(Q37429002)

20 August 2017

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

1 reference

20 August 2017

1 reference

Bo Chang

1

1 reference

20 August 2017

Tanja Grau

2

1 reference

20 August 2017

Susann Dangel

3

1 reference

20 August 2017

Ron Hurd

4

1 reference

20 August 2017

Bernhard Jurklies

5

1 reference

20 August 2017

E Cumhur Sener

6

1 reference

20 August 2017

Sten Andreasson

7

1 reference

20 August 2017

Helene Dollfus

8

1 reference

20 August 2017

Britta Baumann

9

1 reference

20 August 2017

Sylvia Bolz

10

1 reference

20 August 2017

Nikolai Artemyev

11

1 reference

20 August 2017

Susanne Kohl

12

1 reference

20 August 2017

John Heckenlively

13

1 reference

20 August 2017

Bernd Wissinger

14

1 reference

20 August 2017

language of work or name

English

0 references

publication date

3 November 2009

1 reference

Proceedings of the National Academy of Sciences of the United States of America

20 August 2017

1 reference

20 August 2017

106

1 reference

20 August 2017

46

1 reference

20 August 2017

19581-19586

1 reference

HDAC4 regulates neuronal survival in normal and diseased retinas

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Photoreceptor cell death mechanisms in inherited retinal degeneration.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Rod and cone photoreceptors: molecular basis of the difference in their physiology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: a morphological and ERG study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Progressive cone dystrophy associated with mutation in CNGB3.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Structure of the catalytic domain of human phosphodiesterase 5 with bound drug molecules

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Retinal degeneration mutants in the mouse

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

CNGA3 mutations in hereditary cone photoreceptor disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

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.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Genetic basis of total colourblindness among the Pingelapese islanders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Atomic structure of PDE4: insights into phosphodiesterase mechanism and specificity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Probing domain functions of chimeric PDE6alpha'/PDE5 cGMP-phosphodiesterase.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Caspase-independent photoreceptor apoptosis in mouse models of retinal degeneration.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Clinical features of achromatopsia in Swedish patients with defined genotypes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Mutation of cGMP phosphodiesterase 6alpha'-subunit gene causes progressive degeneration of cone photoreceptors in zebrafish.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

A mutation in the cone-specific pde6 gene causes rapid cone photoreceptor degeneration in zebrafish.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2780790

Calcium overload triggers rod photoreceptor apoptotic cell death in chemical-induced and inherited retinal degenerations

2 September 2018

1 reference

12 December 2020

Identification of the gamma subunit-interacting residues on photoreceptor cGMP phosphodiesterase, PDE6alpha '

1 reference

12 December 2020

Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes

1 reference

12 December 2020

Mutational analysis of functional interfaces of transducin

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0907720106

1 reference

20 August 2017

0 references

1 reference

20 August 2017

1 reference