(Q36439306)

14 August 2017

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia (English)

1 reference

14 August 2017

Susanne Roosing

5

0 references

Elfride De Baere

Elfride De Baere

14

0 references

Susanne Kohl

Susanne Kohl

1

0 references

Frauke Coppieters

Frauke Coppieters

2

0 references

Robert Lukowski

11

Robert Lukowski

1 reference

14 August 2017

Françoise Meire

3

1 reference

14 August 2017

Simone Schaich

4

1 reference

14 August 2017

Christina Brennenstuhl

6

1 reference

14 August 2017

Sylvia Bolz

7

1 reference

14 August 2017

Maria M van Genderen

8

1 reference

14 August 2017

Frans C C Riemslag

9

1 reference

14 August 2017

European Retinal Disease Consortium

10

1 reference

14 August 2017

Anneke I den Hollander

12

1 reference

14 August 2017

Frans P M Cremers

13

1 reference

14 August 2017

Carel B Hoyng

15

1 reference

14 August 2017

Bernd Wissinger

16

1 reference

14 August 2017

language of work or name

English

0 references

publication date

16 August 2012

1 reference

American Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

91

1 reference

14 August 2017

527-532

1 reference

14 August 2017

3

1 reference

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Genetic basis of total colourblindness among the Pingelapese islanders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

A phosphodiesterase inhibitor specific to a subset of bovine retinal cones

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Support for the equivalent light hypothesis for RP.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Phototransduction, dark adaptation, and rhodopsin regeneration the proctor lecture.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511981

Characterization of a bovine cone photoreceptor phosphodiesterase purified by cyclic GMP-sepharose chromatography

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22901948

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.07.006

1 reference

14 August 2017

1 reference

14 August 2017

1 reference