Literature DB >> 24689660

Mutational screening of FOXE3, GDF3, ATOH7, and ALDH1A3 in congenital ocular malformations. Possible contribution of the FOXE3 p.VAL201MET variant to the risk of severe eye malformations.

Ivan A Garcia-Montalvo1, Erika Pelcastre-Luna, Janikua Nelson-Mora, Beatriz Buentello-Volante, Antonio Miranda-Duarte, Juan C Zenteno.   

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Year:  2014        PMID: 24689660     DOI: 10.3109/13816810.2014.903983

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


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  5 in total

1.  AP-2β is required for formation of the murine trabecular meshwork and Schlemm's canal.

Authors:  Monica Akula; Aftab Taiyab; Paula Deschamps; Shannin Yee; Alexander K Ball; Trevor Williams; Judith A West-Mays
Journal:  Exp Eye Res       Date:  2020-04-27       Impact factor: 3.467

Review 2.  Relationship between neural crest cell specification and rare ocular diseases.

Authors:  Monica Akula; Jeong Won Park; Judith A West-Mays
Journal:  J Neurosci Res       Date:  2018-04-16       Impact factor: 4.164

3.  A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.

Authors:  Tanya Bardakjian; Max Krall; Di Wu; Richard Lao; Paul Ling-Fung Tang; Eunice Wan; Sarina Kopinsky; Adele Schneider; Pui-Yan Kwok; Anne Slavotinek
Journal:  Am J Ophthalmol Case Rep       Date:  2017-06-21

4.  Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile Polymorphisms with Congenital Cataract and Microphthalmia.

Authors:  Nair Gopinathan Vidya; Darshini Ganatra; Abhay R Vasavada; Sankaranarayanan Rajkumar
Journal:  J Ophthalmic Vis Res       Date:  2018 Oct-Dec

5.  Transcriptome analysis of the zebrafish atoh7-/- Mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases.

Authors:  Giuseppina Covello; Fernando J Rossello; Michele Filosi; Felipe Gajardo; Anne-Laure Duchemin; Beatrice F Tremonti; Michael Eichenlaub; Jose M Polo; David Powell; John Ngai; Miguel L Allende; Enrico Domenici; Mirana Ramialison; Lucia Poggi
Journal:  FASEB Bioadv       Date:  2020-06-27
  5 in total

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