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PDE6H gene

Known as: PDE6H, PHOSPHODIESTERASE 6H, cGMP-SPECIFIC, CONE, GAMMA, phosphodiesterase 6H 
National Institutes of Health

Related topics

Related topics

1 relation
phosphoric diester hydrolase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Characterization of Retinal Structure in ATF6-Associated Achromatopsia
Purpose Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6… 
2017
2017
Retinal expression and localization of Mef2c support its important role in photoreceptor gene expression.
2016
2016
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
We report on two brothers with visual impairment, and non-syndromic alopecia in the elder proband. The parents were first-degree… 
2015
2015
Targeted Ablation of the Pde6h Gene in Mice Reveals Cross-species Differences in Cone and Rod Phototransduction Protein Isoform Inventory*
Background: Phosphodiesterase-6 (PDE6) is a multisubunit enzyme essential for visual signal processing. Rare mutations in the… 
2014
2014
Knockdown of a zebrafish aryl hydrocarbon receptor repressor (AHRRa) affects expression of genes related to photoreceptor development and hematopoiesis.
The aryl hydrocarbon receptor repressor (AHRR) is a transcriptional repressor of aryl hydrocarbon receptor (AHR) and hypoxia… 
Highly Cited
2012
Highly Cited
2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
2009
2009
Light-dependent phosphorylation of the gamma subunit of cGMP-phophodiesterase (PDE6gamma) at residue threonine 22 in intact photoreceptor neurons.
Highly Cited
2008
Highly Cited
2008
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
PURPOSE Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduced visual acuity, color… 
2005
2005
A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
1996
1996
Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H).
By comparing lists of 3'-directed partial cDNA sequences (gene signatures) randomly collected from various tissues, genes unique… 
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