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Journal Abstract Search

354 related items for PubMed ID: 34573371

  • 1. 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.
    Genes (Basel); 2021 Sep 08; 12(9):. PubMed ID: 34573371
    [Abstract] [Full Text] [Related]

  • 2. 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).
    Orphanet J Rare Dis; 2019 Dec 03; 14(1):281. PubMed ID: 31796081
    [Abstract] [Full Text] [Related]

  • 3. 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.
    Hum Mutat; 2011 Jan 03; 32(1):70-2. PubMed ID: 20979233
    [Abstract] [Full Text] [Related]

  • 4. Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
    Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H.
    Cytogenet Genome Res; 2019 Jan 03; 157(4):189-196. PubMed ID: 30974434
    [Abstract] [Full Text] [Related]

  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wright JT, Grange DK, Fete M.
    ; 1993 Jan 03. PubMed ID: 20301291
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  • 6. 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.
    Int J Mol Sci; 2019 Oct 24; 20(21):. PubMed ID: 31652981
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  • 11. Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
    Zeng B, Xiao X, Li S, Lu H, Lu J, Zhu L, Yu D, Zhao W.
    Genes (Basel); 2016 Sep 19; 7(9):. PubMed ID: 27657131
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  • 12. Hypohidrotic ectodermal dysplasia: clinical and molecular review.
    Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G.
    Int J Dermatol; 2018 Aug 19; 57(8):965-972. PubMed ID: 29855039
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  • 13. Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
    Andreoni F, Sgattoni C, Bencardino D, Simonetti O, Forabosco A, Magnani M.
    Mol Genet Genomic Med; 2021 Jan 19; 9(1):e1555. PubMed ID: 33205897
    [Abstract] [Full Text] [Related]

  • 14. Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.
    Okita T, Asano N, Yasuno S, Shimomura Y.
    J Dermatol; 2019 Aug 19; 46(8):710-715. PubMed ID: 31245878
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  • 18. A missense mutation in the death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia.
    Masui Y, Farooq M, Sato N, Fujimoto A, Fujikawa H, Ito M, Shimomura Y.
    Dermatology; 2011 Aug 19; 223(1):74-9. PubMed ID: 21876339
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  • 19. Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.
    Kablan A, Tasdelen E.
    Ital J Pediatr; 2024 Jun 05; 50(1):112. PubMed ID: 38840186
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  • 20. De novo EDA mutations: Variable expression in two Egyptian families.
    Gaczkowska A, Abdalla EM, Dowidar KM, Elhady GM, Jagodzinski PP, Mostowska A.
    Arch Oral Biol; 2016 Aug 05; 68():21-8. PubMed ID: 27054699
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