PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.

PubWeight™: 0.85‹?›

🔗 View Article (PMID 23176561)

Published in CNS Neurosci Ther on November 24, 2012

Authors

Hong-Fu Li1, Wang Ni, Zhi-Qi Xiong, Jianfeng Xu, Zhi-Ying Wu

Author Affiliations

1: Department of Neurology, Huashan Hospital, Institutes of Brain Science, Shanghai Medical College, Fudan University, China.

Articles by these authors

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08

Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01

Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet (2007) 19.18

Cumulative association of five genetic variants with prostate cancer. N Engl J Med (2008) 15.34

Inflammation in prostate carcinogenesis. Nat Rev Cancer (2007) 9.08

Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer. Nat Med (2009) 6.61

Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet (2008) 6.10

Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med (2012) 5.49

Two genome-wide association studies of aggressive prostate cancer implicate putative prostate tumor suppressor gene DAB2IP. J Natl Cancer Inst (2007) 4.85

Association between two unlinked loci at 8q24 and prostate cancer risk among European Americans. J Natl Cancer Inst (2007) 4.24

Androgen-induced TOP2B-mediated double-strand breaks and prostate cancer gene rearrangements. Nat Genet (2010) 3.83

Identification of a new prostate cancer susceptibility locus on chromosome 8q24. Nat Genet (2009) 3.76

Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease. N Engl J Med (2002) 3.68

Neutrophils mediate insulin resistance in mice fed a high-fat diet through secreted elastase. Nat Med (2012) 3.21

Evidence for two independent prostate cancer risk-associated loci in the HNF1B gene at 17q12. Nat Genet (2008) 3.14

The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med (2009) 2.91

Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21. Nat Genet (2011) 2.70

Meta-analysis identifies common variants associated with body mass index in east Asians. Nat Genet (2012) 2.70

Zinc-mediated transactivation of TrkB potentiates the hippocampal mossy fiber-CA3 pyramid synapse. Neuron (2008) 2.64

Polygenic risk score improves prostate cancer risk prediction: results from the Stockholm-1 cohort study. Eur Urol (2011) 2.62

Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am J Hum Genet (2001) 2.61

Genome-wide association study identifies new prostate cancer susceptibility loci. Hum Mol Genet (2011) 2.51

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet (2011) 2.48

DNA copy number alterations in prostate cancers: a combined analysis of published CGH studies. Prostate (2007) 2.37

PTEN protein loss by immunostaining: analytic validation and prognostic indicator for a high risk surgical cohort of prostate cancer patients. Clin Cancer Res (2011) 2.35

Potential impact of adding genetic markers to clinical parameters in predicting prostate biopsy outcomes in men following an initial negative biopsy: findings from the REDUCE trial. Eur Urol (2012) 2.34

Sequence variants at 22q13 are associated with prostate cancer risk. Cancer Res (2009) 2.27

Association between genetic polymorphisms in the prostate-specific antigen gene promoter and serum prostate-specific antigen levels. J Natl Cancer Inst (2003) 2.26

Adipocyte NCoR knockout decreases PPARγ phosphorylation and enhances PPARγ activity and insulin sensitivity. Cell (2011) 2.26

Homozygous deletions and recurrent amplifications implicate new genes involved in prostate cancer. Neoplasia (2008) 2.07

A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk. Cancer Res (2005) 2.02

Resveratrol protects against global cerebral ischemic injury in gerbils. Brain Res (2002) 1.95

Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients. Prostate (2009) 1.95

Phospholipase A2 in the central nervous system: implications for neurodegenerative diseases. J Lipid Res (2003) 1.92

Sequence variants of toll-like receptor 4 are associated with prostate cancer risk: results from the CAncer Prostate in Sweden Study. Cancer Res (2004) 1.91

Fine mapping association study and functional analysis implicate a SNP in MSMB at 10q11 as a causal variant for prostate cancer risk. Hum Mol Genet (2009) 1.90

Activity-dependent development of callosal projections in the somatosensory cortex. J Neurosci (2007) 1.87

MicroRNA-101 negatively regulates Ezh2 and its expression is modulated by androgen receptor and HIF-1alpha/HIF-1beta. Mol Cancer (2010) 1.87

Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein. Circulation (2002) 1.85

RF1 knockout allows ribosomal incorporation of unnatural amino acids at multiple sites. Nat Chem Biol (2011) 1.83

Two independent prostate cancer risk-associated Loci at 11q13. Cancer Epidemiol Biomarkers Prev (2009) 1.78

Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics. Hum Genet (2006) 1.70

Association of a disintegrin and metalloprotease 33 (ADAM33) gene with asthma in ethnically diverse populations. J Allergy Clin Immunol (2003) 1.69

Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation. Prostate (2010) 1.67

Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women. Stroke (2005) 1.66

Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma. Nat Genet (2012) 1.64

DNA methylation alterations exhibit intraindividual stability and interindividual heterogeneity in prostate cancer metastases. Sci Transl Med (2013) 1.63

Validation of genome-wide prostate cancer associations in men of African descent. Cancer Epidemiol Biomarkers Prev (2010) 1.62

Suppression of experimental autoimmune encephalomyelitis by selective blockade of encephalitogenic T-cell infiltration of the central nervous system. Nat Med (2003) 1.62

TAT-mediated delivery of neuroglobin protects against focal cerebral ischemia in mice. Exp Neurol (2010) 1.62

Exome sequencing of prostate cancer supports the hypothesis of independent tumour origins. Eur Urol (2012) 1.60

A cell-free protein-producing gel. Nat Mater (2009) 1.59

Comprehensive assessment of DNA copy number alterations in human prostate cancers using Affymetrix 100K SNP mapping array. Genes Chromosomes Cancer (2006) 1.58

Sequence variants in Toll-like receptor gene cluster (TLR6-TLR1-TLR10) and prostate cancer risk. J Natl Cancer Inst (2005) 1.55

A population-based assessment of germline HOXB13 G84E mutation and prostate cancer risk. Eur Urol (2012) 1.55

Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations. Prostate (2008) 1.53

Macrophage inhibitory cytokine 1: a new prognostic marker in prostate cancer. Clin Cancer Res (2009) 1.51

Genome-wide search for atopy susceptibility genes in Dutch families with asthma. J Allergy Clin Immunol (2002) 1.50

A novel prostate cancer susceptibility locus at 19q13. Cancer Res (2009) 1.49

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. Hum Mol Genet (2012) 1.47

A support vector machine approach for detecting gene-gene interaction. Genet Epidemiol (2008) 1.46

Assembly of inflammation-related genes for pathway-focused genetic analysis. PLoS One (2007) 1.46

Genetic variants in 2q31 and 5p15 are associated with aggressive benign prostatic hyperplasia in a Chinese population. Prostate (2013) 1.45

Combined genome-wide scan for prostate cancer susceptibility genes. J Natl Cancer Inst (2004) 1.44

The ADPRT V762A genetic variant contributes to prostate cancer susceptibility and deficient enzyme function. Cancer Res (2004) 1.41

Chinese patients with spinocerebellar ataxia type 3 presenting with rare clinical symptoms. J Neurol Sci (2012) 1.39

Human polymorphisms at long non-coding RNAs (lncRNAs) and association with prostate cancer risk. Carcinogenesis (2011) 1.37

Global patterns of prostate cancer incidence, aggressiveness, and mortality in men of african descent. Prostate Cancer (2013) 1.37

Neuregulin 1 represses limbic epileptogenesis through ErbB4 in parvalbumin-expressing interneurons. Nat Neurosci (2011) 1.36

Identification of PCDH1 as a novel susceptibility gene for bronchial hyperresponsiveness. Am J Respir Crit Care Med (2009) 1.35

Blood biomarker levels to aid discovery of cancer-related single-nucleotide polymorphisms: kallikreins and prostate cancer. Cancer Prev Res (Phila) (2010) 1.35

CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci (2010) 1.33

Association of reported prostate cancer risk alleles with PSA levels among men without a diagnosis of prostate cancer. Prostate (2009) 1.33

Differential roles of NMDA receptor subtypes in ischemic neuronal cell death and ischemic tolerance. Stroke (2008) 1.32

Systematic confirmation study of reported prostate cancer risk-associated single nucleotide polymorphisms in Chinese men. Cancer Sci (2011) 1.32

Multiple genomic alterations on 21q22 predict various TMPRSS2/ERG fusion transcripts in human prostate cancers. Genes Chromosomes Cancer (2007) 1.32

Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer. Cancer Res (2009) 1.29

Differential roles of NR2A- and NR2B-containing NMDA receptors in activity-dependent brain-derived neurotrophic factor gene regulation and limbic epileptogenesis. J Neurosci (2007) 1.29

TORC1 regulates activity-dependent CREB-target gene transcription and dendritic growth of developing cortical neurons. J Neurosci (2009) 1.28

Prebiotically plausible oligoribonucleotide ligation facilitated by chemoselective acetylation. Nat Chem (2013) 1.28

Genetic variants in the LEPR, CRY1, RNASEL, IL4, and ARVCF genes are prognostic markers of prostate cancer-specific mortality. Cancer Epidemiol Biomarkers Prev (2011) 1.28

BACOM: in silico detection of genomic deletion types and correction of normal cell contamination in copy number data. Bioinformatics (2011) 1.26

H6D polymorphism in macrophage-inhibitory cytokine-1 gene associated with prostate cancer. J Natl Cancer Inst (2004) 1.26

Genetic variation in the toll-like receptor gene cluster (TLR10-TLR1-TLR6) and prostate cancer risk. Int J Cancer (2008) 1.25

Fine-mapping the putative chromosome 17q21-22 prostate cancer susceptibility gene to a 10 cM region based on linkage analysis. Hum Genet (2006) 1.25

Genetic markers associated with early cancer-specific mortality following prostatectomy. Cancer (2013) 1.25

Established prostate cancer susceptibility variants are not associated with disease outcome. Cancer Epidemiol Biomarkers Prev (2009) 1.24

Association between sequence variants at 17q12 and 17q24.3 and prostate cancer risk in European and African Americans. Prostate (2008) 1.24

Requirement of TORC1 for late-phase long-term potentiation in the hippocampus. PLoS One (2006) 1.22

DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev (2003) 1.20

Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer. Prostate (2010) 1.20

Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics. Hum Mol Genet (2007) 1.20

Joint effect of estrogen receptor beta sequence variants and endogenous estrogen exposure on breast cancer risk in Chinese women. Cancer Res (2003) 1.19

Systematic replication study of reported genetic associations in prostate cancer: Strong support for genetic variation in the androgen pathway. Prostate (2006) 1.19

Fine mapping of a region of chromosome 11q13 reveals multiple independent loci associated with risk of prostate cancer. Hum Mol Genet (2011) 1.17

Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population. Am J Epidemiol (2011) 1.17