Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. (Q36691929)

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8 January 2020

title

Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus (English)

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8 January 2020

0 references

Pingtong Zhou

1

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8 January 2020

Zhiqiang Wang

2

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8 January 2020

Jing Zhang

3

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8 January 2020

Landian Hu

4

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8 January 2020

Xiangyin Kong

5

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8 January 2020

publication date

30 May 2008

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8 January 2020

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8 January 2020

volume

14

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8 January 2020

page(s)

1015-1019

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Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

8 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Eight previously unidentified mutations found in the OA1 ocular albinism gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Linkage analysis of two families with X-linked recessive congenital motor nystagmus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Social and visual function in nystagmus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Mutational analysis of the OA1 gene in ocular albinism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Congenital motor nystagmus linked to Xq26-q27.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

OA1 Mutations and Deletions in X-Linked Ocular Albinism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2408774

Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18523664

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18523664

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mechanisms underlying nystagmus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18523664

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18523664 AND SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

18523664

1 reference