These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 38275590)

  • 1. A Missense Mutation in the Collagen Triple Helix of
    Reinartz S; Weiß C; Heppelmann M; Hewicker-Trautwein M; Hellige M; Willen L; Feige K; Schneider P; Distl O
    Genes (Basel); 2023 Dec; 15(1):. PubMed ID: 38275590
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia.
    Capuzzello G; Jacinto JGP; Häfliger IM; Chapman GE; Martin SS; Viora L; Jonsson NN; Drögemüller C
    Acta Vet Scand; 2022 Sep; 64(1):23. PubMed ID: 36068608
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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;
    Orphanet J Rare Dis; 2019 Dec; 14(1):281. PubMed ID: 31796081
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A
    Vasiliadis D; Hewicker-Trautwein M; Klotz D; Fehr M; Ruseva S; Arndt J; Metzger J; Distl O
    G3 (Bethesda); 2019 Jan; 9(1):95-104. PubMed ID: 30397018
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems.
    Khabour OF; Mesmar FS; Al-Tamimi F; Al-Batayneh OB; Owais AI
    Genet Mol Res; 2010 May; 9(2):941-8. PubMed ID: 20486090
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gene Mutations of the Three Ectodysplasin Pathway Key Players (
    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; 12(9):. PubMed ID: 34573371
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.
    Sadia ; Foo JN; Khor CC; Jelani M; Ali G
    J Gene Med; 2019 Sep; 21(9):e3113. PubMed ID: 31310406
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 223(1):74-9. PubMed ID: 21876339
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
    Bal E; Baala L; Cluzeau C; El Kerch F; Ouldim K; Hadj-Rabia S; Bodemer C; Munnich A; Courtois G; Sefiani A; Smahi A
    Hum Mutat; 2007 Jul; 28(7):703-9. PubMed ID: 17354266
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses.
    Krull F; Bleyer M; Schäfer J; Brenig B
    PLoS One; 2024; 19(1):e0291411. PubMed ID: 38252617
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation identification in a canine model of X-linked ectodermal dysplasia.
    Casal ML; Scheidt JL; Rhodes JL; Henthorn PS; Werner P
    Mamm Genome; 2005 Jul; 16(7):524-31. PubMed ID: 16151697
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel frameshift mutation in the
    Rahbaran M; Hassani Doabsari M; Salavitabar S; Mokhberian N; Morovvati Z; Morovvati S
    Cell Mol Biol Lett; 2019; 24():54. PubMed ID: 31452656
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.
    Zeng B; Lu H; Xiao X; Zhou L; Lu J; Zhu L; Yu D; Zhao W
    Oral Dis; 2015 Nov; 21(8):994-1000. PubMed ID: 26411740
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia.
    Escouflaire C; Rebours E; Charles M; Orellana S; Cano M; Rivière J; Grohs C; Hayes H; Capitan A
    BMC Genomics; 2019 Sep; 20(1):715. PubMed ID: 31533624
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deleterious Variants in
    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; 20(21):. PubMed ID: 31652981
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
    Chaudhary AK; Gholse A; Nagarajaram HA; Dalal AB; Gupta N; Dutta AK; Danda S; Gupta R; Sankar HV; Bhavani GS; Girisha KM; Phadke SR; Ranganath P; Bashyam MD
    Am J Med Genet A; 2022 Mar; 188(3):788-805. PubMed ID: 34863015
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
    Yu K; Huang C; Wan F; Jiang C; Chen J; Li X; Wang F; Wu J; Lei M; Wu Y
    Nat Commun; 2023 Feb; 14(1):767. PubMed ID: 36765055
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.
    Liu X; Zhao Y; Zhu J
    Mol Genet Genomic Med; 2023 Apr; 11(4):e2119. PubMed ID: 36448232
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle.
    Karlskov-Mortensen P; Cirera S; Nielsen OL; Arnbjerg J; Reibel J; Fredholm M; Agerholm JS
    Anim Genet; 2011 Dec; 42(6):578-84. PubMed ID: 22034998
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.