Literature DB >> 17256800

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

Patrick Tarpey1, Trevor J Pemberton, David W Stockton, Parimal Das, Vasiliki Ninis, Sarah Edkins, P Andrew Futreal, Richard Wooster, Sushanth Kamath, Rabindra Nayak, Michael R Stratton, Pragna I Patel.   

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Year:  2007        PMID： 17256800     DOI： 10.1002/ajmg.a.31567

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  15 in total

1.  Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.

Authors:  Marco Garieri; Georgios Stamoulis; Xavier Blanc; Emilie Falconnet; Pascale Ribaux; Christelle Borel; Federico Santoni; Stylianos E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  2018-12-03       Impact factor: 11.205

Review 2.  Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis.

Authors:  Sabine Ruf; Dana Klimas; Mario Hönemann; Sarah Jabir
Journal:  J Orofac Orthop       Date:  2013-07-05       Impact factor: 1.938

3.  Nonsyndromic oligodontia : Does the Tooth Agenesis Code (TAC) enable prediction of the causative mutation?

Authors:  Niko C Bock; Sarah Lenz; Gisela Ruiz-Heiland; Sabine Ruf
Journal:  J Orofac Orthop       Date:  2017-02-15       Impact factor: 1.938

4.  Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.

Authors:  Gabriele Mues; Aubry Tardivel; Laure Willen; Hitesh Kapadia; Robyn Seaman; Sylvia Frazier-Bowers; Pascal Schneider; Rena N D'Souza
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

5.  EDA gene mutations underlie non-syndromic oligodontia.

Authors:  S Song; D Han; H Qu; Y Gong; H Wu; X Zhang; N Zhong; H Feng
Journal:  J Dent Res       Date:  2009-02       Impact factor: 6.116

6.  A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

Authors:  Mahmood Rasool; Jens Schuster; Muhammad Aslam; Muhammad Tariq; Ilyas Ahmad; Amjad Ali; Miriam Entesarian; Niklas Dahl; Shahid Mahmood Baig
Journal:  J Hum Genet       Date:  2008-08-09       Impact factor: 3.172

Review 7.  Genetics and human malformations.

Authors:  Gabriele Mues; Hitesh Kapadia; Ying Wang; Rena N D'Souza
Journal:  J Craniofac Surg       Date:  2009-09       Impact factor: 1.046

8.  The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.

Authors:  Gabriele Mues; John Bonds; Lilin Xiang; Alexandre R Vieira; Figen Seymen; Ophir Klein; Rena N D'Souza
Journal:  Am J Med Genet A       Date:  2014-04-03       Impact factor: 2.802

Review 9.  Multilevel complex interactions between genetic, epigenetic and environmental factors in the aetiology of anomalies of dental development.

Authors:  A H Brook
Journal:  Arch Oral Biol       Date:  2009-11-13       Impact factor: 2.633

10.  Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A).

Authors:  Shufeng Li; Jiahuang Li; Jian Cheng; Bingrong Zhou; Xin Tong; Xiangbai Dong; Zixing Wang; Qingang Hu; Meng Chen; Zi-Chun Hua
Journal:  PLoS One       Date:  2008-06-11       Impact factor: 3.240
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