Literature DB >> 8640214

PAX6 missense mutation in isolated foveal hypoplasia.

N Azuma, S Nishina, H Yanagisawa, T Okuyama, M Yamada.   

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Year:  1996        PMID: 8640214     DOI: 10.1038/ng0696-141

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


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  49 in total

1.  Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding.

Authors:  H E Xu; M A Rould; W Xu; J A Epstein; R L Maas; C O Pabo
Journal:  Genes Dev       Date:  1999-05-15       Impact factor: 11.361

2.  PAX6 expression in the developing human eye.

Authors:  S Nishina; S Kohsaka; Y Yamaguchi; H Handa; A Kawakami; H Fujisawa; N Azuma
Journal:  Br J Ophthalmol       Date:  1999-06       Impact factor: 4.638

3.  Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

Authors:  Noriyuki Azuma; Yuki Yamaguchi; Hiroshi Handa; Keiko Tadokoro; Atsuko Asaka; Eriko Kawase; Masao Yamada
Journal:  Am J Hum Genet       Date:  2003-04-29       Impact factor: 11.025

4.  A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly.

Authors:  Y Nanjo; S Kawasaki; K Mori; C Sotozono; T Inatomi; S Kinoshita
Journal:  Br J Ophthalmol       Date:  2004-05       Impact factor: 4.638

5.  Facilitated DNA search by multidomain transcription factors: cross talk via a flexible linker.

Authors:  Dana Vuzman; Michal Polonsky; Yaakov Levy
Journal:  Biophys J       Date:  2010-08-09       Impact factor: 4.033

6.  Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.

Authors:  M I Othman; S A Sullivan; G L Skuta; D A Cockrell; H M Stringham; C A Downs; A Fornés; A Mick; M Boehnke; D Vollrath; J E Richards
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

7.  Unmeasurable small size of foveal avascular zone without visual impairment in optical coherence tomography angiography.

Authors:  Tatsuro Yokoyama; Ichiro Maruko; Hideki Koizumi; Yutaka Ishikawa; Tomohiro Iida
Journal:  Eye (Lond)       Date:  2018-02-05       Impact factor: 3.775

8.  Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.

Authors:  Hediye Nese Cinar; Andrew D Chisholm
Journal:  Genetics       Date:  2004-11       Impact factor: 4.562

9.  Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

Authors:  Yonatan Perez; Libe Gradstein; Hagit Flusser; Barak Markus; Idan Cohen; Yshaia Langer; Mira Marcus; Tova Lifshitz; Rotem Kadir; Ohad S Birk
Journal:  Eur J Hum Genet       Date:  2013-09-18       Impact factor: 4.246

10.  Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus.

Authors:  Jack Favor; Christian Johannes Gloeckner; Angelika Neuhäuser-Klaus; Walter Pretsch; Rodica Sandulache; Simon Saule; Irmgard Zaus
Journal:  Genetics       Date:  2008-06-18       Impact factor: 4.562

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