Q. Pan

发表

Common genetic variants on 1p13.2 associate with risk of autism

Z. Hu, D. St. Clair, Y. Hu, 2014, Molecular Psychiatry.

The Transfection Efficiency Improvement of hrDNA Targeting Vectors With NLS Peptide*: The Transfection Efficiency Improvement of hrDNA Targeting Vectors With NLS Peptide*

Q. Pan, D. Liang, Yan Shi, 2009 .

In vitro Efficacy of mda-7 Gene for Hepatocellular Carcinoma Gene Therapy Mediated by Human Ribosomal DNA Targeting Vector

K. Xia, Q. Pan, D. Liang, 2009 .

Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia

K. Xia, Q. Pan, H. Dai, 2006, Journal of the Neurological Sciences.

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population

Wei Li, K. Xia, Z. Xiong, 2012, Human Genetics.

Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population

Li Zhang, K. Xia, Q. Pan, 2012, Neuroscience Letters.

The combination of suicide gene therapy and radiation enhances the killing of nasopharyngeal carcinoma xenographs.

A. Tang, K. Xia, Q. Pan, 2004, Journal of radiation research.

A novel fusion suicide gene yeast CDglyTK plays a role in radio-gene therapy of nasopharyngeal carcinoma

A. Tang, K. Xia, Q. Pan, 2004, Cancer Gene Therapy.

Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.

K. Xia, Q. Pan, D. Liang, 2005, Acta biochimica et biophysica Sinica.

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum

N. Niikawa, K. Xia, Q. Pan, 2007, Journal of Human Genetics.

FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients

K. Xia, Q. Pan, B. Tang, 2010, Neuroscience Letters.

Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China

K. Xia, Q. Pan, X. Yan, 2016, Clinical genetics.

Spinocerebellar ataxia type 11 in the Chinese Han population

K. Xia, Q. Pan, B. Tang, 2010, Neurological Sciences.

Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han

K. Xia, Q. Pan, B. Tang, 2008, Journal of Genetics.

Spinocerebellar ataxia type 6 in Mainland China: Molecular and clinical features in four families

Q. Pan, B. Tang, Hong Jiang, 2005, Journal of the Neurological Sciences.

Spinocerebellar ataxia type 21 exists in the Chinese Han population

K. Xia, Q. Pan, B. Tang, 2016, Scientific Reports.

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

K. Xia, Q. Pan, H. Dai, 2004, Archives of neurology.

Identification and characterization of human neuronal voltage-gated calcium channel gamma 3 subunit gene

Q. Pan, H. Dai, J. Xia, 2000 .

Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings

K. Xia, Q. Pan, B. Tang, 2009, Movement disorders : official journal of the Movement Disorder Society.

Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

K. Xia, Q. Pan, B. Tang, 2009, Journal of the Neurological Sciences.

PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort

K. Xia, Q. Pan, B. Tang, 2011, Neurology.

A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L

K. Xia, Q. Pan, B. Tang, 2014, Neural regeneration research.

Homozygous loss‐of‐function mutation of the LEPREL1 gene causes severe non‐syndromic high myopia with early‐onset cataract

Y. Zheng, K. Xia, Q. Pan, 2014, Clinical genetics.

Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

C. Chen, Q. Pan, D. Liang, 2016, BMC Medical Genetics.

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.

Q. Pan, W. Su, D. Liang, 2015, Clinica chimica acta; international journal of clinical chemistry.

GIGYF1 disruption associates with autism and impaired IGF-1R signaling

E. Eichler, D. M. Martin, R. Earl, 2022, The Journal of clinical investigation.

Mutation Analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia

K. Xia, Q. Pan, B. Tang, 2009, Journal of Clinical Neuroscience.

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

K. Xia, Q. Pan, Biao Chen, 2005, Archives of neurology.

Mutation and Clinical Characteristics of Autosomal-Dominant Hereditary Spastic Paraplegias in China

K. Xia, Q. Pan, B. Tang, 2014, Neurodegenerative Diseases.

A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions

K. Xia, Q. Pan, B. Tang, 2003, Epilepsy Research.

[The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].

K. Xia, Q. Pan, B. Tang, 2005, Zhonghua yi xue za zhi.

Mutation Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

K. Xia, Q. Pan, Zhengmao Hu, 2010, The International journal of neuroscience.

Efficient Derivation of Mesenchymal Stem Cells and Neural Precursor Cells from Human Embryonic Stem Cells through Teratoma Formation

Qiao Zeng, G. Fan, K. Xia, 2008 .

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

C. Chen, Q. Pan, D. Liang, 2015, Gene.

Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.

Q. Pan, D. Liang, Lingqian Wu, 2015, Gene.

[Biotoxicology and biodynamics of silica nanoparticle].

K. Xia, Q. Pan, D. Liang, 2006, Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences.

Cx31 is assembled and trafficked to cell surface by ER-Golgi pathway and degraded by proteasomal or lysosomal pathways

K. Xia, Q. Pan, D. Liang, 2005, Cell Research.

Trafficking abnormality and ER stress underlie functional deficiency of hearing impairmentassociated connexin-31 mutants

K. Xia, Q. Pan, Zhuohua Zhang, 2010, Protein & Cell.

Transcriptional Regulation of The Alzheimer's Disease-related Gene, Nicastrin *: Transcriptional Regulation of The Alzheimer's Disease-related Gene, Nicastrin *

K. Xia, Q. Pan, Zhigao Long, 2009 .

[Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants].

K. Xia, Q. Pan, Zhengmao Hu, 2009, Yi chuan = Hereditas.

Identify female carriers and de novo mutations in deletional Duchenne/Becker muscular dystrophy families.

Q. Pan, D. Liang, Ling-Qian Wu, 2006, Yi chuan xue bao = Acta genetica Sinica.

Novel missense mutation in the COL3A1 gene caused vascular Ehlers–Danlos syndrome in a Chinese family

K. Xia, Q. Pan, Zhengmao Hu, 2015, The Journal of dermatology.

Two Novel SNPs in ATXN3 3’ UTR May Decrease Age at Onset of SCA3/MJD in Chinese Patients

T. Ashizawa, K. Xia, Q. Pan, 2015, PloS one.

[Molecular cloning of the human CX 58 gene].

K. Xia, Q. Pan, J. Xia, 2002, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

SPG35 contributes to the second common subtype of AR‐HSP in China: frequency analysis and functional characterization of FA2H gene mutations

K. Xia, Q. Pan, X. Yan, 2015, Clinical genetics.

Expression of reconstructive hFVIII in the hrDNA by using hrDNA targeting vector

K. Xia, Q. Pan, D. Liang, 2005 .

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

K. Xia, Q. Pan, Zhengmao Hu, 2006, Human molecular genetics.

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

Q. Pan, D. Liang, Lingqian Wu, 2015, Gene.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Xin Jin, K. Xia, Q. Pan, 2010, Brain : a journal of neurology.

Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population

K. Xia, Q. Pan, B. Tang, 2010, Movement disorders : official journal of the Movement Disorder Society.

A novel de novo POGZ mutation in a patient with intellectual disability

Jingping Zhao, Q. Pan, J. Ou, 2016, Journal of Human Genetics.

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

K. Xia, Q. Pan, H. Dai, 2002, Journal of Human Genetics.

Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders

Chunyu Liu, Zhongsheng Sun, K. Xia, 2021, Journal of Autism and Developmental Disorders.

A Susceptibility Locus at Chromosome 3p21 Linked to Familial Nasopharyngeal Carcinoma

Z. Zeng, W. Xiong, Gui-yuan Li, 2004, Cancer Research.

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family

Q. Pan, W. Su, L. Wu, 2014, Eye.

Construction of a multiplex allele‐specific PCR‐based universal array (ASPUA) and its application to hearing loss screening†

K. Xia, Q. Pan, Jing Cheng, 2007, Human mutation.

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China

Q. Pan, Yong Feng, L. Mei, 2016, PloS one.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

N. Brown, H. Peeters, E. Eichler, 2020, American journal of human genetics.

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Bradley P. Coe, B. Coe, C. Baker, 2018, Molecular Autism.

A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

K. Xia, Q. Pan, Zhengmao Hu, 2004, Molecular vision.

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

Jun Wang, Jianguo Zhang, K. Xia, 2013, PloS one.

SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia

Liangdan Sun, Xuejun Zhang, K. Xia, 2014, Journal of Medical Genetics.

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

K. Xia, Q. Pan, H. Dai, 2005, Human Genetics.

PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population

K. Xia, Q. Pan, B. Tang, 2011, Brain Research.

Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population

Jingping Zhao, K. Xia, G. Xun, 2010, Psychiatric genetics.

Efficient protein expression from the endogenous RNA polymerase I promoter using a human ribosomal DNA targeting vector.

K. Xia, Q. Pan, D. Liang, 2008, Biochemical and biophysical research communications.

AMPD1 functional variants associated with autism in Han Chinese population

Jingping Zhao, D. Tian, K. Xia, 2015, European Archives of Psychiatry and Clinical Neuroscience.

H. Shang, T. Ashizawa, Baorong Zhang, 2017, Brain : a journal of neurology.

Dispensable role of Drosophila ortholog of LRRK2 kinase activity in survival of dopaminergic neurons

R. Bodmer, K. Xia, Q. Pan, 2008, Molecular Neurodegeneration.

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

K. Xia, Q. Pan, H. Dai, 2004, Human Genetics.

Mutation analysis of Parkin, PINK1, DJ‐1 and ATP13A2 genes in Chinese patients with autosomal recessive early‐onset Parkinsonism

K. Xia, Q. Pan, B. Tang, 2008, Movement disorders : official journal of the Movement Disorder Society.

Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.

K. Xia, Q. Pan, B. Tang, 2011, Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences.

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

K. Xia, Q. Pan, Hui Guo, 2017, BMC Medical Genetics.

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders

T. Ashizawa, K. Xia, Q. Pan, 2013, Neurobiology of Aging.

Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment

K. Xia, Q. Pan, H. Dai, 1998, Nature Genetics.

A novel deletion to normal size in the sperm of a fragile X full mutation male

Q. Pan, L. Wu, R. Duan, 2014, Clinical genetics.

Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population

K. Xia, Q. Pan, B. Tang, 2010, Neuroscience Letters.

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease

Q. Pan, D. Liang, Lingqian Wu, 2015, Molecular Cytogenetics.

Disruption of Contactin 4 in two subjects with autism in Chinese population.

Jingping Zhao, K. Xia, G. Xun, 2012, Gene.

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population

Wei Li, K. Xia, Z. Xiong, 2012, Human Genetics.

[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].

K. Xia, Q. Pan, B. Tang, 2009, Zhonghua yi xue za zhi.

A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12‐p35.1

K. Xia, Q. Pan, B. Tang, 2008, Clinical genetics.

Screening of LRRK2 interactants by yeast 2-hybrid analysis.

K. Xia, Q. Pan, H. Dai, 2008, Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences.

[Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology].

K. Xia, Q. Pan, B. Tang, 2009, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A novel locus for congenital simple microphthalmia family mapping to 17p12-q12.

K. Xia, Q. Pan, W. Su, 2011, Investigative ophthalmology & visual science.

(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China.

H. Shang, T. Klockgether, T. Ashizawa, 2016, Brain : a journal of neurology.

Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China

K. Xia, Q. Pan, B. Tang, 2013, Journal of Clinical Neuroscience.

LRRK2 Pro755Leu variant in ethnic Chinese population with Parkinson's disease

K. Xia, Q. Pan, B. Tang, 2011, Neuroscience Letters.

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia

Y. Li, K. Xia, Q. Pan, 2015, Genetics in Medicine.

[Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population].

K. Xia, Q. Pan, B. Tang, 2010, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson’s disease in the Chinese population

K. Xia, Q. Pan, B. Tang, 2011, Journal of Clinical Neuroscience.

[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].

K. Xia, Q. Pan, H. Dai, 2005, Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences.

[Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].

K. Xia, Q. Pan, D. Liang, 2009, Yi chuan = Hereditas.

Silica nanoparticle is a possible safe carrier for gene therapy

K. Xia, Q. Pan, D. Liang, 2005 .

Investigation of hrDNA targeting vector-mediated tumor-specific suicide gene therapy for hepatocellular carcinoma

K. Xia, Q. Pan, D. Liang, 2006 .

[Identification and clone of human Alzheimer's disease related gene nicastrin promoter].

K. Xia, Q. Pan, J. Xia, 2006, Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences.

A minidystrophin-EGFP fusion gene expressed in Cos-7 cells mediated by human source vector.

K. Xia, Q. Pan, D. Liang, 2005, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

Daisuke Sato, N. Niikawa, K. Yoshiura, 2009, American journal of medical genetics. Part A.

Genetic analysis of Spinocerebellar ataxia type 17 in Parkinson's disease in Mainland China.

K. Xia, Q. Pan, B. Tang, 2010, Parkinsonism & related disorders.

A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.

K. Xia, Q. Pan, B. Tang, 2008, Chinese medical journal.

Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population

K. Xia, Q. Pan, B. Tang, 2010, Neuroscience Letters.

Correlation between FMR1 expression and clinical phenotype in discordant dichorionic–diamniotic monozygotic twin sisters with the fragile x mutation

Q. Pan, J. Ou, J. Xue, 2013, Journal of Medical Genetics.

A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family

K. Xia, Q. Pan, B. Tang, 2004, Journal of the Neurological Sciences.

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.

Q. Pan, D. Liang, Lingqian Wu, 2017, Clinica chimica acta; international journal of clinical chemistry.

[Growing of human embryonic stem cells on feeders derived from themselves].

Qiao Zeng, K. Xia, Q. Pan, 2009, Yi chuan = Hereditas.

Mutation in PITX2 is associated with ring dermoid of the cornea

K. Xia, Q. Pan, L. Wu, 2004, Journal of Medical Genetics.

Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.

Q. Pan, H. Dai, B. Tang, 2000, Archives of neurology.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease

K. Xia, Q. Pan, W. Su, 2010, Molecular Vision.

Atoh7 promotes retinal Müller cell differentiation into retinal ganglion cells

K. Xia, Q. Pan, X. Xia, 2016, Cytotechnology.

[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].

K. Xia, Q. Pan, Zhengmao Hu, 2005, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Polygenic determinants of Parkinson's disease in a Chinese population

Kai Li, Lu Shen, Hong Jiang, 2015, Neurobiology of Aging.

Mutation analysis of hereditary multiple exostoses in the Chinese

Q. Pan, J. Xia, Zhigao Long, 1999, Human Genetics.

A syndactyly type IV locus maps to 7q36

Daisuke Sato, N. Niikawa, K. Yoshiura, 2007, Journal of Human Genetics.

Identification of the alternative promoters of the KChIP4 subfamily.

K. Xia, Q. Pan, D. Liang, 2005, Acta biochimica et biophysica Sinica.

Association of PINK 1 and DJ-1 confers digenic inheritance of early-onset Parkinson ’ s disease

K. Xia, Q. Pan, Zhengmao Hu, 2006 .

[Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris].

K. Xia, Q. Pan, D. Liang, 2008, Yi chuan = Hereditas.

Research on screening and identification of proteins interacting with ataxin-3.

K. Xia, Q. Pan, B. Tang, 2005, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Xin Jin, K. Xia, Q. Pan, 2010, Brain : a journal of neurology.

Mutation in PITX2 is associated with ring dermoid of the cornea

K. Xia, Q. Pan, D. Liang, 2004, Journal of Medical Genetics.

Mutation and Clinical Characteristics of Autosomal-Dominant Hereditary Spastic Paraplegias in China

K. Xia, Q. Pan, B. Tang, 2014, Neurodegenerative Diseases.

Non‐viral ex vivo transduction of human hepatocyte cells to express factor VIII using a human ribosomal DNA‐targeting vector

K. Xia, Q. Pan, L. Wu, 2007, Journal of thrombosis and haemostasis : JTH.