Published in Am J Hum Genet on October 28, 2010
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet (2011) 2.19
Prodynorphin CpG-SNPs associated with alcohol dependence: elevated methylation in the brain of human alcoholics. Addict Biol (2011) 1.27
Targeting dynorphin/kappa opioid receptor systems to treat alcohol abuse and dependence. Alcohol (2012) 1.12
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord (2012) 1.10
Opiate drug use and the pathophysiology of neuroAIDS. Curr HIV Res (2012) 1.07
Morphine potentiates neurodegenerative effects of HIV-1 Tat through actions at μ-opioid receptor-expressing glia. Brain (2011) 1.06
Morphine and gp120 toxic interactions in striatal neurons are dependent on HIV-1 strain. J Neuroimmune Pharmacol (2011) 1.02
Proteomic pathway analysis reveals inflammation increases myeloid-derived suppressor cell resistance to apoptosis. Mol Cell Proteomics (2010) 1.01
Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin (2013) 0.99
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization. Brain (2012) 0.92
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet (2012) 0.87
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol Genet (2016) 0.84
The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol (2012) 0.84
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing. J Neurol (2015) 0.83
Fractalkine/CX3CL1 protects striatal neurons from synergistic morphine and HIV-1 Tat-induced dendritic losses and death. Mol Neurodegener (2011) 0.83
Meta-Analysis of Gene Expression in Autism Spectrum Disorder. Autism Res (2015) 0.81
PTEN gene silencing prevents HIV-1 gp120(IIIB)-induced degeneration of striatal neurons. J Neurovirol (2011) 0.81
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. J Neurol (2013) 0.80
Spinocerebellar ataxia type 36 in the Han Chinese. Neurol Genet (2016) 0.79
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways. J Physiol (2016) 0.79
Lateralized response of dynorphin a peptide levels after traumatic brain injury. J Neurotrauma (2012) 0.78
ASICs and neuropeptides. Neuropharmacology (2015) 0.78
Conformation effects of CpG methylation on single-stranded DNA oligonucleotides: analysis of the opioid peptide dynorphin-coding sequences. PLoS One (2012) 0.77
R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism. PLoS One (2013) 0.76
Opiate addiction therapies and HIV-1 Tat: interactive effects on glial [Ca²⁺]i, oxyradical and neuroinflammatory chemokine production and correlative neurotoxicity. Curr HIV Res (2014) 0.76
Mutations in PDYN are not responsible for multiple system atrophy. J Neurol (2013) 0.76
Opioid precursor protein isoform is targeted to the cell nuclei in the human brain. Biochim Biophys Acta (2016) 0.75
Plasma membrane poration by opioid neuropeptides: a possible mechanism of pathological signal transduction. Cell Death Dis (2015) 0.75
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. Am J Hum Genet (2017) 0.75
Universal sample preparation method for proteome analysis. Nat Methods (2009) 16.88
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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet (1998) 4.92
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Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet (2006) 2.34
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet (2009) 1.96
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Apoptotic death of striatal neurons induced by human immunodeficiency virus-1 Tat and gp120: Differential involvement of caspase-3 and endonuclease G. J Neurovirol (2004) 1.38
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Nonopiate effects of dynorphin and des-Tyr-dynorphin. Science (1982) 1.29
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Neuropathic pain: the paradox of dynorphin. Mol Interv (2001) 1.27
Dynorphin opioid peptides enhance acid-sensing ion channel 1a activity and acidosis-induced neuronal death. J Neurosci (2009) 1.22
Neuroadaptations in human chronic alcoholics: dysregulation of the NF-kappaB system. PLoS One (2007) 1.19
Emerging pathogenic pathways in the spinocerebellar ataxias. Curr Opin Genet Dev (2009) 1.17
Pathobiology of dynorphins in trauma and disease. Front Biosci (2005) 1.17
Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. Cerebellum (2010) 1.16
Prodynorphin processing by proprotein convertase 2. Cleavage at single basic residues and enhanced processing in the presence of carboxypeptidase activity. J Biol Chem (1998) 1.11
Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci (2010) 1.10
Differential involvement of p38 and JNK MAP kinases in HIV-1 Tat and gp120-induced apoptosis and neurite degeneration in striatal neurons. Neuroscience (2005) 1.10
Opioid receptors in the human cerebellum: evidence from [11C]diprenorphine PET, mRNA expression and autoradiography. Neuroreport (1999) 1.06
Immunohistochemical staining of post-mortem adult human brain sections. Nat Protoc (2006) 1.01
Dysregulation of dynorphins in Alzheimer disease. Neurobiol Aging (2006) 0.98
Dynorphin: friend or foe? Pain (2000) 0.97
Dynorphin A (1-13) neurotoxicity in vitro: opioid and non-opioid mechanisms in mouse spinal cord neurons. Exp Neurol (1999) 0.96
Big dynorphin as a putative endogenous ligand for the kappa-opioid receptor. J Neurochem (2006) 0.94
Prodynorphin storage and processing in axon terminals and dendrites. FASEB J (2006) 0.93
Prodynorphin transcripts and proteins differentially expressed and regulated in the adult human brain. FASEB J (2005) 0.92
Behavioral effects and in vivo degradation of intraventricularly administered dynorphin-(1-13) and D-Ala2-dynorphin-(1-11) in rats. Life Sci (1980) 0.92
Prodynorphin knockout mice demonstrate diminished age-associated impairment in spatial water maze performance. Behav Brain Res (2005) 0.92
A general procedure for analysis of proenkephalin B derived opioid peptides. Regul Pept (1985) 0.91
Translocation of dynorphin neuropeptides across the plasma membrane. A putative mechanism of signal transmission. J Biol Chem (2005) 0.89
Cytotoxic effects of dynorphins through nonopioid intracellular mechanisms. Exp Cell Res (2001) 0.88
Dynorphin A toxicity in striatal neurons via an alpha-amino-3-hydroxy-5-methylisoxazole-4-propionate/kainate receptor mechanism. Neuroscience (2003) 0.85
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain (2004) 0.83
Characterization of dynorphin A-converting enzyme in human spinal cord. An endoprotease related to a distinct conversion pathway for the opioid heptadecapeptide? J Biol Chem (1992) 0.82
Membrane leakage induced by dynorphins. FEBS Lett (2006) 0.81
Bestatin potentiates the antinociception but not the motor dysfunction induced by intracerebrally administered dynorphin-B in mice. Neuropeptides (1989) 0.80
Calcium influx into phospholipid vesicles caused by dynorphin neuropeptides. Biochim Biophys Acta (2008) 0.79
Spinocerebellar ataxia type 23: a genetic update. Cerebellum (2008) 0.78
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet (2006) 15.63
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet (2007) 13.28
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet (2007) 12.65
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Nat Genet (2010) 9.90
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet (2007) 8.50
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med (2008) 7.66
Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet (2008) 7.63
Multiple common variants for celiac disease influencing immune gene expression. Nat Genet (2010) 6.90
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Nat Genet (2008) 6.72
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes. Am J Hum Genet (2006) 6.10
Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med (2009) 5.27
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet (2008) 5.05
Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nat Rev Genet (2009) 4.79
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. Nat Genet (2010) 4.65
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet (2012) 4.46
Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet (2011) 4.42
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat Genet (2012) 4.41
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. PLoS Genet (2011) 3.68
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet (2011) 3.65
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Alterations of serum levels of brain-derived neurotrophic factor (BDNF) in depressed patients with or without antidepressants. Biol Psychiatry (2003) 3.12
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. Am J Hum Genet (2008) 3.11
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet (2011) 3.03
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases. Am J Hum Genet (2007) 2.89
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol (2007) 2.80
Using genome-wide pathway analysis to unravel the etiology of complex diseases. Genet Epidemiol (2009) 2.72
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. Nat Genet (2005) 2.71
Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. J Biol Chem (2003) 2.63
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet (2007) 2.63
The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes. Nature (2003) 2.63
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53
Involvement of aquaporin-4 in astroglial cell migration and glial scar formation. J Cell Sci (2005) 2.48
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. Circulation (2010) 2.41
Randomized feeding intervention in infants at high risk for celiac disease. N Engl J Med (2014) 2.39
Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet (2012) 2.29
Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet (2002) 2.24
Molecular determinants of permeation through the cation channel TRPV4. J Biol Chem (2002) 2.24
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain (2003) 2.20
Upregulation of TRPC1 in the development of cardiac hypertrophy. J Mol Cell Cardiol (2006) 2.17
Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum Mol Genet (2009) 2.15
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet (2010) 2.15
Genetic variation in Toll-like receptors and disease susceptibility. Nat Immunol (2012) 2.09
Meta-analyses on suspected chronic obstructive pulmonary disease genes: a summary of 20 years' research. Am J Respir Crit Care Med (2009) 2.04
ModifiComb, a new proteomic tool for mapping substoichiometric post-translational modifications, finding novel types of modifications, and fingerprinting complex protein mixtures. Mol Cell Proteomics (2006) 2.03
Wnt signaling and Dupuytren's disease. N Engl J Med (2011) 2.02
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet (2002) 2.02
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. Circulation (2009) 2.01
Sevenfold-reduced osmotic water permeability in primary astrocyte cultures from AQP-4-deficient mice, measured by a fluorescence quenching method. Am J Physiol Cell Physiol (2003) 1.99
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96
De novo peptide sequencing and identification with precision mass spectrometry. J Proteome Res (2007) 1.95
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. Circ Cardiovasc Genet (2015) 1.94
Decreased serum levels of D-serine in patients with schizophrenia: evidence in support of the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia. Arch Gen Psychiatry (2003) 1.93
Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. Heart Rhythm (2012) 1.91
A novel role for XIAP in copper homeostasis through regulation of MURR1. EMBO J (2003) 1.90
Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet (2008) 1.90
Obesity genes identified in genome-wide association studies are associated with adiposity measures and potentially with nutrient-specific food preference. Am J Clin Nutr (2009) 1.88
Synergistic increases in intracellular Ca2+, and the release of MCP-1, RANTES, and IL-6 by astrocytes treated with opiates and HIV-1 Tat. Glia (2005) 1.86
Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet (2010) 1.86
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat (2013) 1.85
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology (2014) 1.85
Molecular basis for interactions of HIV and drugs of abuse. J Acquir Immune Defic Syndr (2002) 1.83
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet (2013) 1.83
Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study. Am J Respir Crit Care Med (2014) 1.80
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet (2010) 1.79
Two cases of calcified amorphous tumor mimicking mitral valve vegetation. Circulation (2012) 1.79
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. Hum Mol Genet (2010) 1.78
Proteomics-grade de novo sequencing approach. J Proteome Res (2005) 1.76
Design, synthesis, and biological evaluation of the first selective nonpeptide AT2 receptor agonist. J Med Chem (2004) 1.74
Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. Eur Heart J (2009) 1.73
Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J (2007) 1.72
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol (2004) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection. Am J Hum Genet (2010) 1.71
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol (2012) 1.70
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J (2003) 1.70
Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. JACC Cardiovasc Imaging (2009) 1.70
Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction. Atherosclerosis (2013) 1.69
A major non-HLA locus in celiac disease maps to chromosome 19. Gastroenterology (2003) 1.69
Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology (2009) 1.69
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol (2011) 1.68