List of works - Yuan Yang

A case of lipoprotein glomerulopathy with thrombotic microangiopathy due to malignant hypertension

scientific article

A new mutant transcript generated in Znf230 exon 2 knockout mice reveals a potential exon structure in the targeting vector sequence.

scientific article published on 28 November 2012

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.

scientific article

A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome.

scientific article published on 17 February 2014

A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy

scientific article

A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation

scientific article published on 18 September 2020

A single nucleotide polymorphism in a miR-1302 binding site in CGA increases the risk of idiopathic male infertility.

scientific article published on 20 May 2011

Absence of the H2AX mutations in idiopathic infertile men with spermatogenic impairment.

scientific article

An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.

scientific article

Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia.

scientific article

Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese

scientific article published on 01 March 2013

Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes

scientific article published in December 2009

DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men

scientific article published on 01 March 2006

Demethylation of CpG islands in the 5' upstream regions mediates the expression of the human testis-specific gene MAGEB16 and its mouse homolog Mageb16.

scientific article

Epigenetic modifications promote the expression of the orphan nuclear receptor NR0B1 in human lung adenocarcinoma cells.

scientific article published on 26 April 2016

Evidence for a predisposing background for CAG expansion leading to HTT mutation in a Chinese population ⬇️

scientific article published on November 15, 2010

Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population

scientific article published on 21 December 2007

Genetic Variants of SNCA Are Associated with Susceptibility to Parkinson's Disease but Not Amyotrophic Lateral Sclerosis or Multiple System Atrophy in a Chinese Population

scientific article published on 24 July 2015

Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation.

scientific article published on 11 September 2013

High risk genetic factor in Chinese patients with idiopathic male infertility: deletion of DAZ gene copy on Y chromosome

scientific article published on 01 July 2004

Identical twins:one with anti-glomerular basement membrane glomerulonephritis,the other with systemic lupus erythematosus.

scientific article

Identification and functional analysis of a testis-specific E3 ubiquitin ligase gene Rnf148 in mouse

scientific article published in January 2014

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

scientific article

Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest

scientific article published on 18 September 2007

Microarray profiling of microRNAs expressed in testis tissues of developing primates.

scientific article published on 26 February 2009

Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy

scientific article published on 18 September 2014

Mutation screening and association study of the TSSK4 Gene in Chinese infertile men with impaired spermatogenesis.

scientific article

Nested coamplification polymerase chain reaction

scientific article published in August 2002

Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population.

scientific article published on 2 April 2009

Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men

scientific article published on 01 April 2006

SNCA variants rs2736990 and rs356220 as risk factors for Parkinson's disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population

scientific article published on 18 July 2014

Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia

scientific article published on 04 August 2006

Single-nucleotide polymorphism rs2290692 in the 3'UTR of ITPKC associated with susceptibility to Kawasaki disease in a Han Chinese population.

scientific article published on 24 February 2012

Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men.

scientific article

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

scientific article

Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI

scientific article

Study on the distribution of Y chromosome haplogroups in Sichuan Han population

scientific article

Targeted disruption of the mouse testis-enriched gene Znf230 does not affect spermatogenesis or fertility

scientific article

Testis-specific protein, Y-linked 1 activates PI3K/AKT and RAS signaling pathways through suppressing IGFBP3 expression during tumor progression

scientific article published on 25 March 2019

The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.

scientific article published on 2 February 2018

The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.

scientific article

Y chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment

scientific article published on 25 June 2008

[Fluorescence probe two-hybridization technique and its application in medical genechips]

scientific article published on 01 April 2002

[Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease]

scientific article published on 01 October 2011

[Studies on molecular epidemiology of Y chromosome azoospermia factor microdeletions in Chinese patients with idiopathic azoospermia or severe oligozoospermia]

scientific article published on 01 October 2003

[Y chromosome variations and male infertility]

scientific article published on 01 June 2010

[c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity]

scientific article published on 01 February 2015

List of works by Yuan Yang

A case of lipoprotein glomerulopathy with thrombotic microangiopathy due to malignant hypertension

A new mutant transcript generated in Znf230 exon 2 knockout mice reveals a potential exon structure in the targeting vector sequence.

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.

A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome.

A rare case of unilateral adrenal hyperplasia accompanied by hypokalaemic periodic paralysis caused by a novel dominant mutation in CACNA1S: features and prognosis after adrenalectomy

A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation

A single nucleotide polymorphism in a miR-1302 binding site in CGA increases the risk of idiopathic male infertility.

Absence of the H2AX mutations in idiopathic infertile men with spermatogenic impairment.

An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.

Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia.

Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese

Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes

DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men

Demethylation of CpG islands in the 5' upstream regions mediates the expression of the human testis-specific gene MAGEB16 and its mouse homolog Mageb16.

Epigenetic modifications promote the expression of the orphan nuclear receptor NR0B1 in human lung adenocarcinoma cells.

Evidence for a predisposing background for CAG expansion leading to HTT mutation in a Chinese population ⬇️

Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population

Genetic Variants of SNCA Are Associated with Susceptibility to Parkinson's Disease but Not Amyotrophic Lateral Sclerosis or Multiple System Atrophy in a Chinese Population

Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation.

High risk genetic factor in Chinese patients with idiopathic male infertility: deletion of DAZ gene copy on Y chromosome

Identical twins:one with anti-glomerular basement membrane glomerulonephritis,the other with systemic lupus erythematosus.

Identification and functional analysis of a testis-specific E3 ubiquitin ligase gene Rnf148 in mouse

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest

Microarray profiling of microRNAs expressed in testis tissues of developing primates.

Mutation scanning of the COQ2 gene in ethnic Chinese patients with multiple-system atrophy

Mutation screening and association study of the TSSK4 Gene in Chinese infertile men with impaired spermatogenesis.

Nested coamplification polymerase chain reaction

Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population.

Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men

SNCA variants rs2736990 and rs356220 as risk factors for Parkinson's disease but not for amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population

Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia

Single-nucleotide polymorphism rs2290692 in the 3'UTR of ITPKC associated with susceptibility to Kawasaki disease in a Han Chinese population.

Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men.

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI

Study on the distribution of Y chromosome haplogroups in Sichuan Han population

Targeted disruption of the mouse testis-enriched gene Znf230 does not affect spermatogenesis or fertility

Testis-specific protein, Y-linked 1 activates PI3K/AKT and RAS signaling pathways through suppressing IGFBP3 expression during tumor progression

The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.

The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.

Y chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment

[Fluorescence probe two-hybridization technique and its application in medical genechips]

[Identification of mutations in PKD1 and PKD2 genes in two Chinese families with autosomal dominant polycystic kidney disease]

[Studies on molecular epidemiology of Y chromosome azoospermia factor microdeletions in Chinese patients with idiopathic azoospermia or severe oligozoospermia]

[Y chromosome variations and male infertility]

[c.2381-3T>C mutation of DMD gene: a rare SNP without significant pathogenicity]