(Q24298412)

English

Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy

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scholarly article

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Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy (English)

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Norrin signaling pathway

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Gene Ontology release 2020-05-02

Gene Ontology ID

GOA release 2020-03-11

LDL receptor related protein 5

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GOA release 2020-03-11

Frizzled class receptor 4

1 reference

GOA release 2020-03-11

Norrin cystine knot growth factor NDP

1 reference

GOA release 2020-03-11

exudative vitreoretinopathy

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based on heuristic

inferred from title

author name string

Minghui Qin

1

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Hiroyuki Kondo

2

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Tomoko Tahira

3

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Kenshi Hayashi

4

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language of work or name

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publication date

January 2008

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122

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6

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615-23

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Association of polymorphisms in low-density lipoprotein receptor-related protein 5 gene with bone mineral density in postmenopausal Chinese women.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

WNT and beta-catenin signalling: diseases and therapies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of Norrin-Frizzled4 recognition

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-Linked Recessive Familial Exudative Vitreoretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of an LRP5 cytoplasmic SNP on Wnt signaling and osteoblastic differentiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wnt signaling: multiple pathways, multiple receptors, and multiple transcription factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of bone mass by Wnt signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

LRP5 gene polymorphisms and idiopathic osteoporosis in men.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endothelial nitric oxide synthase (Glu298Asp) polymorphism is an independent risk factor for migraine with aura

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial exudative vitreoretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial exudative vitreoretinopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a Wnt-responsive signal transduction pathway in primary endothelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Association of polymorphism of low density lipoprotein receptor-related protein 5 Q89R, A1330V with bone mineral density in premenopausal northern Chinese women].

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical characterization of Wnt-frizzled interactions using a soluble, biologically active vertebrate Wnt protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

G-protein beta 3 subunit polymorphism C1429T and low-density lipoprotein receptor-related protein 5 polymorphism A1330V are risk factors for hypercholesterolemia in Japanese males--a prospective study over 5 years

1 reference

https://pubmed.ncbi.nlm.nih.gov/17955262

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-007-0438-8

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Dimensions Publication ID

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release_m2jh33to3ncu7nvne2oxpzqox4

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PubMed publication ID

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