Literature DB >> 9683616

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

I Perrault, J M Rozet, S Gerber, R E Kelsell, E Souied, A Cabot, D M Hunt, A Munnich, J Kaplan.   

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Year:  1998        PMID： 9683616      PMCID： PMC1377325          DOI： 10.1086/301985

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  28 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

Review 3.  Photoreceptor guanylate cyclase variants: cGMP production under control.

Authors:  Izabela Sokal; Andrei Alekseev; Krzysztof Palczewski
Journal:  Acta Biochim Pol       Date:  2003       Impact factor: 2.149

4.  The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies.

Authors:  Ricardo Stephen; Krzysztof Palczewski; Marcelo C Sousa
Journal:  J Mol Biol       Date:  2006-04-03       Impact factor: 5.469

Review 5.  Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion.

Authors:  Sukanya Karan; Jeanne M Frederick; Wolfgang Baehr
Journal:  Mol Cell Biochem       Date:  2009-12-09       Impact factor: 3.396

6.  Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1).

Authors:  Igor V Peshenko; Elena V Olshevskaya; Sunghyuk Lim; James B Ames; Alexander M Dizhoor
Journal:  J Biol Chem       Date:  2014-02-24       Impact factor: 5.157

7.  Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque.

Authors:  K Tyler McCullough; Sanford L Boye; Diego Fajardo; Kaitlyn Calabro; James J Peterson; Christianne E Strang; Dibyendu Chakraborty; Sebastian Gloskowski; Scott Haskett; Steven Samuelsson; Haiyan Jiang; C Douglas Witherspoon; Paul D Gamlin; Morgan L Maeder; Shannon E Boye
Journal:  Hum Gene Ther       Date:  2018-12-20       Impact factor: 5.695

8.  Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations.

Authors:  Igor V Peshenko; Elena V Olshevskaya; Suxia Yao; Hany H Ezzeldin; Steven J Pittler; Alexander M Dizhoor
Journal:  Biochemistry       Date:  2010-02-02       Impact factor: 3.162

Review 9.  [Genetic causes of hereditary cone and cone-rod dystrophies].

Authors:  S Kohl
Journal:  Ophthalmologe       Date:  2009-02       Impact factor: 1.059

Review 10.  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
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