| Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia. | Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia.
Williams R, Jobling S, Sims AH, Mou C, Wilkinson L, Collu GM, Streuli CH, Gilmore AP, Headon DJ, Brennan K., Free PMC Article | 07/26/2024 |
| Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-kappaB signaling in keratinocyte. | Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-κB signaling in keratinocyte.
Fang Z, Wang Y, Huang B, Chen X, Jiang R, Yin M., Free PMC Article | 09/28/2023 |
| Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity. | Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
Yagi S, Yasuno S, Ansai O, Hayashi R, Shimomura Y. | 02/22/2023 |
| A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics. | A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics.
Zhao Z, Zhang T, Li T, Ye Y, Feng C, Wang H, Zhang X. | 01/21/2023 |
| Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations. | Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Ahmed HA, El-Kamah GY, Rabie E, Mostafa MI, Abouzaid MR, Hassib NF, Mehrez MI, Abdel-Kader MA, Mohsen YH, Zada SK, Amr KS, Sayed ISM., Free PMC Article | 02/12/2022 |
| The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system. | The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system.
Kataoka K, Fujita H, Isa M, Gotoh S, Arasaki A, Ishida H, Kimura R., Free PMC Article | 02/12/2022 |
| A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family. | A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
Zhang H, Kong X, Ren J, Yuan S, Liu C, Hou Y, Liu Y, Meng L, Zhang G, Du Q, Shen W., Free PMC Article | 02/5/2022 |
| Association of EDARV370A with breast density and metabolic syndrome in Latinos. | Association of EDARV370A with breast density and metabolic syndrome in Latinos.
Coletta DK, Hlusko LJ, Scott GR, Garcia LA, Vachon CM, Norman AD, Funk JL, Shaibi GQ, Hernandez V, De Filippis E, Mandarino LJ., Free PMC Article | 01/8/2022 |
| Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia. | Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Zhang L, Yu M, Wong SW, Qu H, Cai T, Liu Y, Liu H, Fan Z, Zheng J, Zhou Y, Feng H, Han D. | 11/13/2021 |
| Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis. | Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
Andreoni F, Sgattoni C, Bencardino D, Simonetti O, Forabosco A, Magnani M., Free PMC Article | 08/7/2021 |
| Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families. | Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
Khan SA, Rukan A, Ullah A, Bibi N, Humayun M, Ullah W, Raza R, Muhammad N, Ahmad W, Khan S, E-Kalsoom U. | 07/24/2021 |
| Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia. | Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia.
Riddell J, Basu Mallick C, Jacobs GS, Schoenebeck JJ, Headon DJ., Free PMC Article | 06/5/2021 |
| Novel EDAR mutation in tooth agenesis and variable associated features. | Novel EDAR mutation in tooth agenesis and variable associated features.
Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S. | 04/3/2021 |
| study conducted to date in the Spanish population affected by ED. The EDA, EDAR, EDARADD and WNT10A genes constitute the molecular basis in 70.8% of patients with a 74.6% yield in Hypohidrotic ectodermal dysplasia and 44.4% in non-syndromic tooth agenesis. | EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Barreda-Sánchez M, Rodriguez-Peña L, Martínez-Menchon MT, Frías-Iniesta J, Sánchez-Pedreño P, Carbonell-Meseguer P, Glover-López G, Guillén-Navarro E, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)., Free PMC Article | 08/1/2020 |
| The identification of the same homozygous mutation segregating with disease in two different families supports the important role of the gene in the development of the disorder and this may contribute to novel approaches, prenatal diagnosis and genetic counseling of families with EDAR related disorders. | A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
Sadia, Foo JN, Khor CC, Jelani M, Ali G. | 07/18/2020 |
| Authors report an unexpected pro-apoptotic activity of EDAR when unbound to its ligand Eda-A1, which is independent of NF-kappaB pathway. Contrarily to other death receptors, EDAR does recruit caspase-8 to trigger apoptosis but solely upon ligand withdrawal, thereby behaving as the so-called dependence receptors. | The Ectodysplasin receptor EDAR acts as a tumor suppressor in melanoma by conditionally inducing cell death.
Vial J, Royet A, Cassier P, Tortereau A, Dinvaut S, Maillet D, Gratadou-Hupon L, Creveaux M, Sadier A, Tondeur G, Léon S, Depaepe L, Pantalacci S, de la Fouchardière A, Micheau O, Dalle S, Laudet V, Mehlen P, Castets M., Free PMC Article | 06/6/2020 |
| The p.Trp434Gly substitution of EDAR might be a loss-of-function alteration that would significantly alter its affinity to EDARADD, and finally, influence the downstream activation of NF-kappa B. | Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.
Parveen A, Khan SA, Mirza MU, Bashir H, Arshad F, Iqbal M, Ahmad W, Wahab A, Fiaz A, Naz S, Ashraf F, Mobeen T, Aziz S, Ahmed SS, Muhammad N, Hassib NF, Mostafa MI, Gaboon NE, Gul R, Khan S, Froeyen M, Shoaib M, Wasif N., Free PMC Article | 03/10/2020 |
| Study in HEK293 cells showed that mutant EDAR completely lost its affinity to EDARADD and suppressed the downstream NFkappa-B activation induced by wild-type EDAR in a dominant-negative manner. Mutant EDAR was capable of binding with the wild-type EDAR, which led to reduced interaction between the wild-type EDAR and EDARADD disclosing, in part, the molecular basis of autosomal dominant hypohidrotic ectodermal dysplasia. | Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.
Okita T, Asano N, Yasuno S, Shimomura Y. | 11/2/2019 |
| EDAR was sequenced in hypohidrotic ectodermal dysplasia patients negative for EDA mutations. The EDAR exon 12 variant rs3827760 (T>C, p.V370A) was analysed for a possible additive effect | Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.
Monroy-Jaramillo N, Abad-Flores JD, García-Delgado C, Villaseñor-Domínguez A, Mena-Cedillos C, Toledo-Bahena ME, Valencia-Herrera AM, Sánchez-Boiso A, Akaki-Carreño YI, Del Río Navarro B, Aguirre-Hernández J, López-López M, Cervantes A, Cerbón M, Morán-Barroso VF. | 07/27/2019 |
| The analysis identified significant association (P<0.05 after multiple testing correction) between EDAR V370A mutation and eight facial phenotypes, one chin phenotype and three ear morphology phenotypes. | [The effect of EDARV370A on facial and ear morphologies in Uyghur population].
Li Y, Zhao WT, Li D, Tao XM, Xiong ZY, Liu J, Zhang W, Liu HB, Ji AQ, Tang K, Liu F, Li CX. | 03/30/2019 |
| 10 and five quantitative trait-associated mutations for oxygen saturation (SaO2) and blood platelet count, respectively, are identified at the Edar Receptor (EDAR) locus. rs10865026 and rs3749110 (associated with SaO2 and platelet count, respectively) are functional candidate targets. EDAR has undergone natural selection in recent human history and EDAR variants has an important role in Tibetan high-altitude adaptations. | Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations.
Shao J, Raza MS, Zhuoma B, Zeng C. | 09/29/2018 |
| Results suggested that SNPs in EDAR could be a pathogenic factor for non-syndromic tooth agenesis. Furthermore, EDAR can be regarded as a marker gene for the risk of tooth agenesis. | Association between EDAR Polymorphisms and Non-Syndromic Tooth Agenesis in the Chinese Han Population.
Chen YT, Liu HC, Han D, Liu Y, Feng HL. | 12/16/2017 |
| To evaluate the relative contribution of these variants, we performed a second genome-wide scan in 709 samples from the Uyghur, an admixed population with both eastern and western Eurasian ancestries. In Uyghurs, both EDAR (rs3827760: P = 1.92 x 10(-12)) and TCHH (rs11803731: P = 1.46 x 10(-3)) are associated with hair straightness, but EDAR (OR 0.415) has a greater effect than TCHH (OR 0.575). | Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations.
Wu S, Tan J, Yang Y, Peng Q, Zhang M, Li J, Lu D, Liu Y, Lou H, Feng Q, Lu Y, Guan Y, Zhang Z, Jiao Y, Sabeti P, Krutmann J, Tang K, Jin L, Xu S, Wang S. | 05/20/2017 |
| Partial least square path model confirms EDARV370A systematically affect these weakly related ectodermal-derived characteristics, suggesting the pleiotropic effect of EDARV370A mainly plays roles in early embryo development | EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects.
Peng Q, Li J, Tan J, Yang Y, Zhang M, Wu S, Liu Y, Zhang J, Qin P, Guan Y, Jiao Y, Zhang Z, Sabeti PC, Tang K, Xu S, Jin L, Wang S. | 05/7/2016 |
| Four traits of ear pinna anatomic variation are associated with a functional variant in the EDAR gene, a key regulator of embryonic skin appendage development. | A genome-wide association study identifies multiple loci for variation in human ear morphology.
Adhikari K, Reales G, Smith AJ, Konka E, Palmen J, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Fuentes M, Pizarro M, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Calderón R, Rosique J, Cheeseman M, Bhutta MF, Humphries SE, Gonzalez-José R, Headon D, Balding D, Ruiz-Linares A., Free PMC Article | 04/9/2016 |