Research Topics
Genomes and Genes | Stephan ZuchnerSummaryAffiliation: Duke University Medical Center Country: USA Publications
| Collaborators
|
Detail Information
Publications
Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathiesStephan Zuchner
Department of Psychiatry, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Nat Clin Pract Neurol 2:45-53. 2006..The known CMT2-related genes represent key players in these pathways, however, and are likely to provide powerful tools for identifying targets for future therapeutic intervention...- Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31Stephan Zuchner
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 79:365-9. 2006..We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease... - The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depressionWarren D Taylor
Neuropsychiatric Imaging Research Laboratory, and the Department of Psychiatry, Duke University Medical Center, Durham, NC 27710, USA
Am J Geriatr Psychiatry 16:263-71. 2008.... - Sleep quality varies as a function of 5-HTTLPR genotype and stressBeverly H Brummett
Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC 27710, USA
Psychosom Med 69:621-4. 2007..A common 44-base pair deletion (s allele) polymorphism in the 5-HTTLPR is associated with reduced 5HTT transcription efficiency and 5HT uptake in vitro... - Effects of environmental stress and gender on associations among symptoms of depression and the serotonin transporter gene linked polymorphic region (5-HTTLPR)Beverly H Brummett
Department of Psychiatry and Behavioral Medicine, Duke University Medical Center, Box 2969, Durham, NC 27710, USA
Behav Genet 38:34-43. 2008..Findings from two independent samples suggest that the association of 5-HTTLPR with depression varies according to gender and stressful life events... - Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synucleinGaofeng Wang
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 82:283-9. 2008..We propose this is likely to be a common mechanism of genetic modulation of individual susceptibility to complex disease... - Social support in older individuals: the role of the BDNF Val66Met polymorphismWarren D Taylor
Department of Psychiatry, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet B Neuropsychiatr Genet 147:1205-12. 2008..Further work is needed to determine the generalizability of this finding to the broader population, as well as its significance for clinical outcomes... - Lipid levels are associated with a regulatory polymorphism of the monoamine oxidase-A gene promoter (MAOA-uVNTR)Beverly H Brummett
Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC 27710, USA
Med Sci Monit 14:CR57-61. 2008..Allelic variation in MAOA-uVNTR has been associated with body mass index (BMI). We extended previous work by examining relations among this polymorphism and serum lipid levels... - Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depressionWarren D Taylor
Department of Psychiatry, Duke University Medical Center, Durham, NC 27710, USA
Am J Geriatr Psychiatry 15:850-7. 2007..The authors examined the relationship between this polymorphism and depression in an elderly sample, hypothesizing that the Met66 allele would be associated with late-life depression... - Vitamin D receptor gene as a candidate gene for Parkinson diseaseMegan W Butler
Department of Pediatrics, Duke University Medical Center, Duke University School of Medicine, Durham, NC, USA
Ann Hum Genet 75:201-10. 2011..003) but not risk. The 3' end SNP has been associated with both MS and AD in previous studies. Our findings suggest VDR as a potential susceptibility gene and support an essential role of vitamin D in PD... - Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth diseaseStephan Zuchner
Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Box 3445 DUMC, Durham, NC 27710, USA
Neuromolecular Med 8:63-74. 2006..The known CMT2 genes present key players in these pathways and will likely prove as powerful tools in identifying eventual future targets for therapeutic intervention... - Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystoniaNicole Calakos
Center for Translational Neuroscience, Box 2900, Research Dr, Duke University Medical Center, Durham, NC 27710, USA
J Med Genet 47:646-50. 2010..Because of the established role of the TOR1A gene in heritable generalised dystonia (DYT1), a potential genetic contribution of TOR1A to the more prevalent and diverse presentations of late onset, focal dystonia has been suggested... - Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficienciesRavikanth Metlapally
Duke University Eye Center, Durham, North Carolina, USA
Invest Ophthalmol Vis Sci 50:1552-8. 2009..Genomic DNA from five pedigrees (with high myopia and either protanopia or deuteranopia) that mapped to Xq28 were screened for TEX28 copy number variations (CNVs) and sequence variants... - Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2Stephan Zuchner
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Ann Neurol 59:276-81. 2006..Reports of affected families have indicated autosomal dominant and recessive forms, but the genetic cause of this disease has remained elusive... - Associations of a regulatory polymorphism of monoamine oxidase-A gene promoter (MAOA-uVNTR) with symptoms of depression and sleep qualityBeverly H Brummett
Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, NC 27710, USA
Psychosom Med 69:396-401. 2007..MAOA-uVNTR genotype has been associated with both psychological and physical measures... - SNPselector: a web tool for selecting SNPs for genetic association studiesHong Xu
The Duke Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Bioinformatics 21:4181-6. 2005..SNPselector outputs result in compressed Excel spreadsheet files for review by the user. AVAILABILITY: SNPselector is freely available at http://primer.duhs.duke.edu/.. - Emerging pathways for hereditary axonopathiesStephan Zuchner
Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Box 3445 DUMC, Durham, NC 27710, USA
J Mol Med (Berl) 83:935-43. 2005..This review attempts to cross the traditional clinical classifications in order to draw an emerging picture of common pathways between causative genes, providing a different perspective of this rapidly growing scientific field... - Identification of risk and age-at-onset genes on chromosome 1p in Parkinson diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 77:252-64. 2005..The known or putative functions of these genes fit well with the current suspected pathogenic mechanisms of PD and thus show great potential as candidates for the PARK10 locus... - The COMT Val158Met polymorphism and temporal lobe morphometry in healthy adultsWarren D Taylor
Department of Psychiatry, Duke University Medical Center, Durham, NC 27710, USA
Psychiatry Res 155:173-7. 2007..5T brain MRI and genotyping. After controlling for demographics, Val158 allele homozygotes exhibited significantly smaller temporal lobe and hippocampal volumes, with a trend for smaller amygdala volumes... - Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth diseaseStephan Zuchner
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
Nat Genet 37:289-94. 2005..Additionally, in the Australian and Belgian pedigrees, which carry two different mutations affecting the same amino acid, Lys558, CMT cosegregated with neutropenia, which has not previously been associated with CMT neuropathies...