Varaico: Literature-Extracted Genetic Variants

Gene:NDP
Variant:p.C95R
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NDP

NM_000266.4:p.C95R

Associated Papers

Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.

Liu M et al.

Investigative Ophthalmology & Visual Science, 2024

Selective Activation of the Wnt-Signaling Pathway as a Novel Therapy for the Treatment of Diabetic Retinopathy and Other Retinal Vascular Diseases.

Nguyen H et al.

Pharmaceutics, 2022

Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.

Wawrzynski J et al.

Frontiers in Genetics, 2022

Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.

Younes ST et al.

Ophthalmic Genetics, 2021

TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling.

Lai MB et al.

Cell Reports, 2017

Familial cases of Norrie disease detected by copy number analysis.

Arai E et al.

Japanese Journal of Ophthalmology, 2014

Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.

Zuercher J et al.

Human Molecular Genetics, 2012

TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.

Junge HJ et al.

Cell, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."