Literature DB >> 7951329

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

A Gal, U Orth, W Baehr, E Schwinger, T Rosenberg.   

Abstract

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Year:  1994        PMID： 7951329     DOI： 10.1038/ng0894-551a

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


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  15 in total

1.  Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.

Authors:  Xiaoxiao Xu; Alan B Wells; David R O'Brien; Arye Nehorai; Joseph D Dougherty
Journal:  J Neurosci       Date:  2014-01-22       Impact factor: 6.167

2.  Novel mutations in PDE6B causing human retinitis pigmentosa.

Authors:  Lu-Lu Cheng; Ru-Yi Han; Fa-Yu Yang; Xin-Ping Yu; Jin-Ling Xu; Qing-Jie Min; Jie Tian; Xiang-Lian Ge; Si-Si Zheng; Ye-Wen Lin; Yi-Han Zheng; Jia Qu; Feng Gu
Journal:  Int J Ophthalmol       Date:  2016-08-18       Impact factor: 1.779

3.  Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.

Authors:  Eva Nong; Winston Lee; Joanna E Merriam; Rando Allikmets; Stephen H Tsang
Journal:  Doc Ophthalmol       Date:  2013-12-19       Impact factor: 2.379

4.  GNAT1 associated with autosomal recessive congenital stationary night blindness.

Authors:  Muhammad Asif Naeem; Venkata R M Chavali; Shahbaz Ali; Muhammad Iqbal; Saima Riazuddin; Shaheen N Khan; Tayyab Husnain; Paul A Sieving; Radha Ayyagari; Sheikh Riazuddin; J Fielding Hejtmancik; S Amer Riazuddin
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-03-13       Impact factor: 4.799

5.  Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.

Authors:  Christina Brennenstuhl; Naoyuki Tanimoto; Markus Burkard; Rebecca Wagner; Sylvia Bolz; Dragana Trifunovic; Clement Kabagema-Bilan; Francois Paquet-Durand; Susanne C Beck; Gesine Huber; Mathias W Seeliger; Peter Ruth; Bernd Wissinger; Robert Lukowski
Journal:  J Biol Chem       Date:  2015-03-04       Impact factor: 5.157

6.  A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

Authors:  S Amer Riazuddin; Amber Shahzadi; Christina Zeitz; Zubair M Ahmed; Radha Ayyagari; Venkata R M Chavali; Virgilio G Ponferrada; Isabelle Audo; Christelle Michiels; Marie-Elise Lancelot; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Xiaodong Jiao; Ian M MacDonald; Sheikh Riazuddin; Paul A Sieving; Nicholas Katsanis; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2010-09-16       Impact factor: 11.025

7.  Congenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance.

Authors:  S A Kabanarou; G E Holder; F W Fitzke; A C Bird; A R Webster
Journal:  Br J Ophthalmol       Date:  2004-08       Impact factor: 4.638

8.  Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Authors:  Ajoy Vincent; Isabelle Audo; Erika Tavares; Jason T Maynes; Anupreet Tumber; Thomas Wright; Shuning Li; Christelle Michiels; Christel Condroyer; Heather MacDonald; Robert Verdet; José-Alain Sahel; Christian P Hamel; Christina Zeitz; Elise Héon
Journal:  Am J Hum Genet       Date:  2016-04-07       Impact factor: 11.025

9.  A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.

Authors:  Frans Vinberg; Tian Wang; Robert S Molday; Jeannie Chen; Vladimir J Kefalov
Journal:  Hum Mol Genet       Date:  2015-08-05       Impact factor: 6.150

Review 10.  Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.

Authors:  Alexandra V Garafalo; Artur V Cideciyan; Elise Héon; Rebecca Sheplock; Alexander Pearson; Caberry WeiYang Yu; Alexander Sumaroka; Gustavo D Aguirre; Samuel G Jacobson
Journal:  Prog Retin Eye Res       Date:  2019-12-30       Impact factor: 21.198
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