(Q34050956)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

Benjamin L. Miller

object named as

Benjamin Miller

4

0 references

author name string

Liron Dvir

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Gassoub Srour

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Rasmi Abu-Ras

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Stavit A Shalev

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Tamar Ben-Yosef

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

language of work or name

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publication date

22 July 2010

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

87

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

258-264

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Complementary interactions of the rod PDE6 inhibitory subunit with the catalytic subunits and transducin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the γ-subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

A novel mutation and phenotypes in phosphodiesterase 6 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Intrinsically disordered -subunit of cGMP phosphodiesterase encodes functionally relevant transient secondary and tertiary structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Focus on molecules: rod cGMP phosphodiesterase type 6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

A proline-rich domain in the gamma subunit of phosphodiesterase 6 mediates interaction with SH3-containing proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Molecular basis of autosomal recessive diseases among the Palestinian Arabs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

G proteins and phototransduction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

The inhibitory gamma subunit of the type 6 retinal cyclic guanosine monophosphate phosphodiesterase is a novel intermediate regulating p42/p44 mitogen-activated protein kinase signaling in human embryonic kidney 293 cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Structural determinants for regulation of phosphodiesterase by a G protein at 2.0 A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

A point mutation (W70A) in the rod PDE-gamma gene desensitizing and delaying murine rod photoreceptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

A catalogue of splice junction sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

5 July 2018

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

28 October 2018

The positive role of the carboxyl terminus of the gamma subunit of retinal cGMP-phosphodiesterase in maintaining phosphodiesterase activity in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

28 October 2018

The gamma-subunit of the rod photoreceptor cGMP-binding cGMP-specific PDE is expressed in mouse lung

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917712

28 October 2018

The prevalence of retinitis pigmentosa and congenital stationary night blindness in Israel

1 reference

https://pubmed.ncbi.nlm.nih.gov/20655036

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.06.016

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

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