge syndrome, Odontoonychodermal dysplasia,
SP_COMMENT disease:Defects in WNT10A are the cause of odonto-onycho-dermal dysplasia (OODD) [MIM:257980]. OODD is a rare autosomal recessive ectodermal dysplasia in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin., function:Ligand for members of the frizzled family of seven transmembrane receptors., function:Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters., similarity:Belongs to the Wnt family.,