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Items: 1 to 20 of 241

1.

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J.

Nat Genet. 1999 Aug;22(4):366-9.

PMID:
10431241
2.
3.

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC.

Hum Mutat. 2006 Mar;27(3):255-9.

PMID:
16435307
4.

Signaling and subcellular localization of the TNF receptor Edar.

Koppinen P, Pispa J, Laurikkala J, Thesleff I, Mikkola ML.

Exp Cell Res. 2001 Oct 1;269(2):180-92.

PMID:
11570810
5.

Involvement of a novel Tnf receptor homologue in hair follicle induction.

Headon DJ, Overbeek PA.

Nat Genet. 1999 Aug;22(4):370-4.

PMID:
10431242
6.

Ectodysplasin receptor-mediated signaling is essential for embryonic submandibular salivary gland development.

Jaskoll T, Zhou YM, Trump G, Melnick M.

Anat Rec A Discov Mol Cell Evol Biol. 2003 Apr;271(2):322-31.

7.

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.

Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30.

8.

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

Lind LK, Stecksén-Blicks C, Lejon K, Schmitt-Egenolf M.

BMC Med Genet. 2006 Nov 24;7:80.

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.

PMID:
17354266
10.

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

Bibi N, Ahmad S, Ahmad W, Naeem M.

Australas J Dermatol. 2011 Feb;52(1):37-42. doi: 10.1111/j.1440-0960.2010.00685.x. Epub 2010 Aug 24.

PMID:
21332691
11.

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Schneider P, Street SL, Gaide O, Hertig S, Tardivel A, Tschopp J, Runkel L, Alevizopoulos K, Ferguson BM, Zonana J.

J Biol Chem. 2001 Jun 1;276(22):18819-27. Epub 2001 Mar 14.

12.

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R, Zonana J.

Am J Hum Genet. 1997 Jul;61(1):94-100.

13.

TRAF6-deficient mice display hypohidrotic ectodermal dysplasia.

Naito A, Yoshida H, Nishioka E, Satoh M, Azuma S, Yamamoto T, Nishikawa S, Inoue J.

Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):8766-71. Epub 2002 Jun 11.

14.

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M, Basit S, Ahmad W.

Arch Dermatol Res. 2009 Sep;301(8):625-9. doi: 10.1007/s00403-009-0975-1. Epub 2009 Jun 24.

PMID:
19551394
15.

Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.

Hashiguchi T, Yotsumoto S, Kanzaki T.

Exp Dermatol. 2003 Aug;12(4):518-22.

PMID:
12930312
16.

Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis.

Tucker AS, Headon DJ, Schneider P, Ferguson BM, Overbeek P, Tschopp J, Sharpe PT.

Development. 2000 Nov;127(21):4691-700.

18.

YAC rescue of downless locus mutations in mice.

Majumder K, Shawlot W, Schuster G, Harrison W, Elder FF, Overbeek PA.

Mamm Genome. 1998 Nov;9(11):863-8.

PMID:
9799834
19.

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

Bashyam MD, Chaudhary AK, Reddy EC, Reddy V, Acharya V, Nagarajaram HA, Devi AR, Bashyam L, Dalal AB, Gupta N, Kabra M, Agarwal M, Phadke SR, Tainwala R, Kumar R, Hariharan SV.

Br J Dermatol. 2012 Apr;166(4):819-29. doi: 10.1111/j.1365-2133.2011.10707.x. Epub 2012 Mar 5.

PMID:
22032522
20.

Gene defect in ectodermal dysplasia implicates a death domain adapter in development.

Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA.

Nature. 2001 Dec 20-27;414(6866):913-6.

PMID:
11780064

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