List of works - Hao Deng

A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.

scholarly article

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree

scientific article published in January 2002

A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease

scientific article published on 11 September 2018

A susceptibility locus at chromosome 3p21 linked to familial nasopharyngeal carcinoma

scientific article published on 01 March 2004

AFAP1-AS1, a long noncoding RNA upregulated in lung cancer and promotes invasion and metastasis

scientific article published on 6 August 2015

Acute myelitis in a patient with vogt-koyanagi-harada disease: case report and review of the literature.

scientific article published on 3 January 2013

Advances in the Molecular Genetics of Non-syndromic Syndactyly.

scientific article published on June 2015

Advances in the molecular genetics of non-syndromic polydactyly

scientific article

An Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder

An integrative transcriptomic analysis reveals p53 regulated miRNA, mRNA, and lncRNA networks in nasopharyngeal carcinoma.

scientific article published on 13 October 2015

Application of next generation sequencing technology in Mendelian movement disorders

scientific article

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

article

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss

scientific article published on 4 April 2016

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

scientific article

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

scientific article published on 16 June 2021

Decreased NURR1 and PITX3 gene expression in Chinese patients with Parkinson's disease

scientific article published on 06 February 2012

EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease.

scientific article published on 2 April 2013

Effects and mechanisms of action of SARI on androgen-independent prostate cancer (DU145) cells.

scientific article published on 14 October 2016

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

scientific article

Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease.

scientific article

F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease ⬇️

scientific article published on January 1, 2013

Family-Based Analysis Combined with Case-Controls Study Implicate Roles of PCNT in Tourette Syndrome

scientific article published on 31 January 2020

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder

scientific article published on 01 January 2019

Gene dosage analysis of alpha-synuclein (SNCA) in patients with Parkinson's disease

scientific article published on 01 May 2006

Gene expression changes in peripheral blood from chinese han patients with tourette syndrome ⬇️

scientific article published on October 17, 2012

Gene polymorphism of rs556621 but Not rs11984041 is associated with the risk of large artery atherosclerotic stroke in a Xinjiang Uyghur population

scientific article

Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with Parkinson's disease ⬇️

scientific article published on July 25, 2012

Genetic analysis of PITX3 variants in patients with essential tremor.

scientific article published on 4 May 2016

Genetic analysis of the FBXO42 gene in Chinese Han patients with Parkinson's disease

scientific article

Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation

scientific article published on 01 June 2005

Genetic variants and animal models in SNCA and Parkinson disease.

scientific article published on 21 April 2014

Genetics, molecular biology, and phenotypes of x-linked epilepsy

scientific article

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations

scientific article published on 01 February 2006

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors

scientific article published on 12 July 2019

Human Genetic Diseases

scientific article published on 20 May 2015

Identification of TMEM230 mutations in familial Parkinson's disease

scientific journal article

Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa

article

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy

article

Identification of a Heterozygous Mutation in the Gene in a Hui-Chinese Family with Corneal Dystrophy

article

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

scientific article

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

article

Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.

scientific article published on 5 February 2018

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

scientific article published on 11 May 2017

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

scientific article published on 23 January 2017

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing

scientific article published on 13 February 2014

Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome

scientific article published on 23 July 2019

Identification of a novel GJA3 mutation in congenital nuclear cataract.

scientific article published on March 2015

Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing

scientific article published in January 2015

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing

scientific article published on August 2016

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy

scientific article published on 8 November 2017

Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia

scientific article published on 18 August 2021

Identification of novel pathogenic variants in a Han Chinese family with Stargardt disease

article

Identifying a c.5722_5723del mutation in a Han-Chinese family with breast cancer

article

Integrating ChIP-sequencing and digital gene expression profiling to identify BRD7 downstream genes and construct their regulating network

scientific article published on 25 September 2015

LINGO1 variants in essential tremor and Parkinson’s disease ⬇️

scientific article published on 07 April 2011

LPLUNC1 inhibits nasopharyngeal carcinoma cell growth via down-regulation of the MAP kinase and cyclin D1/E2F pathways

scientific article

Long non-coding RNAs in cancer

scientific article published on 12 December 2012

MicroRNA‑133b inhibits connective tissue growth factor in colorectal cancer and correlates with the clinical stage of the disease.

scientific article published on 10 December 2014

Molecular genetics of congenital nuclear cataract.

scientific article published on 30 December 2013

Molecular genetics of the COL2A1-related disorders.

scientific article published on 2 March 2016

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies

scientific article published on 12 September 2018

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease

article

No evidence of association between the LINGO4 gene and essential tremor in Chinese Han patients.

scientific article

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

scientific article published on February 2016

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease

scientific article published on 23 December 2019

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1

scientific article published on 25 July 2018

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease.

scientific article published on 12 April 2018

Response to comment on 'TAp63 suppress metastasis via miR-133b in colon cancer cells'.

scientific article published on December 2014

Role of metabolism in cancer cell radioresistance and radiosensitization methods

scientific article published on 23 April 2018

Role of sphingosine-1-phosphate receptor 1 and sphingosine-1-phosphate receptor 2 in hyperglycemia-induced endothelial cell dysfunction.

scientific article

Senescent endothelial dysfunction is attributed to the up-regulation of sphingosine-1-phosphate receptor-2 in aged rats ⬇️

scientific article published on December 3, 2011

Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease

scientific article published on 05 April 2011

TAp63 suppress metastasis via miR-133b in colon cancer cells

scientific article

TSC22D2 interacts with PKM2 and inhibits cell growth in colorectal cancer.

scientific article published on 4 July 2016

The EIF4G1 gene and Parkinson's disease

scientific journal article

The Role of TMEM230 Gene in Parkinson's Disease

article

The VPS35 gene and Parkinson's disease ⬇️

scientific article published on March 27, 2013

The genetics and molecular biology of fever-associated seizures or epilepsy

scientific article published on 17 April 2018

The genetics of Parkinson disease

scientific article published on 26 December 2017

The genetics of Tourette syndrome

scientific article published on 13 March 2012

The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis

article

The molecular biology of genetic-based epilepsies.

scientific article published on 10 August 2013

The role of the ATP2C1 gene in Hailey-Hailey disease.

scientific article

Upregulated long non-coding RNA LINC00152 expression is associated with progression and poor prognosis of tongue squamous cell carcinoma.

scientific article published on 11 February 2017

[Essential tremor: genetic update]

scientific article published on 10 December 2019

[Senescent endothelial dysfunctions were mediated by S1P2 receptor in cultured human umbilical vein endothelial cells]

scientific article published on 01 December 2012

List of works by Hao Deng

A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree

A novel splice-site mutation in the ATP2C1 gene of a Chinese family with Hailey-Hailey disease

A susceptibility locus at chromosome 3p21 linked to familial nasopharyngeal carcinoma

AFAP1-AS1, a long noncoding RNA upregulated in lung cancer and promotes invasion and metastasis

Acute myelitis in a patient with vogt-koyanagi-harada disease: case report and review of the literature.

Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Advances in the molecular genetics of non-syndromic polydactyly

An Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder

An integrative transcriptomic analysis reveals p53 regulated miRNA, mRNA, and lncRNA networks in nasopharyngeal carcinoma.

Application of next generation sequencing technology in Mendelian movement disorders

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

Decreased NURR1 and PITX3 gene expression in Chinese patients with Parkinson's disease

EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease.

Effects and mechanisms of action of SARI on androgen-independent prostate cancer (DU145) cells.

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease.

F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease ⬇️

Family-Based Analysis Combined with Case-Controls Study Implicate Roles of PCNT in Tourette Syndrome

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder

Gene dosage analysis of alpha-synuclein (SNCA) in patients with Parkinson's disease

Gene expression changes in peripheral blood from chinese han patients with tourette syndrome ⬇️

Gene polymorphism of rs556621 but Not rs11984041 is associated with the risk of large artery atherosclerotic stroke in a Xinjiang Uyghur population

Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with Parkinson's disease ⬇️

Genetic analysis of PITX3 variants in patients with essential tremor.

Genetic analysis of the FBXO42 gene in Chinese Han patients with Parkinson's disease

Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation

Genetic variants and animal models in SNCA and Parkinson disease.

Genetics, molecular biology, and phenotypes of x-linked epilepsy

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors

Human Genetic Diseases

Identification of TMEM230 mutations in familial Parkinson's disease

Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy

Identification of a Heterozygous Mutation in the Gene in a Hui-Chinese Family with Corneal Dystrophy

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing

Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome

Identification of a novel GJA3 mutation in congenital nuclear cataract.

Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy

Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia

Identification of novel pathogenic variants in a Han Chinese family with Stargardt disease

Identifying a c.5722_5723del mutation in a Han-Chinese family with breast cancer

Integrating ChIP-sequencing and digital gene expression profiling to identify BRD7 downstream genes and construct their regulating network

LINGO1 variants in essential tremor and Parkinson’s disease ⬇️

LPLUNC1 inhibits nasopharyngeal carcinoma cell growth via down-regulation of the MAP kinase and cyclin D1/E2F pathways

Long non-coding RNAs in cancer

MicroRNA‑133b inhibits connective tissue growth factor in colorectal cancer and correlates with the clinical stage of the disease.

Molecular genetics of congenital nuclear cataract.

Molecular genetics of the COL2A1-related disorders.

Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease

No evidence of association between the LINGO4 gene and essential tremor in Chinese Han patients.

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease.

Response to comment on 'TAp63 suppress metastasis via miR-133b in colon cancer cells'.

Role of metabolism in cancer cell radioresistance and radiosensitization methods

Role of sphingosine-1-phosphate receptor 1 and sphingosine-1-phosphate receptor 2 in hyperglycemia-induced endothelial cell dysfunction.

Senescent endothelial dysfunction is attributed to the up-regulation of sphingosine-1-phosphate receptor-2 in aged rats ⬇️

Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease

TAp63 suppress metastasis via miR-133b in colon cancer cells

TSC22D2 interacts with PKM2 and inhibits cell growth in colorectal cancer.

The EIF4G1 gene and Parkinson's disease

The Role of TMEM230 Gene in Parkinson's Disease

The VPS35 gene and Parkinson's disease ⬇️