Rhodopsin mutations in Chinese patients with retinitis pigmentosa (Q35321232)

7 August 2017

title

Rhodopsin mutations in Chinese patients with retinitis pigmentosa (English)

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7 August 2017

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Chan WM

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7 August 2017

Yeung KY

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7 August 2017

Pang CP

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7 August 2017

Baum L

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7 August 2017

Lau TC

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7 August 2017

Kwok AK

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7 August 2017

Lam DS

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7 August 2017

language of work or name

English

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publication date

1 September 2001

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British Journal of Ophthalmology

7 August 2017

published in

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7 August 2017

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7 August 2017

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7 August 2017

page(s)

1046-1048

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A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

The cytoplasmic tail of rhodopsin acts as a novel apical sorting signal in polarized MDCK cells

27 July 2018

1 reference

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Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA.

27 July 2018

1 reference

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Retinitis pigmentosa: unfolding its mystery

27 July 2018

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Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin

27 July 2018

1 reference

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Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration

27 July 2018

1 reference

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Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Isolation and nucleotide sequence of the gene encoding human rhodopsin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Regulation of transmembrane signaling by receptor phosphorylation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

On the molecular genetics of retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1724134

Characterization of rhodopsin mis-sorting and constitutive activation in a transgenic rat model of retinitis pigmentosa.

27 July 2018

1 reference

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Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene

26 September 2018

1 reference

12 December 2020

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

1 reference

12 December 2020

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

1 reference

12 December 2020

A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment

1 reference

12 December 2020

Autosomal dominant retinitis pigmentosa. A mutation in codon 181 (Glu-->Lys) of the rhodopsin gene in a Japanese family

1 reference

12 December 2020

Rhodopsin phosphorylation and dephosphorylation in vivo

1 reference

12 December 2020

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347

1 reference

12 December 2020

[A study on the rhodopsin gene in Japanese retinitis pigmentosa--screening of mutation by restriction endonucreases and frequencies of DNA polymorphisms]

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.85.9.1046

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7 August 2017

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7 August 2017

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