(Q42605746)

English

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.

scientific article published on August 2003

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12914764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12914764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

photoreceptor protein

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Francesca Simonelli

5

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6 November 2019

Francesco Testa

4

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6 November 2019

11

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6 November 2019

author name string

Giovanni Lavorgna

1

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6 November 2019

Marta Lestingi

2

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6 November 2019

Carmela Ziviello

3

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6 November 2019

Maria Pia Manitto

6

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6 November 2019

Rosario Brancato

7

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6 November 2019

Maurizio Ferrari

8

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6 November 2019

Ernesto Rinaldi

9

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6 November 2019

Alfredo Ciccodicola

10

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6 November 2019

language of work or name

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publication date

1 August 2003

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6 November 2019

Biochemical and Biophysical Research Communications

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6 November 2019

308

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6 November 2019

3

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6 November 2019

414-421

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6 November 2019

Molecular genetics of human retinal disease

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Recent advances in the molecular basis of inherited photoreceptor degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Human retinoblastoma susceptibility gene: cloning, identification, and sequence.

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Cloning of a gene that is rearranged in patients with choroideraemia

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 2

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Positional cloning of the gene associated with X-linked juvenile retinoschisis

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Identification of the gene responsible for Best macular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE).

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

EST mining of the UniGene dataset to identify retina-specific genes

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes.

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Complementary domains of retinoic acid production and degradation in the early chick embryo

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Interpreting cDNA sequences: some insights from studies on translation

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Sequence and structure-based prediction of eukaryotic protein phosphorylation sites

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Predicting coiled coils from protein sequences

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

A knowledge base for predicting protein localization sites in eukaryotic cells

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

The PROSITE database, its status in 1999

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

PRINTS-S: the database formerly known as PRINTS.

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Increased coverage of protein families with the blocks database servers

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

The Pfam protein families database.

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

ProDom and ProDom-CG: tools for protein domain analysis and whole genome comparisons

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32.

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2803%2901410-4

7 January 2021

Identifiers

10.1016/S0006-291X(03)01410-4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12914764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

release_zjq4t3osejbffa7udp47pqzzfq

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https://api.fatcat.wiki/v0/release/zjq4t3osejbffa7udp47pqzzfq

24 November 2022

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mapped directly with Wikidata item

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12914764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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