| Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree. | Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.
Zhou Y, Yin B, Shi B, Zheng LW, Jia ZL. | 12/15/2023 |
| Association between Circulating Ectodysplasin A and Diabetic Kidney Disease. | Association between Circulating Ectodysplasin A and Diabetic Kidney Disease.
Deng X, Guo C, Qin H, Zhao L, Li Y, Zhao Z, Li H, Yang L, Wang D, Yuan G., Free PMC Article | 05/15/2023 |
| A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia. | A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.
Agiannitopoulos K, Potska K, Douka A, Gintoni I, Tsaousis GN, Papadopoulou E, Nasioulas G, Yapijakis C. | 04/28/2023 |
| A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability. | A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.
Liu X, Zhao Y, Zhu J., Free PMC Article | 04/14/2023 |
| Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants. | Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K, Huang C, Wan F, Jiang C, Chen J, Li X, Wang F, Wu J, Lei M, Wu Y., Free PMC Article | 02/25/2023 |
| Ectodysplasin-A mRNA in exosomes released from activated hepatic stellate cells stimulates macrophage response. | Ectodysplasin-A mRNA in exosomes released from activated hepatic stellate cells stimulates macrophage response.
Marrero E, Attal N, Nimeri A, McGee RM, Benbow JH, Thompson KJ, Schrum LW, McKillop IH. | 09/24/2022 |
| Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis. | Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis.
Xie W, Zeng B, Li P, Xu D, Yu D, Zhao W. | 06/11/2022 |
| Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India. | Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary AK, Gholse A, Nagarajaram HA, Dalal AB, Gupta N, Dutta AK, Danda S, Gupta R, Sankar HV, Bhavani GS, Girisha KM, Phadke SR, Ranganath P, Bashyam MD. | 04/30/2022 |
| Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia. | Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.
Yu K, Shen Y, Jiang CL, Huang W, Wang F, Wu YQ., Free PMC Article | 04/9/2022 |
| Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach. | Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach.
Ranjan P, Das P. | 04/2/2022 |
| 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 |
| Ectodysplasin A Is Increased in Non-Alcoholic Fatty Liver Disease, But Is Not Associated With Type 2 Diabetes. | Ectodysplasin A Is Increased in Non-Alcoholic Fatty Liver Disease, But Is Not Associated With Type 2 Diabetes.
Bayliss J, Ooi GJ, De Nardo W, Shah YJH, Montgomery MK, McLean C, Kemp W, Roberts SK, Brown WA, Burton PR, Watt MJ., Free PMC Article | 01/15/2022 |
| 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 |
| Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor. | Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor.
Kwack MH, Jun MS, Sung YK, Kim JC, Kim MK. | 02/13/2021 |
| 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 |
| ectodysplasin A aggravates steatosis by striking balance between lipid deposition and elimination; it was a potential biomarker of nonalcoholic fatty liver disease | Circulating ectodysplasin A is a potential biomarker for nonalcoholic fatty liver disease.
Yang J, Zhou W, Zhu J, Wu Y, Xu L, Wang Y, Zhang Q, Yang Y. | 04/4/2020 |
| The missense variant (c.1133C>T p.Thr378Met) has been mapped on the TNF-like domain of EDA and is predicted to change its functional nature. The binding of EDA variants to EDAR alters the recruitment of its adaptor protein, EDARADD, which is crucial in activating the NF-kappaB signaling pathway. | 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 |
| A novel missense mutation p.S305R of EDA gene causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family | A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family.
Liu G, Wang X, Qin M, Sun L, Zhu J. | 12/21/2019 |
| In conclusion, we propose that mutation c.648_683del36 and c.925-2A>G can indeed cause the HED, by destroying the structure and interaction properties of EDA protein. | Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia.
Feng X, Weng C, Wei T, Sun J, Huang F, Yu P, Qi M. | 11/16/2019 |
| Study of a two-generation X-linked hypohidrotic ectodermal dysplasia (HED) family found a novel frameshift mutation (NM_001399.4: c.381_382delinsG, p.Q128Rfs*9) in EDA gene. Proband had typical clinical features of HED and the mother had identical but milder features. Interestingly, some phenotypes of the mother appeared asymmetrically between the right and left side of the body that were not reported in previous studies. | Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.
Shen L, Liu C, Gao M, Li H, Zhang Y, Tian Q, Ni H, Peng P, Zhao R, Hu Z, Gao Y, Xia K, Bo Q, Guo H. | 11/2/2019 |
| Study analyzed two Japanese families with hypohidrotic ectodermal dysplasia and identified two novel mutations in the EDA gene. | Two Japanese families with hypohidrotic ectodermal dysplasia: Phenotypic differences between affected individuals.
Okita T, Yamaguchi M, Asano N, Yasuno S, Kashiwagi K, Shimomura Y. | 08/17/2019 |
| 9 EDA mutations (3 reported previously, 6 novel) were found in 10 Korean X-linked hypohidrotic ectodermal dysplasia patients from 9 families. 2 of the novel mutations caused frameshift in protein synthesis (p.Pro229Profs*51, p.Ala238Leufs*42). 1 was a nonsense mutation (p.Gly73*). The remaining 3 novel missense variants (p.Thr378Lys, p.Val322Ala, p.Val251Met) were predicted to affect protein function. | Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.
Park JS, Ko JM, Chae JH. | 08/10/2019 |
| The new EDA variants expand the mutational pro fi le of hypohidrotic ectodermal dysplasia, and in two patients, a de novo mutation was identi fi ed. | 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 |
| One novel mutation (c.441_442insACTCT) and three reported mutations (c.252delT, c.463C>T, and c.1013C>T) in EDA were identified in families with ectodermal dysplasia. The novel EDA mutation was co-segregated with phenotype. | Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.
Zhao K, Lian M, Zou D, Huang W, Zhou W, Shen Y, Wang F, Wu Y. | 07/6/2019 |
| The EDA mutations of c.878 T > G, c.663-697del and c.587-615del may be responsible for the pathogenesis of autosomal recessive hypohidrotic ectodermal dysplasia in their pedigrees. | Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.
He F, Wang H, Zhang X, Gao Q, Guo F, Chen C., Free PMC Article | 05/25/2019 |