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30 in total

1. Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

Authors: Vanita Vanita; Gao Guo; Daljit Singh; Claus-Eric Ott; Peter N Robinson
Journal: Mol Cell Biochem Date: 2014-07-27 Impact factor: 3.396

Review 2. Genetics of anterior segment dysgenesis disorders.

Authors: Linda M Reis; Elena V Semina
Journal: Curr Opin Ophthalmol Date: 2011-09 Impact factor: 3.761

3. A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.

Authors: E Pras; O Mahler; V Kumar; M Frydman; N Gefen; E Pras; J F Hejtmancik
Journal: J Med Genet Date: 2006-10 Impact factor: 6.318

Review 4. 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

5. Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.

Authors: Manèl Chograni; Myriam Chaabouni; Imen Chelly; Mohamed Bechir Helayem; Habiba Chaabouni-Bouhamed
Journal: Mol Vis Date: 2010-04-03 Impact factor: 2.367

6. Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).

Authors: Zhou Zhou; Shanshan Hu; Binbin Wang; Nan Zhou; Shiyi Zhou; Xu Ma; Yanhua Qi
Journal: Mol Vis Date: 2010-04-21 Impact factor: 2.367

Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).

1. Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

Review 2. Genetics of anterior segment dysgenesis disorders.

3. A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.

Review 4. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

5. Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.

6. Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).

7. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.

8. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

9. A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.

10. Posterior polar cataract: A review.