Recombinant Human Ectodysplasin-A (EDA), partial

1. Mutations were identified in all seven families, including four previously reported missense mutations (p.M1T, p.R156C, p.G299S, and p.A349T) and three novel mutations; missense mutation (p.Q358 L), indel (P228Tfs*52), as well as a large deletion. PMID: 30117778
2. A novel functional skipping-splicing EDA mutation was considered to be the cause of HED in the two pedigrees reported here. PMID: 29676859
3. Case Report: EDA mutation causing hypohidrotic ectodermal dysplasia with hyperplasia of the sebaceous glands in a Chinese patient. PMID: 28498389
4. This is the first analysis of the role of Eda in the root, showing a direct role for this pathway during postnatal mouse development, and it suggests that changes in proliferation and angle of HERS may underlie taurodontism in a range of syndromes. PMID: 28813629
5. Data suggest that EDA is highly expressed in meibomian glands and is detectible in human tears but not serum; EDA protein is secreted from meibomian glands and promotes corneal epithelial cell proliferation through regulation of EGFR signaling pathway. (EGFR = epidermal growth factor receptor) PMID: 28655773
6. EDA is an important candidate gene for two developmental diseases sharing the common feature of the congenital lack of teeth. In addition, these results can support the hypothesis that X-linked HED and EDA-related NTA are the same disease with different degrees of severity. PMID: 27054699
7. EDA-A2 and its receptor XEDAR are overexpressed in epithelial cells of salivary glands in Sjogren's syndrome patients, in comparison with healthy individuals. The EDA-A2/XEDAR system in these cells is involved in the induction of apoptosis via CASP3 activation. PMID: 26659383
8. Based on a computerized protein structure analysis, we suggest that the change p.Arg289His in EDA impairs protein stabilization and thus might possibly be involved in the development of oligodontia concomitant with a mild ED phenotype. PMID: 26753551
9. we identified a novel and three reported EDA missense mutations in four of six patients with X-linked hypohidrotic ectodermal dysplasia. Missense mutations and the mutations affecting the tumor necrosis factor homology domain were correlated with fewer missing teeth. PMID: 26411740
10. hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family PMID: 25438642
11. Our findings indicate that a novel mutation (c.878T>G) of EDA is associated with XLHED and adds to the repertoire of EDA mutations. PMID: 26634545
12. We found a novel missense mutation in exon 1 of the EDA1 gene in a putative Mayan family from Mexico with XL-HED. PMID: 25626993
13. A novel missense mutation in the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. PMID: 25846883
14. novel nonsense mutation in Chinese family PMID: 25296636
15. dentified a novel deletion mutation located in exon 1 which if expressed would produce a highly truncated protein in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia PMID: 24985548
16. novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis PMID: 25203534
17. novel one-nucleotide deletion mutation (c.855delG) of EDA in exon 8 which caused premature termination of the polypeptide at amino acid 307 was confirmed PMID: 23635427
18. hemizygous nonsense mutation c.739C>T (p.Q247X) in exon 4 associated with x-linked hypohidrotic ectodermal dysplasia PMID: 24503206
19. 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. PMID: 24312213
20. 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. PMID: 24554542
21. The mutation described resulted in a deletion of the highly conserved TNF homology sequence responsible for binding to EDA1R. PMID: 22835214
22. Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene. In a Japanese boy, 3 .months old PMID: 23293949
23. The deletion and missense mutation in ED1 gene is associated with X-linked hypohidrotic ectodermal dysplasia families. PMID: 23926003
24. most of these Chinese XLHED carriers' have hypermethylated EDA promoter. PMID: 23626789
25. Identification of a novel c.822 G>T mutation of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia. PMID: 23744312
26. identified novel missense mutation (c.779 T>G) in Nonsyndromic Hypodontia. mutation results in Ile260Ser substitution in the TNF homology domain. alteration may induce conformational change in hydrophobic center of TNF homology domain. PMID: 23625373
27. identified heterozygous nonsense mutation c.874G>T (p.Glu292X) in TNF homology domain of EDA in all affected females. phenotype variability in heterozygous female carriers may occur due to differential pattern of X-chromosome inactivation PMID: 23603338
28. Various mutations of ED1 gene were detected. PMID: 22875504
29. The finding that EDAR370A attenuates hypohidrotic ectodermal dysplasia symptoms provides the first in vivo evidence that allele is a more potent signalling molecule than EDAR370V. PMID: 21916884
30. we report a novel mutation of the EDA gene identified in a Korean family with X-linked hypohidrotic ectodermal dysplasia. PMID: 22004506
31. Direct DNA sequencing of the whole coding region of EDA revealed a novel missense mutation, p.Leu354Pro in a patient affected with XLHED. PMID: 22008666
32. EDA1 gene was the most common hypohidrotic/anhidrotic ectodermal dysplasia disease-causing gene PMID: 20979233
33. there exists a correlation between the phenotypes and genotypes of XLHED and NSH subjects harboring EDA mutations PMID: 21457804
34. Systematic mapping of EDA mutations together with the analysis of objective clinical data may help to distinguish functionally crucial mutations from those allowing residual activity of the gene product. PMID: 21357618
35. association in dental crowding in the Hong Kong Chinese population PMID: 21724072
36. Direct sequencing of the EDA-A1 gene in affected individuals of the 3 families revealed the same missense mutation. Microsatellite marker analysis showed a shared haplotype among the affected members of both families, suggesting a common founder mutation. PMID: 20628232
37. This study further confirms the differential effect of the mutations in EDA gene that define the pathogenic basis of X-linked recessive isolated hypodontia. PMID: 21091672
38. Data show that 25 different mutations on EDA and EDAR genes were detected in HED patients. PMID: 20236127
39. A crucial role of the EDA-A2/ectodysplasin A2 (XEDAR) interaction is revealed in the p53-signaling pathway. PMID: 20501644
40. analysis of Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia [case report] PMID: 20486090
41. EDA has been identified as a nonsyndromic tooth agenesis gene, X-linked. PMID: 19816326
42. An in vitro functional analysis was performed of six selective tooth agenesis-causing EDA mutations (one novel and five known) that are located in the C-terminal tumor necrosis factor homology domain of the protein. PMID: 19623212
43. The structure of the EDA1 gene in a patient with anhidrotic ectodermal dysplasia PMID: 12673367
44. The ED1 gene was identified as a responsive gene for X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA. PMID: 12920369
45. identified ED1 mutations including three novel mutations by sequencing genomic DNAs from eight unrelated Japanese X-linked hypohidrotic ectodermal dysplasia families PMID: 12930312
46. point mutation (G1149A) in exon 8 changes codon 291 from glycine to arginine causing X-linked hypohidrotic ectodermal dysplasia PMID: 15663448
47. isoforms of EDA-A5 and A5',activated NF-kappaB through receptors EDAR and XEDAR PMID: 16423472
48. EDA signaling has its biological significance in inducing development and morphogenesis of sweat glands and in maintaining physiological function of skin. PMID: 16752854
49. EDA signaling has a role in skin appendage development [review] PMID: 17102627
50. An amino acid substitution in ectodysplasin A is associated with X-linked dominant incisor hypodontia. PMID: 17256800

Show More

Hide All

HGNC: 3157

OMIM: 300451

KEGG: hsa:1896

STRING: 9606.ENSP00000363680

UniGene: Hs.105407