Literature DB >> 21916884

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation.

C Cluzeau, S Hadj-Rabia, E Bal, F Clauss, A Munnich, C Bodemer, D Headon, A Smahi.   

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Year:  2011        PMID： 21916884     DOI： 10.1111/j.1365-2133.2011.10620.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  12 in total

1.  Modeling recent human evolution in mice by expression of a selected EDAR variant.

Authors:  Yana G Kamberov; Sijia Wang; Jingze Tan; Pascale Gerbault; Abigail Wark; Longzhi Tan; Yajun Yang; Shilin Li; Kun Tang; Hua Chen; Adam Powell; Yuval Itan; Dorian Fuller; Jason Lohmueller; Junhao Mao; Asa Schachar; Madeline Paymer; Elizabeth Hostetter; Elizabeth Byrne; Melissa Burnett; Andrew P McMahon; Mark G Thomas; Daniel E Lieberman; Li Jin; Clifford J Tabin; Bruce A Morgan; Pardis C Sabeti
Journal:  Cell       Date:  2013-02-14       Impact factor: 41.582

Review 2.  Sweat gland progenitors in development, homeostasis, and wound repair.

Authors:  Catherine Lu; Elaine Fuchs
Journal:  Cold Spring Harb Perspect Med       Date:  2014-02-01       Impact factor: 6.915

3.  Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

Authors:  Sigrun Wohlfart; Johanna Hammersen; Holm Schneider
Journal:  J Hum Genet       Date:  2016-06-16       Impact factor: 3.172

Review 4.  Epithelial Skin Biology: Three Decades of Developmental Biology, a Hundred Questions Answered and a Thousand New Ones to Address.

Authors:  Elaine Fuchs
Journal:  Curr Top Dev Biol       Date:  2016-02-08       Impact factor: 4.897

5.  Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.

Authors:  Kyle B Jones; Alice F Goodwin; Maya Landan; Kerstin Seidel; Dong-Kha Tran; Jacob Hogue; Miquella Chavez; Mary Fete; Wenli Yu; Tarek Hussein; Ramsey Johnson; Kenneth Huttner; Andrew H Jheon; Ophir D Klein
Journal:  Am J Med Genet A       Date:  2013-05-17       Impact factor: 2.802

6.  Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.

Authors:  Jasna Dietz; Thomas Kaercher; Anne-Theres Schneider; Theodor Zimmermann; Kenneth Huttner; Ramsey Johnson; Holm Schneider
Journal:  Eur J Pediatr       Date:  2013-04-04       Impact factor: 3.183

7.  EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects.

Authors:  Qianqian Peng; Jinxi Li; Jingze Tan; Yajun Yang; Manfei Zhang; Sijie Wu; Yu Liu; Juan Zhang; Pengfei Qin; Yaqun Guan; Yi Jiao; Zhaoxia Zhang; Pardis C Sabeti; Kun Tang; Shuhua Xu; Li Jin; Sijia Wang
Journal:  Hum Genet       Date:  2015-11-24       Impact factor: 4.132

8.  Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia.

Authors:  Jon Riddell; Chandana Basu Mallick; Guy S Jacobs; Jeffrey J Schoenebeck; Denis J Headon
Journal:  Eur J Hum Genet       Date:  2020-06-04       Impact factor: 4.246

9.  Divergent genetic mechanism leads to spiny hair in rodents.

Authors:  Gislene L Gonçalves; Renan Maestri; Gilson R P Moreira; Marly A M Jacobi; Thales R O Freitas; Hopi E Hoekstra
Journal:  PLoS One       Date:  2018-08-17       Impact factor: 3.240

10.  Pharmacological stimulation of Edar signaling in the adult enhances sebaceous gland size and function.

Authors:  Christine Kowalczyk-Quintas; Sonia Schuepbach-Mallepell; Laure Willen; Terry K Smith; Kenneth Huttner; Neil Kirby; Denis J Headon; Pascal Schneider
Journal:  J Invest Dermatol       Date:  2014-09-10       Impact factor: 8.551
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