Literature DB >> 10676808

Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

M Weigell-Weber, S Fokstuen, B Török, G Niemeyer, A Schinzel, M Hergersberg.   

Abstract

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Year:  2000        PMID： 10676808     DOI： 10.1001/archopht.118.2.300

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  17 in total

Review 1.  Evolution of the membrane guanylate cyclase transduction system.

Authors:  Rameshwar K Sharma
Journal:  Mol Cell Biochem       Date:  2002-01       Impact factor: 3.396

2.  Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy.

Authors:  S E Wilkie; Y Li; E C Deery; R J Newbold; D Garibaldi; J B Bateman; H Zhang; W Lin; D J Zack; S S Bhattacharya; M J Warren; D M Hunt; K Zhang
Journal:  Am J Hum Genet       Date:  2001-07-31       Impact factor: 11.025

3.  Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

Authors:  Morag E Shanks; Susan M Downes; Richard R Copley; Stefano Lise; John Broxholme; Karl Az Hudspith; Alexandra Kwasniewska; Wayne Il Davies; Mark W Hankins; Emily R Packham; Penny Clouston; Anneke Seller; Andrew Om Wilkie; Jenny C Taylor; Jiannis Ragoussis; Andrea H Németh
Journal:  Eur J Hum Genet       Date:  2012-09-12       Impact factor: 4.246

4.  GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.

Authors:  Feng Jiang; Ke Xu; Xiaohui Zhang; Yue Xie; Fengge Bai; Yang Li
Journal:  Doc Ophthalmol       Date:  2015-08-23       Impact factor: 2.379

5.  The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice.

Authors:  Alexander M Dizhoor; Elena V Olshevskaya; Igor V Peshenko
Journal:  J Biol Chem       Date:  2016-10-04       Impact factor: 5.157

6.  GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1.

Authors:  Shinya Sato; Igor V Peshenko; Elena V Olshevskaya; Vladimir J Kefalov; Alexander M Dizhoor
Journal:  J Neurosci       Date:  2018-02-12       Impact factor: 6.167

Review 7.  Retinal diseases linked with photoreceptor guanylate cyclase.

Authors:  Teresa Duda; Karl-Wilhelm Koch
Journal:  Mol Cell Biochem       Date:  2002-01       Impact factor: 3.396

Review 8.  Guanylate cyclases and associated activator proteins in retinal disease.

Authors:  David M Hunt; Prateek Buch; Michel Michaelides
Journal:  Mol Cell Biochem       Date:  2009-11-26       Impact factor: 3.396

9.  AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis.

Authors:  Sanford L Boye; Igor V Peshenko; Wei Chieh Huang; Seok Hong Min; Issam McDoom; Christine N Kay; Xuan Liu; Frank M Dyka; Thomas C Foster; Yumiko Umino; Sukanya Karan; Samuel G Jacobson; Wolfgang Baehr; Alexander Dizhoor; William W Hauswirth; Shannon E Boye
Journal:  Hum Gene Ther       Date:  2013-02       Impact factor: 5.695

10.  Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

Authors:  Veronique B D Kitiratschky; Robert Wilke; Agnes B Renner; Ulrich Kellner; Maria Vadalà; David G Birch; Bernd Wissinger; Eberhart Zrenner; Susanne Kohl
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-05-16       Impact factor: 4.799
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