Associated Papers
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Kovalskaia VA et al.
Orphanet Journal of Rare Diseases, 2026
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Novel missense mutations in the tumor necrosis factor domain of Ectodysplasin-A cause non-syndromic tooth agenesis in two Chinese families.
Yang C et al.
Archives of Oral Biology, 2026
Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.
Wu Y et al.
Human Genetics, 2024
[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children].
Wang MY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.
Su L et al.
International Journal of Molecular Sciences, 2024
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
Kim MJ et al.
Orphanet Journal of Rare Diseases, 2024
A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.
Zhuang Y et al.
Clinical, Cosmetic and Investigational Dermatology, 2024
Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study.
Yang X et al.
Frontiers in Pediatrics, 2024
A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
Schneider H et al.
International Journal of Molecular Sciences, 2023
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary AK et al.
American Journal of Medical Genetics. Part A, 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.
Ranjan P et al.
Journal of Cellular Biochemistry, 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.
Ahmed HA et al.
Genes, 2021
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
Körber I et al.
British Journal of Clinical Pharmacology, 2020
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.
Hammersen J et al.
Prenatal Diagnosis, 2019
Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.
Zhao K et al.
Oral Diseases, 2019
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Güven Y et al.
Cytogenetic and Genome Research, 2019
Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.
Park JS et al.
Cytogenetic and Genome Research, 2019
A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.
Rahbaran M et al.
Cellular & Molecular Biology Letters, 2019
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.
Monroy-Jaramillo N et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
Wohlfart S et al.
Journal of Human Genetics, 2016
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
Zeng B et al.
Genes, 2016
De novo EDA mutations: Variable expression in two Egyptian families.
Gaczkowska A et al.
Archives of Oral Biology, 2016
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.
Salas-Alanis JC et al.
Annals of Dermatology, 2015
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.
Guazzarotti L et al.
Clinical Genetics, 2015
Deep sequencing of the X chromosome reveals the proliferation history of colorectal adenomas.
De Grassi A et al.
Genome Biology, 2014
[Molecular genetics study of ED1 gene for two X-linked hypohidrotic ectodermal dysplasia families].
Zhu HI et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.
Yin W et al.
Plos One, 2013
Phenotypic findings in Chinese families with X-linked hypohydrotic ectodermal dysplasia.
Yin W et al.
Archives of Oral Biology, 2012
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
Bashyam MD et al.
The British Journal of Dermatology, 2012
Molecular evidence for the role of X-chromosome inactivation in linear presentation of X-linked hypohidrotic ectodermal dysplasia.
Pavlovsky M et al.
Clinical and Experimental Dermatology, 2012
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F et al.
Clinical Genetics, 2010
Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.
Khabour OF et al.
Genetics and Molecular Research : Gmr, 2010
Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds.
Fan H et al.
European Journal of Oral Sciences, 2008
[Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia].
Fan HL et al.
Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2007
Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.
Hashiguchi T et al.
Experimental Dermatology, 2003
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P et al.
The Journal of Biological Chemistry, 2001
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2001
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
Pääkkönen K et al.
Human Mutation, 2001
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
Monreal AW et al.
American Journal of Human Genetics, 1998