Literature DB >> 27669367

Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation.

Ujwala S Saboo1, Devi Penke2, Avinash Mahindrakar2, Madhu Uddaraju2, Chandrasekhar Sankurathri2, Xin Gong1, Chao Xing3, V Vinod Mootha1,2,3.   

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Year:  2016        PMID： 27669367     DOI： 10.1080/13816810.2016.1217549

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


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  3 in total

Review 1.  Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Authors:  Deepti Anand; Smriti A Agrawal; Anne Slavotinek; Salil A Lachke
Journal:  Hum Mutat       Date:  2018-01-16       Impact factor: 4.878

2.  A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.

Authors:  M Krall; S Htun; D Anand; D Hart; S A Lachke; A M Slavotinek
Journal:  Hum Genet       Date:  2018-04-30       Impact factor: 4.132

3.  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
  3 in total

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