Eight previously unidentified mutations found in the OA1 ocular albinism gene (Q21093331)

5 August 2022

6

Hélène Dollfus

Hélène

Dollfus

1 reference

5 August 2022

Didier Lacombe

13

Didier

Lacombe

1 reference

5 August 2022

11

Elise Héon

Elise

Héon

1 reference

5 August 2022

10

Alex V Levin

Alex V

Levin

1 reference

5 August 2022

17

Jean-Louis

Dufier

Jean-Louis Dufier

1 reference

5 August 2022

2

Olivier

Roche

Olivier Roche

1 reference

5 August 2022

Hélène Mayeur

1

Hélène

Mayeur

1 reference

5 August 2022

Christelle Vêtu

3

Christelle

Vêtu

1 reference

5 August 2022

Carolina Jaliffa

4

Carolina

Jaliffa

1 reference

5 August 2022

Dominique Marchant

5

Dominique

Marchant

1 reference

5 August 2022

Dominique Bonneau

7

Dominique

Bonneau

1 reference

5 August 2022

Francis L Munier

8

Francis L

Munier

1 reference

5 August 2022

Daniel F Schorderet

9

Daniel F

Schorderet

1 reference

5 August 2022

Joanne Sutherland

12

Joanne

Sutherland

1 reference

5 August 2022

Edith Said

14

Edith

Said

1 reference

5 August 2022

Eedy Mezer

15

Eedy

Mezer

1 reference

5 August 2022

Cécile Marsac

18

Cécile

Marsac

1 reference

5 August 2022

Maurice Menasche

19

Maurice

Menasche

1 reference

5 August 2022

Marc Abitbol

20

Marc

Abitbol

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-7-41

5 August 2022

language of work or name

English

0 references

publication date

2006

0 references

published in

BMC Medical Genetics

0 references

volume

7

0 references

issue

1

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page(s)

41

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exact match

0 references

cites work

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Ocular albinism: evidence for a defect in an intracellular signal transduction system

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

OA1 mutations and deletions in X-linked ocular albinism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Mutational analysis of the OA1 gene in ocular albinism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Deletion in the OA1 gene in a family with congenital X linked nystagmus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Ionizing radiation and genetic risks XIV. Potential research directions in the post-genome era based on knowledge of repair of radiation-induced DNA double-strand breaks in mammalian somatic cells and the origin of deletions associated with human ge

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Structure and function of G protein-coupled receptors

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Nomenclature for the description of human sequence variations.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-7-41

The ocular albinism type 1 (OA1) gene controls melanosome maturation and size

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468396

Macromelanosomes in X-linked ocular albinism

29 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-7-41

21 January 2018

Identifiers

DOI

10.1186/1471-2350-7-41

0 references

release_hk3jlyy3crc7pg74gla2oqfq74

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hk3jlyy3crc7pg74gla2oqfq74