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126 results

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Page 1
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
van den Boogaard MJ, Créton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, Cune M, Ploos van Amstel HK. van den Boogaard MJ, et al. J Med Genet. 2012 May;49(5):327-31. doi: 10.1136/jmedgenet-2012-100750. J Med Genet. 2012. PMID: 22581971 Free article.
Mutations in MSX1, PAX9, AXIN2 and the ectodermal dysplasia genes EDA, EDAR and EDARADD have been detected in familial severe tooth agenesis. However, until recently, in the majority of cases (90%) the genetic factor could not be identified, implying that other genes must …
Mutations in MSX1, PAX9, AXIN2 and the ectodermal dysplasia genes EDA, EDAR and EDARADD have been detected in familial severe tooth a …
EDARADD promotes colon cancer progression by suppressing E3 ligase Trim21-mediated ubiquitination and degradation of Snail.
Yang J, Liao Y, Wang B, Cui L, Yu X, Wu F, Zhang Y, Liu R, Yao Y. Yang J, et al. Cancer Lett. 2023 Nov 28;577:216427. doi: 10.1016/j.canlet.2023.216427. Epub 2023 Oct 12. Cancer Lett. 2023. PMID: 37838280 Free article.
However, the limited comprehension of its genetic and biological aspects presents challenges for its investigation. EDAR-associated death domain (EDARADD), an important TNFR superfamily member, is elevated in colon cancer. ...In conclusion, this …
However, the limited comprehension of its genetic and biological aspects presents challenges for its investigation. EDAR-associate …
EDARADD silencing suppresses the proliferation and migration of bladder cancer cells.
Fang Z, Yang X, Wei X, Yang Y, Yi C, Song D. Fang Z, et al. Urol Oncol. 2022 Aug;40(8):382.e15-382.e24. doi: 10.1016/j.urolonc.2022.04.017. Epub 2022 May 28. Urol Oncol. 2022. PMID: 35637063
The high EDARADD level indicated a poor survival. Interestingly, EDARADD silencing suppressed the proliferation, migration and EMT of bladder cancer cells. Furthermore, the MAPK signaling pathway was repressed by EDARADD silencing. Additionally, silencing …
The high EDARADD level indicated a poor survival. Interestingly, EDARADD silencing suppressed the proliferation, migration and …
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. Ahmed HA, et al. Genes (Basel). 2021 Sep 8;12(9):1389. doi: 10.3390/genes12091389. Genes (Basel). 2021. PMID: 34573371 Free PMC article.
We used targeted next generation sequencing to study EDA, EDAR, EDARADD, and WNT10A genes in 45 Egyptian ED patients with or without hypohidrosis. We present genotype and phenotype data of 28 molecularly-characterized patients demonstrating genetic heterogeneity, variable …
We used targeted next generation sequencing to study EDA, EDAR, EDARADD, and WNT10A genes in 45 Egyptian ED patients with or without …
TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.
Morlon A, Munnich A, Smahi A. Morlon A, et al. Hum Mol Genet. 2005 Dec 1;14(23):3751-7. doi: 10.1093/hmg/ddi405. Epub 2005 Oct 26. Hum Mol Genet. 2005. PMID: 16251197
Activation of the NF-kappaB pathway by the TNF-receptor Edar (Ectodysplasin receptor) and its downstream adaptator Edaradd (Edar-associated death domain) is essential for the development of hair follicles, teeth, exocrine glands and other ectode …
Activation of the NF-kappaB pathway by the TNF-receptor Edar (Ectodysplasin receptor) and its downstream adaptator Edaradd (Edar …
Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
Asano N, Yasuno S, Hayashi R, Shimomura Y. Asano N, et al. J Dermatol. 2021 Oct;48(10):1533-1541. doi: 10.1111/1346-8138.16044. Epub 2021 Jul 4. J Dermatol. 2021. PMID: 34219261
Importantly, p.D120Y-, p.L122R-, and p.D123N-mutant EDARADD slightly reduced the NF-kappaB activity induced by wild-type EDARADD in a dominant negative manner. Co-immunoprecipitation assays showed that all of the mutant EDARADD were capable of binding to EDAR …
Importantly, p.D120Y-, p.L122R-, and p.D123N-mutant EDARADD slightly reduced the NF-kappaB activity induced by wild-type EDARADD …
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). Martínez-Romero MC, et al. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. Orphanet J Rare Dis. 2019. PMID: 31796081 Free PMC article.
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common subtype, with an incidence of 1/50,000-100,000 males, and is associated with the EDA gene (Xq12-q13.1); the dominant and recessive subtypes involve the EDAR (2q13) and EDARADD (1q42.3) genes, respectivel …
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common subtype, with an incidence of 1/50,000-100,000 males, and is associate …
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.
Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P. Chassaing N, et al. Br J Dermatol. 2010 May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x. Epub 2010 Mar 5. Br J Dermatol. 2010. PMID: 20222921
Autosomal dominant and recessive forms occasionally occur and result from mutations in at least two other genes: EDAR and EDARADD. EDARADD interacts with the TAB2/TRAF6/TAK1 complex, which is necessary for NF-kappaB activation by EDAR. OBJECTIVES: To determine frequ …
Autosomal dominant and recessive forms occasionally occur and result from mutations in at least two other genes: EDAR and EDARADD. …
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N. Bergendal B, et al. Am J Med Genet A. 2011 Jul;155A(7):1616-22. doi: 10.1002/ajmg.a.34045. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626677
Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia. Mutation screening was performed using denaturing gradient gel electr …
Here we define the prevalence of mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes, and the novel candidate gene EDARADD in a c …
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Cluzeau C, et al. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Hum Mutat. 2011. PMID: 20979233
We systematically studied EDA1, EDAR, EDARADD, and WNT10A genes in a large cohort of 65 unrelated patients, of which 61 presented with HED/EDA. ...Although no clinical differences between patients carrying EDA1, EDAR, or EDARADD mutations could be identified, patien …
We systematically studied EDA1, EDAR, EDARADD, and WNT10A genes in a large cohort of 65 unrelated patients, of which 61 presented wit …
126 results