Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. (Q35793596)

10 August 2017

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title

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. (English)

1 reference

10 August 2017

1

Stephen P Daiger

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10 August 2017

Lori S Sullivan

2

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10 August 2017

Sara J Bowne

3

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10 August 2017

Avril Kennan

4

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10 August 2017

Peter Humphries

5

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10 August 2017

David G Birch

6

1 reference

10 August 2017

John R Heckenlively

7

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10 August 2017

RP1 Consortium

8

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10 August 2017

language of work or name

English

0 references

publication date

1 January 2003

1 reference

Advances in Experimental Medicine and Biology

10 August 2017

published in

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10 August 2017

volume

533

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10 August 2017

page(s)

1-11

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Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene

10 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=2583078

A novel mutation of the RP1 gene (Lys778ter) associated 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=2583078

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

Mutations in a novel retina-specific gene cause 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=2583078

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause 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=2583078

Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

Linkage analysis of five pedigrees affected with typical 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=2583078

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of 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=2583078

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

Regulation of the human inosine monophosphate dehydrogenase type I gene. Utilization of alternative promoters

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2583078

RP1 protein truncating mutations predominate at the RP1 adRP locus

25 September 2018

1 reference

12 December 2020

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1)

1 reference

12 December 2020

Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig

1 reference

12 December 2020

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q

1 reference

12 December 2020

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

1 reference

12 December 2020

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

1 reference

12 December 2020

The roles of conserved carboxylate residues in IMP dehydrogenase and identification of a transition state analog

1 reference

12 December 2020

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

1 reference

12 December 2020

10.1007/978-1-4615-0067-4_1

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference