Xiong Zhu

Sichuan Provincial Key Laboratory For Human Disease Gene Study
Chengdu, China

Last Updated: 09/26/2026

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Found 16 publications

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.

Journal: The Journal of clinical investigation
Published: May 04, 2020

Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.

Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.

Journal: Genetic testing and molecular biomarkers
Published: January 31, 2020

Loss of the ER membrane protein complex subunit Emc3 leads to retinal bipolar cell degeneration in aged mice.

Loss of the ER membrane protein complex subunit Emc3 leads to retinal bipolar cell degeneration in aged mice.

Journal: PloS one
Published: January 19, 2020

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Journal: Molecular medicine reports
Published: October 19, 2019

Loss of Tmem30a leads to photoreceptor degeneration.

Loss of Tmem30a leads to photoreceptor degeneration.

Journal: Scientific reports
Published: April 21, 2017

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.

Journal: Yi chuan = Hereditas
Published: April 20, 2017

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

Journal: Genetic testing and molecular biomarkers
Published: May 27, 2016

A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.

A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.

Journal: Nature genetics
Published: December 30, 2015

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.

Journal: Scientific reports
Published: August 21, 2015

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.

Journal: Scientific reports
Published: July 17, 2015

Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.

Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.

Journal: Journal of human genetics
Published: March 30, 2015

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.

Journal: Molecular vision
Published: March 30, 2014
Showing 1-12 of 16

Last Updated: 09/26/2026