EDAR

Summary

Gene Symbol: EDAR
Description: ectodysplasin A receptor
Alias: ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1, tumor necrosis factor receptor superfamily member EDAR, EDA-A1 receptor, anhidrotic ectodysplasin receptor 1, downless homolog, downless, mouse, homolog of, ectodermal dysplasia receptor, ectodysplasin 1, anhidrotic receptor
Species: human
Products:     EDAR

Top Publications

  1. Koppinen P, Pispa J, Laurikkala J, Thesleff I, Mikkola M. Signaling and subcellular localization of the TNF receptor Edar. Exp Cell Res. 2001;269:180-92 pubmed
    ..b>Edar, encoded by the mouse downless gene and defective in human dominant and recessive forms of autosomal hypohidrotic ..
  2. Headon D, Emmal S, Ferguson B, Tucker A, Justice M, Sharpe P, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001;414:913-6 pubmed
    ..b>Edar is a death domain protein of the TNFR family that is required for the development of hair, teeth and other ..
  3. Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent M. Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat. 2006;27:255-9 pubmed
    ..Autosomal-dominant and -recessive forms occur occasionally and result from mutations in at least two genes: EDAR and EDARADD. These different forms are phenotypically indistinguishable...
  4. Aswegan A, Josephson K, Mowbray R, Pauli R, Spritz R, Williams M. Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am J Med Genet. 1997;72:462-7 pubmed
    ..We reviewed 40 autosomal dominant ectodermal dysplasia syndromes. This family bears some resemblance to a family described by Jorgensen et al. [1987]; however, it appears to represent a disorder that has not been described previously. ..
  5. Monreal A, Ferguson B, Headon D, Street S, Overbeek P, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999;22:366-9 pubmed
    ..Dominant disorders, possibly allelic to the recessive loci, are seen in both species (ED3, Dlslk)...
  6. Azeem Z, Naqvi S, Ansar M, Wali A, Naveed A, Ali G, et al. Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2009;301:625-9 pubmed publisher
    Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability to sweat, and hypodontia...
  7. Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T, et al. A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. Hum Genet. 2008;124:179-85 pubmed publisher
    ..We recently reported that a nonsynonymous SNP in the ectodysplasin A receptor (EDAR 1540T/C) is associated with head hair fiber thickness in an ethnic group in Thailand (Thai-Mai) and an Indonesian ..
  8. Cluzeau C, Hadj Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011;32:70-2 pubmed publisher
    ..Three disease-causing genes have been hitherto identified, namely, (1) EDA1 accounting for X-linked forms, (2) EDAR, and (3) EDARADD, causing both autosomal dominant and recessive forms...
  9. Masojć M, Nassr A, Kim J, Krupa Kurzynowska J, Sohn Y, Szmit M, et al. Saharan green corridors and Middle Pleistocene hominin dispersals across the Eastern Desert, Sudan. J Hum Evol. 2019;130:141-150 pubmed publisher
    ..Stone Age sites far from the Nile Valley in the Eastern Desert (Sudan), referred to as Eastern Desert Atbara River (EDAR). The ∼5 m stratigraphy of the area is divided into three units (Units I-III) bounded by erosion surfaces...

More Information

Publications113 found, 100 shown here

  1. Li Y, Zhao W, Li D, Tao X, Xiong Z, Liu J, et al. EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population. Hum Genet. 2019;: pubmed publisher
    ..47% of sex-, age-, and BMI-adjusted facial phenotype variance. These included EDAR rs3827760, LYPLAL1 rs5781117, PRDM16 rs4648379, PAX3 rs7559271, DKK1 rs1194708, TNFSF12 rs80067372, CACNA2D3 ..
  2. Trejo Remigio D, Jacinto Alemán L, Leyva Huerta E, Navarro Bustos B, Portilla Robertson J. Ectodermal and ectomesenchymal marker expression in primary cell lines of complex and compound odontomas: a pilot study. Minerva Stomatol. 2019;68:132-141 pubmed publisher
    ..MTT, immunocytochemistry and RT-PCR assays of CD34, Sox2, Amel, Ambn, p21, EDAR, Msx1, Msx2, Pax9, RUNX2, BSP, OPN, Barx1 and GAPDH (control) were performed...
  3. Auerswald H, De Jesus A, Seixas G, Nazareth T, In S, Mao S, et al. First dengue virus seroprevalence study on Madeira Island after the 2012 outbreak indicates unreported dengue circulation. Parasit Vectors. 2019;12:103 pubmed publisher
    ..antibodies were detected with an in-house enzyme-linked immunosorbent assay (ELISA) using the dimer of domain III (ED3) of the DENV-1 envelope protein as well as commercial Panbio indirect and capture IgG ELISAs...
  4. Li Y, Zhao W, Li D, Tao X, Xiong Z, Liu J, et al. [The effect of EDARV370A on facial and ear morphologies in Uyghur population]. Yi Chuan. 2018;40:1024-1032 pubmed publisher
    The ectodysplasinA receptor gene (EDAR) plays an important role in the development of ectoderm. The derived G allele of its key missense variant EDARV370A is prevalent in East Asians and Americans, but rare in Africans and Europeans...
  5. Yang J, Wang S, Choi M, Reid B, Hu Y, Lee Y, et al. Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. Mol Genet Genomic Med. 2015;3:40-58 pubmed publisher
    ..Arg104Cys defect, in the absence of EDA,EDAR, or EDARADD variations...
  6. Gonçalves G, Maestri R, Moreira G, Jacobi M, Freitas T, Hoekstra H. Divergent genetic mechanism leads to spiny hair in rodents. PLoS ONE. 2018;13:e0202219 pubmed publisher
    ..of this convergent evolution, we tested whether a single amino acid change (V370A) in the Ectodysplasin A receptor (Edar) gene is associated with spiny hair, as this substitution causes thicker and straighter hair in East Asian human ..
  7. Wegner K, Mehta V, Johansson J, Mueller B, Keil K, Abler L, et al. Edar is a downstream target of beta-catenin and drives collagen accumulation in the mouse prostate. Biol Open. 2019;8: pubmed publisher
    Beta-catenin (CTNNB1) directs ectodermal appendage spacing by activating ectodysplasin A receptor (EDAR) transcription, but whether CTNNB1 acts by a similar mechanism in the prostate, an endoderm-derived tissue, is unclear...
  8. Manner J. Does the subepicardial mesenchyme contribute myocardioblasts to the myocardium of the chick embryo heart? A quail-chick chimera study tracing the fate of the epicardial primordium. Anat Rec. 1999;255:212-26 pubmed
    ..The proepicardial serosa was transplanted from HH16/17 quail embryos to HH16/17 chick embryos (ED3)...
  9. Kowalczyk Quintas C, Schuepbach Mallepell S, Willen L, Smith T, Huttner K, Kirby N, et al. Pharmacological stimulation of Edar signaling in the adult enhances sebaceous gland size and function. J Invest Dermatol. 2015;135:359-368 pubmed publisher
    Impaired ectodysplasin A (EDA) receptor (EDAR) signaling affects ectodermally derived structures including teeth, hair follicles, and cutaneous glands...
  10. Pitcher T, Sarathy V, Matsui K, Gromowski G, Huang C, Barrett A. Functional analysis of dengue virus (DENV) type 2 envelope protein domain 3 type-specific and DENV complex-reactive critical epitope residues. J Gen Virol. 2015;96:288-93 pubmed publisher
    The dengue virus (DENV) envelope protein domain 3 (ED3) is the target of potent virus neutralizing antibodies...
  11. Murakami S, Arai Y. Transient expression of somatostatin immunoreactivity in the olfactory-forebrain region in the chick embryo. Brain Res Dev Brain Res. 1994;82:277-85 pubmed
    ..SST immunoreactivity in the nasal and forebrain areas was most striking at ED5-8 but a reduction of SST immunoreactivity in the nasal and forebrain areas occurred at ED11 and it virtually ..
  12. Vicente Steijn R, Sedmera D, Blom N, Jongbloed M, Kvasilova A, Nanka O. Apoptosis and epicardial contributions act as complementary factors in remodeling of the atrioventricular canal myocardium and atrioventricular conduction patterns in the embryonic chick heart. Dev Dyn. 2018;247:1033-1042 pubmed publisher
    ..5-1 kHz. Apoptotic cells were quantified (ED5-ED7) by whole-mount LysoTracker Red and anti-active caspase 3 staining...
  13. Reyes Reali J, Mendoza Ramos M, Garrido Guerrero E, Méndez Catalá C, Méndez Cruz A, Pozo Molina G. Hypohidrotic ectodermal dysplasia: clinical and molecular review. Int J Dermatol. 2018;57:965-972 pubmed publisher
    ..in the comprehension of all the possible genes involved in this group of disorders since it is known that Eda-A1-Edar signaling has multiple roles in ectodermal organ development, regulating their initiation, morphogenesis, and ..
  14. Vieira A, D Souza R, Mues G, Deeley K, Hsin H, Küchler E, et al. Candidate gene studies in hypodontia suggest role for FGF3. Eur Arch Paediatr Dent. 2013;14:405-10 pubmed publisher
    ..01) is associated with hypodontia and added EDAR (rs17269487, p = 0.04), LHX6 (rs989798, p = 0.02), and MSX1 (rs12532, p = 0.003)...
  15. Ngo H, Kook M, Yi T. Flavobacterium daemonensis sp. nov., isolated from Daemo Mountain soil. Int J Syst Evol Microbiol. 2015;65:983-9 pubmed publisher
    ..gene sequence comparisons, strain THG-DJ7(T) was found to be most closely related to Flavobacterium denitrificans ED5(T) (97.9 % sequence similarity), Flavobacterium ginsenosidimutans THG 01(T) (97...
  16. Liang H, Sun Q, Zhen Y, Li F, Xu Y, Liu Y, et al. The differentiation of amniotic fluid stem cells into sweat glandlike cells is enhanced by the presence of Sonic hedgehog in the conditioned medium. Exp Dermatol. 2016;25:714-20 pubmed publisher
    ..used to confirm the expression of the sweat gland-related genes Ectodysplasin-A (EDA), Ectodysplasin-A receptor (EDAR), keratin 8 (K8) and carcino-embryonic antigen (CEA)...
  17. Sun Y, Nakanishi M, Sato F, Oikawa K, Muragaki Y, Zhou G. Trps1 deficiency inhibits the morphogenesis of secondary hair follicles via decreased Noggin expression. Biochem Biophys Res Commun. 2015;456:721-6 pubmed publisher
    ..Sonic hedgehog expression was significantly decreased in E17.5 KO skin, whereas no changes were observed in Eda/Edar expression in E14.5 or E17.5 skins. In addition, Noggin expression was significantly decreased in E14.5 and E17...
  18. Han X, Yoshizaki K, Miyazaki K, Arai C, Funada K, Yuta T, et al. The transcription factor NKX2-3 mediates p21 expression and ectodysplasin-A signaling in the enamel knot for cusp formation in tooth development. J Biol Chem. 2018;293:14572-14584 pubmed publisher
    ..The interaction of ectodysplasin-A (EDA) with its receptor, EDAR, plays a critical role in cusp formation by these enamel knots, and mutations of these genes is a cause of ..
  19. Pośpiech E, Chen Y, Kukla Bartoszek M, Breslin K, Aliferi A, Andersen J, et al. Towards broadening Forensic DNA Phenotyping beyond pigmentation: Improving the prediction of head hair shape from DNA. Forensic Sci Int Genet. 2018;37:241-251 pubmed publisher
    ..789 in non-Europeans; the statistically significant difference was explained mostly by the effect of one EDAR SNP in non-Europeans...
  20. Liu S, Wang J, Huang W, Tan X, Dong H, Goodman B, et al. Adsorption of phenolic compounds from water by a novel ethylenediamine rosin-based resin: Interaction models and adsorption mechanisms. Chemosphere. 2019;214:821-829 pubmed publisher
    This study describes the adsorption performance of a novel ethylenediamine rosin-based resin (EDAR) for several industrially-important phenolic compounds...
  21. Reijs B, Ramakers I, Elias Sonnenschein L, Teunissen C, Koel Simmelink M, Tsolaki M, et al. Relation of Odor Identification with Alzheimer's Disease Markers in Cerebrospinal Fluid and Cognition. J Alzheimers Dis. 2017;60:1025-1034 pubmed publisher
    ..with mild cognitive impairment (MCI), 42 with AD-type dementia, and 26 individuals with non-AD dementia) from the EDAR study. Individuals were recruited from six memory clinics across Europe...
  22. Vial J, Royet A, Cassier P, Tortereau A, Dinvaut S, Maillet D, et al. The Ectodysplasin receptor EDAR acts as a tumor suppressor in melanoma by conditionally inducing cell death. Cell Death Differ. 2019;26:443-454 pubmed publisher
    Ectodysplasin receptor EDAR is seen as a typical Tumor Necrosis Factor receptor (TNFR) family member known to interact with its ligand Eda-A1, and signaling mainly through the nuclear factor-kappaB (NF-κB) and c-jun N-terminal kinases ..
  23. Williams N, Leidy H, Hill B, Lieberman J, Legro R, De Souza M. Magnitude of daily energy deficit predicts frequency but not severity of menstrual disturbances associated with exercise and caloric restriction. Am J Physiol Endocrinol Metab. 2015;308:E29-39 pubmed publisher
    ..e., mild (ED1; -8 ± 2%), moderate (ED2; -22 ± 3%), or severe (ED3; -42 ± 3%)...
  24. Deshmukh S, Prashanth S. Ectodermal dysplasia: a genetic review. Int J Clin Pediatr Dent. 2012;5:197-202 pubmed publisher
    ..by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further ..
  25. Kimura R, Watanabe C, Kawaguchi A, Kim Y, Park S, Maki K, et al. Common polymorphisms in WNT10A affect tooth morphology as well as hair shape. Hum Mol Genet. 2015;24:2673-80 pubmed publisher
    ..To date, it has been revealed that a non-synonymous polymorphism in EDAR has effects on the morphological variation in both hair and teeth...
  26. Nelson A, Reddy S, Ratliff T, Hossain M, Katseff A, Zhu A, et al. dsRNA Released by Tissue Damage Activates TLR3 to Drive Skin Regeneration. Cell Stem Cell. 2015;17:139-51 pubmed publisher
    ..stem cell markers and induces elements of the core hair morphogenetic program, including ectodysplasin A receptor (EDAR) and the Wnt and Shh pathways...
  27. Chen W, Su C, Sheu S. Flavobacterium dispersum sp. nov., isolated from a freshwater spring. Int J Syst Evol Microbiol. 2017;67:4416-4423 pubmed publisher
    ..Flavobacterium and showed the highest levels of sequence similarity with respect to Flavobacterium denitrificans ED5T (97.3?%), Flavobacterium kyungheense THG-107T (97...
  28. Endo C, Johnson T, Morino R, Nakazono K, Kamitsuji S, Akita M, et al. Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. Sci Rep. 2018;8:8974 pubmed publisher
    ..A known hair morphology signal in EDAR was associated with both eyebrow thickness (rs3827760; P?=?1...
  29. Hill G, Headon D, Harris Z, Huttner K, Limesand K. Pharmacological activation of the EDA/EDAR signaling pathway restores salivary gland function following radiation-induced damage. PLoS ONE. 2014;9:e112840 pubmed publisher
    ..During embryogenesis, the ectodysplasin/ectodysplasin receptor (EDA/EDAR) signaling pathway is a critical element in the development and growth of salivary glands...
  30. Wohlfart S, Hammersen J, Schneider H. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. J Hum Genet. 2016;61:891-897 pubmed publisher
    ..If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a common signaling pathway...
  31. Johnson E, Anand R, Chiu D. Improved detection by ensemble-decision aliquot ranking of circulating tumor cells with low numbers of a targeted surface antigen. Anal Chem. 2015;87:9389-95 pubmed publisher
    ..This technology, termed ensemble decision aliquot ranking (eDAR), recovered spiked-in cancer cells (taken from a model EpCAM(high) cell line) from blood at an efficiency of 95%...
  32. Lu Y, Du J, Yu Z, Peng J, Xu J, Wang X. Identification of potential targets for thylakoid oxidoreductase AtVKOR/LTO1 in chloroplasts. Protein Pept Lett. 2014;22:219-25 pubmed
    ..with AtVKOR, including HCF164, cytochrome c6A, violaxanthin deepoxidase, embryo sac development arrest 3 protein (EDA3), two members pentapeptide repeat proteins (TL17 and TL20.3), and two FK-506 binding proteins (FKBP13 and FKBP20-2)...
  33. Tan Z, Chen Y, Zhao H, Zhao H, Zhao A, Zhao Z, et al. [Differential expression profile of microRNAs between human bone marrow mesenchymal stem cells and sweat gland-like cells]. Zhonghua Yi Xue Za Zhi. 2015;95:2626-9 pubmed
    ..protein kinase (MAPK/Erk), Wnt/beta-Catenin (Wnt/β-Catenin) and ectodysplasin-A1/ectodysplasin-A1 receptor (EDA/EDAR). The results of RT-PCR on miRNA-146a-5p and miRNA-6812-5p had a high concordance with the results of microarray...
  34. Cheng J, Sedlazek F, Altmuller J, Nolte A. Ectodysplasin signalling genes and phenotypic evolution in sculpins (Cottus). Proc Biol Sci. 2015;282: pubmed publisher
    ..A genomic region containing the Eda receptor (Edar) was strongly associated with prickling and contributed to shape...
  35. Callea M, Cammarata Scalisi F, Willoughby C, Giglio S, Sani I, Bargiacchi S, et al. [Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. Arch Argent Pediatr. 2017;115:e34-e38 pubmed publisher
    ..by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD...
  36. Hlusko L, Carlson J, Chaplin G, Elias S, Hoffecker J, Huffman M, et al. Environmental selection during the last ice age on the mother-to-infant transmission of vitamin D and fatty acids through breast milk. Proc Natl Acad Sci U S A. 2018;115:E4426-E4432 pubmed publisher
    ..The ectodysplasin A receptor (EDAR) gene has a range of pleiotropic effects, including sweat gland density, incisor shoveling, and mammary gland ..
  37. Labiad Y, Venton G, Farnault L, Baier C, Colle J, Mercier C, et al. A transcriptomic signature predicting septic outcome in patients undergoing autologous stem cell transplantation. Exp Hematol. 2018;65:49-56 pubmed publisher
    ..collected just after conditioning regimen identified an 11-gene signature (CHAT, CNN3, ANKRD42, LOC100505725, EDAR, GPAT2, ENST00000390425, MTRM8, C6orf192, LOC10289230, and XLOC-005643) that was able to early predict (at least 2-..
  38. Sisto M, Barca A, Lofrumento D, Lisi S. Downstream activation of NF-κB in the EDA-A1/EDAR signalling in Sjögren's syndrome and its regulation by the ubiquitin-editing enzyme A20. Clin Exp Immunol. 2016;184:183-96 pubmed publisher
    ..Because A20 controls the ectodysplasin-A1 (EDA-A1)/ectodysplasin receptor (EDAR) signalling negatively, and the deletion of A20 results in excessive EDA1-induced NF-κB signalling, this work ..
  39. Gaczkowska A, Abdalla E, Dowidar K, Elhady G, Jagodzinski P, Mostowska A. De novo EDA mutations: Variable expression in two Egyptian families. Arch Oral Biol. 2016;68:21-8 pubmed publisher
    ..Direct sequencing of the coding regions including exon-intron boundaries of EDA, MSX1, PAX9, WNT10A and EDAR was performed in probands and their available family members...
  40. Choi J, Kim R, Yoon S, Kim W. Developmental Toxicity of Zinc Oxide Nanoparticles to Zebrafish (Danio rerio): A Transcriptomic Analysis. PLoS ONE. 2016;11:e0160763 pubmed publisher
    ..exposure shared similar biological pathways with those observed with ZnSO4 exposure, but six genes (aicda, cyb5d1, edar, intl2, ogfrl2 and tnfsf13b) associated with inflammation and the immune system responded specifically to ZnO NPs (..
  41. Jinam T, Kanzawa Kiriyama H, Inoue I, Tokunaga K, Omoto K, Saitou N. Unique characteristics of the Ainu population in Northern Japan. J Hum Genet. 2015;60:565-71 pubmed publisher
    ..with Mainland Japanese; and (5) highly differentiated genomic regions between Ainu and Mainland Japanese included EDAR and COL7A1 gene regions, which were shown to influence macroscopic phenotypes...
  42. Ruiz Heiland G, Jabir S, Wende W, Blecher S, Bock N, Ruf S. Novel missense mutation in the EDA gene in a family affected by oligodontia. J Orofac Orthop. 2016;77:31-8 pubmed publisher
    Mutations in the EDA-EDAR-EDARADD genes and more recently, mutations in the WNT10A gene have been described as the cause of syndromic and nonsyndromic tooth agenesis concomitant with diverse abnormalities of ectodermally derived tissues...
  43. Zeng B, Xiao X, Li S, Lu H, Lu J, Zhu L, et al. Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients. Genes (Basel). 2016;7: pubmed publisher
    ..Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and ..
  44. Zhao M, Wei B, Nelson W, Schiro P, Chiu D. Simultaneous and selective isolation of multiple subpopulations of rare cells from peripheral blood using ensemble-decision aliquot ranking (eDAR). Lab Chip. 2015;15:3391-6 pubmed publisher
    ..To address this need, we re-designed our ensemble-decision aliquot ranking (eDAR) system to detect, isolate, and study two subpopulations of rare cells in the same microchip...
  45. Kulkarni M, Numoto N, Ito N, Kuroda Y. Modeling and experimental assessment of a buried Leu-Ile mutation in dengue envelope domain III. Biochem Biophys Res Commun. 2016;471:163-8 pubmed publisher
    Envelope protein domain III (ED3) of the dengue virus is important for both antibody binding and host cell interaction...
  46. Xiao Y, Thoresen D, Miao L, Williams J, Wang C, ATIT R, et al. A Cascade of Wnt, Eda, and Shh Signaling Is Essential for Touch Dome Merkel Cell Development. PLoS Genet. 2016;12:e1006150 pubmed publisher
    ..We found dermal Wnt signaling and subsequent epidermal Eda/Edar signaling promoted Merkel cell morphogenesis by inducing Shh expression in early follicles...
  47. Wohlfart S, Söder S, Smahi A, Schneider H. A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. Am J Med Genet A. 2016;170A:249-53 pubmed publisher
    ..HED forms that are caused by mutations in the genes EDA, EDAR, or EDARADD may show almost identical phenotypes, explained by a common signaling pathway...
  48. Adhikari K, Fuentes Guajardo M, Quinto Sánchez M, Mendoza Revilla J, Camilo Chacón Duque J, Acuña Alonzo V, et al. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nat Commun. 2016;7:11616 pubmed publisher
    ..Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1...
  49. Ahtiainen L, Uski I, Thesleff I, Mikkola M. Early epithelial signaling center governs tooth budding morphogenesis. J Cell Biol. 2016;214:753-67 pubmed publisher
    ..We demonstrate that the activity of the ectodysplasin/Edar/nuclear factor ?B pathway is restricted to the signaling center, and its inactivation leads to fewer quiescent ..
  50. Podzus J, Kowalczyk Quintas C, Schuepbach Mallepell S, Willen L, Staehlin G, Vigolo M, et al. Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia. J Dent Res. 2017;96:217-224 pubmed publisher
    ..ectodysplasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA receptor (EDAR) and X-linked EDA receptor (XEDAR/EDA2R), respectively...
  51. Costa R, Power D. Skin and scale regeneration after mechanical damage in a teleost. Mol Immunol. 2018;95:73-82 pubmed publisher
    ..Epithelial-mesenchyme interactions assessed by expression of edar and shh were associated with epidermal closure, the re-establishment of the basement membrane and also scale ..
  52. Poh S, Chua M, Wee J. Carcinogenesis of nasopharyngeal carcinoma: an alternate hypothetical mechanism. Chin J Cancer. 2016;35:9 pubmed publisher
    ..association of salivary gland morphogenesis with an evolutionary variant of the human ectodysplasin receptor gene (EDAR), EDARV370A...
  53. Shahid M, Balto H, Al Hammad N, Joshi S, Khalil H, Somily A, et al. Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis. Eur J Med Genet. 2016;59:377-85 pubmed publisher
    ..in many genes such as MSH homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin A (EDA) and EDA receptor (EDAR) have been associated with familial form of this condition...
  54. Sulovari A, Chen Y, Hudziak J, Li D. Atlas of human diseases influenced by genetic variants with extreme allele frequency differences. Hum Genet. 2017;136:39-54 pubmed publisher
    ..They included known EAFD genes, such as LCT (lactose tolerance), SLC24A5 (skin pigmentation), and EDAR (hair morphology)...
  55. Edmunds R, Su B, Balhoff J, Eames B, Dahdul W, Lapp H, et al. Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes. Mol Biol Evol. 2016;33:13-24 pubmed publisher
    ..that these features evolved through disruption in developmental pathways at, or upstream of, brpf1 and eda/edar for the ancestral losses of basihyal element and scales, respectively...
  56. Duforet Frebourg N, Luu K, Laval G, Bazin E, Blum M. Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data. Mol Biol Evol. 2016;33:1082-93 pubmed publisher
    ..between genetic variation and each principal component provide well-known targets for positive selection (EDAR, SLC24A5, SLC45A2, DARC), and also new candidate genes (APPBPP2, TP1A1, RTTN, KCNMA, MYO5C) and noncoding RNAs...
  57. Kantaputra P, Kaewgahya M, Hatsadaloi A, Vogel P, Kawasaki K, Ohazama A, et al. GREMLIN 2 Mutations and Dental Anomalies. J Dent Res. 2015;94:1646-52 pubmed publisher
    ..It has been associated with mutations in MSX1, PAX9, EDA, AXIN2, EDAR, EDARADD, and WNT10A...
  58. Sinha S, Zachariah S, QUINONES H, Shindo M, Chaudhary P. Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor. J Biol Chem. 2002;277:44953-61 pubmed
    X-linked ectodermal dysplasia receptor (XEDAR) is a recently isolated member of the tumor necrosis factor receptor family that has been shown to be highly expressed in ectodermal derivatives during embryonic development and binds to ..
  59. Thesleff I, Mikkola M. Death receptor signaling giving life to ectodermal organs. Sci STKE. 2002;2002:pe22 pubmed
    ..previously unknown proteins: the TNF ligand ectodysplasin (also known as EDA), its death domain-containing receptor EDAR, and the death domain adapter molecule EDARADD...
  60. Guazzarotti L, Tadini G, Mancini G, Sani I, Pisanelli S, Galderisi F, et al. WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI). Clin Genet. 2017;: pubmed publisher
    ..structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24.8%), 11 of which were novel variants...
  61. Cheng X, Xu C, DeGiorgio M. Fast and robust detection of ancestral selective sweeps. Mol Ecol. 2017;: pubmed publisher
    ..genes that may have been adaptive in ancestral East Asian populations, uncovering the well-established candidate EDAR, as well as a novel candidate SLC35F3, which encodes a putative thiamine transporter that may have been involved in ..
  62. van der Hout A, Oudesluijs G, Venema A, Verheij J, Mol B, Rump P, et al. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet. 2008;16:673-9 pubmed publisher
    ..can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR) and EDAR-associated death domain (EDARADD) genes...
  63. Stecksén Blicks C, Falk Kieri C, Hägg D, Schmitt Egenolf M. Hair shaft structures in EDAR induced ectodermal dysplasia. BMC Med Genet. 2015;16:79 pubmed publisher
    Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia with defects in ectodermal appendage development including teeth, skin, exocrine glands and hair. Hair defects are sparsely described in genetically defined samples...
  64. Kumar A, Eby M, Sinha S, Jasmin A, Chaudhary P. The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A. J Biol Chem. 2001;276:2668-77 pubmed
    The ectodermal dysplasia receptor (EDAR) is a recently isolated member of the tumor necrosis factor receptor family that has been shown to play a key role in the process of ectodermal differentiation...
  65. Naqvi S, Wasif N, Javaid H, Ahmad W. Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. Orthod Craniofac Res. 2011;14:156-9 pubmed publisher
    ..Mutations in four genes including EDA, EDAR, EDARADD, and WNT10A are known to cause hypohidrotic and anhidrotic ectodermal dysplasia...
  66. Callea M, Willoughby C, Nieminen P, Di Stazio M, Bellacchio E, Giglio S, et al. Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. J Eur Acad Dermatol Venereol. 2015;29:1032-4 pubmed publisher
  67. RamaDevi A, Reddy E, Ranjan S, Bashyam M. Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes. Br J Dermatol. 2008;158:163-7 pubmed
  68. Ropkins K, DeFries T, Pope F, Green D, Kemper J, Kishan S, et al. Evaluation of EDAR vehicle emissions remote sensing technology. Sci Total Environ. 2017;609:1464-1474 pubmed publisher
    ..studies of one new-to-market real-world monitoring option, HEAT LLC's Emission Detection And Reporting system or EDAR, an above-road open path instrument that uses Differential Absorption LIDAR to provide a highly sensitive and ..
  69. Kido T, Tsunoda M, Sugaya C, Hano H, Yanagisawa H. Fluoride potentiates tubulointerstitial nephropathy caused by unilateral ureteral obstruction. Toxicology. 2017;392:106-118 pubmed publisher
    ..with antibodies against collagen type I, alpha-smooth muscle actin (?-SMA, a myofibroblast marker), ED1, ED2, and ED3 (macrophage markers), and TGF-?1...
  70. Yan M, Zhang Z, Brady J, Schilbach S, Fairbrother W, Dixit V. Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice. Curr Biol. 2002;12:409-13 pubmed
    ..A phenotypically indistinguishable autosomal form of the disease results from mutations in the receptor for EDA (EDAR). EDAR is a NF-kappaB-activating, death domain-containing member of the TNF receptor family...
  71. Tariq M, Wasif N, Ahmad W. A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia. Br J Dermatol. 2007;157:207-9 pubmed
  72. Zeng B, Zhao Q, Li S, Lu H, Lu J, Ma L, et al. Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis. Genes (Basel). 2017;8: pubmed publisher
    ..We screened for mutations of WNT10A, EDA, EDAR, EDARADD, PAX9, MSX1, AXIN2, LRP6, and WNT10B through Sanger sequencing...
  73. Tan J, Peng Q, Li J, Guan Y, Zhang L, Jiao Y, et al. Characteristics of dental morphology in the Xinjiang Uyghurs and correlation with the EDARV370A variant. Sci China Life Sci. 2014;57:510-8 pubmed publisher
    ..This finding suggested that incisor shoveling in modern humans in East Asia is likely to have appeared after the late Pleistocene. ..
  74. Wu S, Tan J, Yang Y, Peng Q, Zhang M, Li J, et al. Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations. Hum Genet. 2016;135:1279-1286 pubmed
    ..sampling 2899 Han Chinese, we performed the first genome-wide scan of hair straightness in East Asians, and found EDAR (rs3827760) as the predominant gene (P = 4.67 × 10-16), accounting for 3...
  75. Shao J, Raza M, Zhuoma B, Zeng C. Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations. Sci China Life Sci. 2018;61:68-78 pubmed publisher
    ..In the present study, we employed a candidate gene approach and re-sequenced the EDAR locus in 45 Tibetan individuals to identify mutations involved in hypoxia adaptation...
  76. Hashimoto T, Cui C, Schlessinger D. Repertoire of mouse ectodysplasin-A (EDA-A) isoforms. Gene. 2006;371:42-51 pubmed
    ..Other isoforms, EDA-A5 and A5', for example, activated NF-kappaB through receptors EDAR and XEDAR. These properties make new isoforms candidates for modulators of EDA function.
  77. Adhikari K, Reales G, Smith A, Konka E, Palmen J, Quinto Sánchez M, et al. A genome-wide association study identifies multiple loci for variation in human ear morphology. Nat Commun. 2015;6:7500 pubmed publisher
    ..Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development...
  78. Fons Romero J, Star H, Lav R, Watkins S, Harrison M, Hovorakova M, et al. The Impact of the Eda Pathway on Tooth Root Development. J Dent Res. 2017;96:1290-1297 pubmed publisher
    The Eda pathway ( Eda, Edar, Edaradd) plays an important role in tooth development, determining tooth number, crown shape, and enamel formation. Here we show that the Eda pathway also plays a key role in root development...
  79. Kantaputra P, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, et al. Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. Eur J Med Genet. 2017;60:695-700 pubmed publisher
    ..patient and his parents ruled out mutations in 11 known hypodontia-associated genes including WNT10A, MSX1, EDA, EDAR, EDARADD, PAX9, AXIN2, GREM2, NEMO, KRT17, and TFAP2B...
  80. Liu F, Chen Y, Zhu G, Hysi P, Wu S, Adhikari K, et al. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair. Hum Mol Genet. 2017;: pubmed publisher
    ..Three additional previously known genes (EDAR, OFCC1, and PRSS53) were confirmed at nominal significance level...
  81. Clauss F, Chassaing N, Smahi A, Vincent M, Calvas P, Molla M, et al. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. Clin Genet. 2010;78:257-66 pubmed publisher
    ..by abnormal development of ectodermal structures and its molecular etiology corresponds to mutations of EDA-EDAR genes...
  82. Jia S, Zhou J, Wee Y, Mikkola M, Schneider P, D Souza R. Anti-EDAR Agonist Antibody Therapy Resolves Palate Defects in Pax9-/- Mice. J Dent Res. 2017;96:1282-1289 pubmed publisher
    ..the arrest in tooth, thymus, and parathyroid gland development, suggesting that the relationship of Pax9 to the Eda/Edar pathway is both unique and essential for palatogenesis...
  83. Yan M, Wang L, Hymowitz S, Schilbach S, Lee J, Goddard A, et al. Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. Science. 2000;290:523-7 pubmed
    ..This insertion functions to determine receptor binding specificity, such that EDA-A1 binds only the receptor EDAR, whereas EDA-A2 binds only the related, but distinct, X-linked ectodysplasin-A2 receptor (XEDAR)...
  84. Kimura R, Yamaguchi T, Takeda M, Kondo O, Toma T, Haneji K, et al. A common variation in EDAR is a genetic determinant of shovel-shaped incisors. Am J Hum Genet. 2009;85:528-35 pubmed publisher
    ..In ectodysplasin A receptor (EDAR), where dysfunctional mutations cause hypohidrotic ectodermal dysplasia, there is a nonsynonymous-derived variant, ..
  85. Moya Quiles M, Ballesta Martínez M, López González V, Glover G, Guillen Navarro E. A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2010;302:307-10 pubmed publisher
    ..Autosomal forms result from mutations in either the EDAR or the EDARADD gene. The X-linked and autosomal forms are phenotypically indistinguishable...
  86. Mou C, Thomason H, Willan P, Clowes C, Harris W, Drew C, et al. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. Hum Mutat. 2008;29:1405-11 pubmed publisher
    ..Ectodysplasin-A receptor (EDAR) is a cell surface receptor of the tumor necrosis factor receptor (TNFR) family involved in the development of hair ..
  87. Bashyam M, Chaudhary A, Reddy E, Reddy V, Acharya V, Nagarajaram H, et al. A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. Br J Dermatol. 2012;166:819-29 pubmed publisher
    ..which encodes a ligand belonging to the tumour necrosis factor (TNF) superfamily; ectodysplasin A receptor (EDAR), encoding the EDA-A1 receptor and ectodysplasin A receptor-associated death domain (EDARADD), encoding an adaptor ..
  88. Peng Q, Li J, Tan J, Yang Y, Zhang M, Wu S, et al. EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects. Hum Genet. 2016;135:99-108 pubmed publisher
    ..This study extends our knowledge about the pleiotropic nature of EDARV370A and provides potential clues to its adaptation fitness in human evolution. ..
  89. Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L, et al. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet. 2008;17:835-43 pubmed
    ..Among highly differentiated genes, ectodysplasin A receptor (EDAR) harboring an Asian-specific non-synonymous single nucleotide polymorphism (1540T/C, 370Val/Ala) was identified as ..
  90. Kieri C, Bergendal B, Lind L, Schmitt Egenolf M, Stecksen Blicks C. EDAR-induced hypohidrotic ectodermal dysplasia: a clinical study on signs and symptoms in individuals with a heterozygous c.1072C?>?T mutation. BMC Med Genet. 2014;15:57 pubmed publisher
    Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c...
  91. Soraas L, Stebbing J. Geographic Variation in EGFR Mutation Frequency in Lung Adenocarcinoma May Be Explained by Interethnic Genetic Variation. J Thorac Oncol. 2018;13:454-458 pubmed publisher
    ..between two biomarkers of East Asian ancestry, the genetic polymorphisms ectodysplasin A receptor gene (EDAR) V370A and ATP binding cassette subfamily C member 11 gene (ABCC11) G180A, and the frequency of EGFR mutations in ..