(Q33239006)

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Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

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Europe PubMed Central

PubMed publication ID

24 July 2017

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

object named as

Carmen Ayuso

6

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author name string

María José Gamundi

1

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

Imma Hernan

2

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

María Martínez-Gimeno

3

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

Miquel Maseras

4

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

Blanca García-Sandoval

5

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

Guillermo Antiñolo

7

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

Montserrat Baiget

8

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

Miguel Carballo

9

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

publication date

5 April 2006

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

35

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

RP1 is required for the correct stacking of outer segment discs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Differential occurrence of mutations causative of eye diseases in the Chinese population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in 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=1456953

21 June 2018

Update on the molecular genetics of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 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=1456953

21 June 2018

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Mutations in the RP1 gene causing 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=1456953

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Mutations in a novel retina-specific gene cause 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=1456953

21 June 2018

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Retinitis pigmentosa. The Friedenwald Lecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

On the molecular genetics of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1456953

21 June 2018

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-35

21 January 2018

Molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-35

21 January 2018

RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-35

21 January 2018

RP1 protein truncating mutations predominate at the RP1 adRP locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16597330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16597330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/16597330

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-7-35

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

ResearchGate publication ID

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