(Q33401598)

26 July 2017

title

A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease (English)

1 reference

26 July 2017

6

Frans P M Cremers

1 reference

26 July 2017

Nadia K Waheed

1

1 reference

26 July 2017

Ahmed H Qavi

2

1 reference

26 July 2017

Sarah N Malik

3

1 reference

26 July 2017

Maleeha Maria

4

1 reference

26 July 2017

Moeen Riaz

5

1 reference

26 July 2017

Maleeha Azam

7

1 reference

26 July 2017

Raheel Qamar

8

1 reference

26 July 2017

publication date

12 May 2012

1 reference

26 July 2017

1 reference

26 July 2017

volume

18

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26 July 2017

page(s)

1253-1259

1 reference

Dural Sinus Thrombosis Complicated with Heparin Induced Thrombocytopenia and Thrombosis (HITT).

26 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with primary closed angle glaucoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Hyperhomocysteinemia: a cardiovascular risk factor in autoimmune diseases?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Risk factors for early myocardial infarction in South Asians compared with individuals in other countries

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

The role of beta-arrestins in the termination and transduction of G-protein-coupled receptor signals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

beta-Arrestin 1 and 2 differentially regulate heptahelical receptor signaling and trafficking

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Intron function in the nonsense-mediated decay of beta-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Plasma homocysteine as a risk factor for atherothrombotic events in systemic lupus erythematosus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Study of critically ill patients with systemic lupus erythematosus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Oguchi disease: suggestion of linkage to markers on chromosome 2q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Pseudotumor cerebri associated with cerebral venous sinus thrombosis, internal jugular vein thrombosis, and systemic lupus erythematosus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Beta-arrestin2, a novel member of the arrestin/beta-arrestin gene family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Oguchi disease masked by retinitis pigmentosa.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Risk factors for cardiovascular disease in systemic lupus erythematosus

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Arrestin gene mutations in autosomal recessive retinitis pigmentosa

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3365131

Dural sinus thrombosis: a mechanism for pseudotumor cerebri in systemic lupus erythematosus

31 October 2018

1 reference

12 December 2020

Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene

1 reference

12 December 2020

Rhodopsin phosphorylation and dephosphorylation in vivo

1 reference

12 December 2020

Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination

1 reference

12 December 2020

Arrestin residues involved in the functional binding of arrestin to phosphorylated, photolyzed rhodopsin

1 reference

12 December 2020

Identifiers

PMC publication ID

3365131

1 reference

26 July 2017

1 reference