A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus (Q33867624)

29 July 2017

title

A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus (English)

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29 July 2017

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Guillonneau X

1

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29 July 2017

Piriev NI

2

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29 July 2017

Danciger M

3

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29 July 2017

Kozak CA

4

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29 July 2017

Cideciyan AV

5

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29 July 2017

Jacobson SG

6

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29 July 2017

Farber DB

7

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29 July 2017

publication date

1 August 1999

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29 July 2017

language of work or name

English

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published in

Human Molecular Genetics

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29 July 2017

volume

8

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29 July 2017

issue

8

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29 July 2017

page(s)

1541-1546

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Identification of genes causing photoreceptor degenerations leading to blindness

29 July 2017

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1541

Retinitis pigmentosa: defined from a molecular point of view

21 January 2018

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Molecular genetics of human retinal dystrophies

21 January 2018

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Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1541

Ca2+ and Mn2+ influx through receptor-mediated activation of nonspecific cation channels in mast cells

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1541

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

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Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

21 January 2018

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Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

21 January 2018

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Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells

21 January 2018

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Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

21 January 2018

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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

21 January 2018

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Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration

21 January 2018

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The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1541

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

21 January 2018

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A type VII myosin encoded by the mouse deafness gene shaker-1

21 January 2018

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Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

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A candidate gene for the mouse mutation tubby

21 January 2018

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Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases

21 January 2018

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Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

21 January 2018

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TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

21 January 2018

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Prolonged photoresponses in transgenic mouse rods lacking arrestin

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1541

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

21 January 2018

1 reference

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Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1541

The mouse homolog of the Gibbon ape leukemia virus receptor: genetic mapping and a possible receptor function in rodents

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1541

21 January 2018

Identifiers

DOI

10.1093/HMG/8.8.1541

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29 July 2017

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