List of works - Xianjun Zhu

A Genetic Variant in theSKIV2LGene Is Significantly Associated With Age-Related Macular Degeneration in a Han Chinese Population ⬇️

scientific article published on April 26, 2013

A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration

scientific article

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia

scientific article published on 14 June 2018

A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.

scientific article

A short N-terminal domain of HDAC4 preserves photoreceptors and restores visual function in retinitis pigmentosa

scientific article

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma

scientific article published on 27 February 2017

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma

scientific article

Comparison between recombinant human parathyroid hormone (1-34) and elcatonin in treatment of primary osteoporosis.

scientific article published in January 2015

Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A

scientific article published on 02 June 2020

Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells

scientific article published on 05 September 2018

Distinct functional specificities are associated with protein isoforms encoded by the Drosophila dorsal-ventral patterning gene pipe.

scientific article published on August 2009

Drosophila pipe protein activity in the ovary and the embryonic salivary gland does not require heparan sulfate glycosaminoglycans.

scientific article

ER complex proteins are required for rhodopsin biosynthesis and photoreceptor survival in Drosophila and mice

scientific article published on 01 July 2019

Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective.

scientific article

Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease

scientific article (publication date: 2014)

Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy

scientific article published on 05 July 2019

G-coupled Estrogen Receptor 1 promotes gender disparities in hepatocellular carcinoma via modulation of SIN1 and mTOR complex 2 activity

scientific article published on 01 September 2020

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

scientific article published on 04 September 2020

Mutations in a P-type ATPase gene cause axonal degeneration

scientific article (publication date: 2012)

Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival

scientific article

RNAi-mediated inhibition of gene function in the follicle cell layer of the Drosophila ovary

scientific article published in October 2004

Radiation treatment inhibits monocyte entry into the optic nerve head and prevents neuronal damage in a mouse model of glaucoma

scientific article published on 19 March 2012

Synthesis of the sulfate donor PAPS in either the Drosophila germline or somatic follicle cells can support embryonic dorsal-ventral axis formation

scientific article published on 7 March 2007

TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis

scientific article published on 03 April 2019

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.

scientific article published in February 2018

Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa

scientific article published on 13 February 2018

Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.

scientific article

Tmem30a Plays Critical Roles in Ensuring the Survival of Hematopoietic Cells and Leukemia Cells in Mice

scientific article published on 21 March 2018

Tmem30a deficiency leads to retinal rod bipolar cell degeneration

scientific article published on 15 January 2019

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

scientific article

Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa

scientific article published on 27 September 2016

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

scientific article published on 20 January 2016

List of works by Xianjun Zhu

A Genetic Variant in theSKIV2LGene Is Significantly Associated With Age-Related Macular Degeneration in a Han Chinese Population ⬇️

A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia

A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.

A short N-terminal domain of HDAC4 preserves photoreceptors and restores visual function in retinitis pigmentosa

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma

Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma

Comparison between recombinant human parathyroid hormone (1-34) and elcatonin in treatment of primary osteoporosis.

Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A

Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells

Distinct functional specificities are associated with protein isoforms encoded by the Drosophila dorsal-ventral patterning gene pipe.

Drosophila pipe protein activity in the ovary and the embryonic salivary gland does not require heparan sulfate glycosaminoglycans.

ER complex proteins are required for rhodopsin biosynthesis and photoreceptor survival in Drosophila and mice

Early immune responses are independent of RGC dysfunction in glaucoma with complement component C3 being protective.

Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease

Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy

G-coupled Estrogen Receptor 1 promotes gender disparities in hepatocellular carcinoma via modulation of SIN1 and mTOR complex 2 activity

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

Mutations in a P-type ATPase gene cause axonal degeneration

Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival

RNAi-mediated inhibition of gene function in the follicle cell layer of the Drosophila ovary

Radiation treatment inhibits monocyte entry into the optic nerve head and prevents neuronal damage in a mouse model of glaucoma

Synthesis of the sulfate donor PAPS in either the Drosophila germline or somatic follicle cells can support embryonic dorsal-ventral axis formation

TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.

Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa

Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.

Tmem30a Plays Critical Roles in Ensuring the Survival of Hematopoietic Cells and Leukemia Cells in Mice

Tmem30a deficiency leads to retinal rod bipolar cell degeneration

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

Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa

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