Lista de obras - Xianjun Zhu - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Disease Mutation Study Identifies Critical Residues for Phosphatidylserine Flippase ATP11A

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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.

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Lista de obras de Xianjun Zhu

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