A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease. (Q34410786)

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18 January 2020

title

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease (English)

1 reference

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18 January 2020

author name string

Deyuan Liu

1

1 reference

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18 January 2020

Zhengmao Hu

2

1 reference

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18 January 2020

Yu Peng

3

1 reference

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18 January 2020

Changhong Yu

4

1 reference

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18 January 2020

Yalan Liu

5

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18 January 2020

Xiaoyun Mo

6

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18 January 2020

Xiaoping Li

7

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18 January 2020

Lina Lu

8

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18 January 2020

Xiaojuan Xu

9

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18 January 2020

Wei Su

10

1 reference

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18 January 2020

Qian Pan

11

1 reference

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18 January 2020

Kun Xia

12

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18 January 2020

publication date

8 December 2010

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18 January 2020

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18 January 2020

volume

16

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18 January 2020

page(s)

2653-2658

1 reference

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Norrin mediates neuroprotective effects on retinal ganglion cells via activation of the Wnt/beta-catenin signaling pathway and the induction of neuroprotective growth factors in Muller cells.

18 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=3002970

Wnt signaling: Ig-norrin the dogma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Mathematical multi-locus approaches to localizing complex human trait genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Norrie disease gene: characterization of deletions and possible function.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Mutations in the Norrie disease gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Isolation of a candidate gene for Norrie disease by positional cloning

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Fluorescein angiographic findings in familial exudative vitreoretinopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Norrie's disease--differential diagnosis and treatment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

NDP gene mutations in 14 French families with Norrie disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Familial exudative vitreoretinopathy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002970

Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration

27 October 2018

1 reference

12 December 2020

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome

1 reference

12 December 2020

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes

1 reference

12 December 2020

Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21179243%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference