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Genomes and Genes | M A HauserSummaryAffiliation: Duke University Medical Center Country: USA Publications
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Publications
Myotilin is mutated in limb girdle muscular dystrophy 1AM A Hauser
Department of Medicine, Section of Medical Genetics, Duke University Medical Center, DUMC 3445, Durham, NC 27710 3445, USA
Hum Mol Genet 9:2141-7. 2000..Myotilin is a sarcomeric protein that binds to alpha-actinin and is localized in the Z-line. The observed missense mutation does not disrupt binding to alpha-actinin...
myotilin Mutation found in second pedigree with LGMD1AMichael A Hauser
Duke University, Durham, NC 27710, USA
Am J Hum Genet 71:1428-32. 2002..As a description of the second known pedigree with LGMD1A, this finding constitutes that gold standard of proof that mutations in the myotilin gene cause LGMD1A...- Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson diseaseE R Martin
Center for Human Genetics, Box 2903, Duke University Medical Center, Durham, NC 27710, USA
JAMA 286:2245-50. 2001..001) was detected between 4 of the 5 SNPs (SNPs 3, 9i, 9ii, and 11). CONCLUSIONS: This integrated approach of genetic linkage and positional association analyses implicates tau as a susceptibility gene for idiopathic PD... - Production and characterization of improved adenovirus vectors with the E1, E2b, and E3 genes deletedA Amalfitano
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
J Virol 72:926-33. 1998..The results suggested that these modified vectors may be very useful both for in vitro and in vivo gene therapy applications... - Apolipoprotein E controls the risk and age at onset of Parkinson diseaseY J Li
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Neurology 62:2005-9. 2004..Most previous studies seeking to establish such a link used case-control datasets and results have been inconsistent... - Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West AfricaP Challa
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27712, USA
J Glaucoma 11:416-20. 2002..Primary open-angle glaucoma patients with mutations in myocilin have a similar phenotype. Therefore, we investigated the role of mutations in myocilin in patients with POAG in a West African population... - Protective effect of complement factor B and complement component 2 variants in age-related macular degenerationKylee L Spencer
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
Hum Mol Genet 16:1986-92. 2007..21, 95% confidence interval 0.11-0.39; P < 10(-4)). Likelihood ratio testing and conditional analyses in the case-control data set suggest that a weaker, independent protective effect exists for CC2 E318D... - Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degenerationWilliam K Scott
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Ophthalmology 114:1151-6. 2007..To examine the potential gene-environment interaction between cigarette smoking and the complement factor H (CFH) T1277C polymorphism, 2 strong risk factors for age-related macular degeneration (AMD)... - Molecular markers of early Parkinson's disease based on gene expression in bloodClemens R Scherzer
Center for Neurologic Diseases, Brigham and Women s Hospital and Harvard Medical School, 65 Landsdowne Street, Cambridge, MA 02139, USA
Proc Natl Acad Sci U S A 104:955-60. 2007..59 +/- 0.05) than in controls (0.96 +/- 0.09) (P = 0.002) in two independent populations. Thus, gene expression signals measured in blood can facilitate the development of biomarkers for PD... - Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphismR Keith Shuler
Eye Center and Center for Human Genetics, Duke University, Durham, NC, USA
Arch Ophthalmol 125:63-7. 2007..To compare phenotypes of 2 age-related macular degeneration (AMD) susceptibility genes: LOC387715 and complement factor H (CFH)... - Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson diseaseSun J Kang
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Mov Disord 21:2175-80. 2006..02). No significant association was found in the male subset. Our results add to the evidence of involvement of MAOB in PD and suggest that the effect may be stronger in women... - Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United StatesMichael A Hauser
Center for Human Genetics Duke School of Medicine, Harvard Medical School, Boston, MA 02114, USA
J Glaucoma 15:358-63. 2006.... - Haplotypes spanning the complement factor H gene are protective against age-related macular degenerationKylee L Spencer
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
Invest Ophthalmol Vis Sci 48:4277-83. 2007..Besides the well-known risk imparted by carrying the Y402H variant in the complement factor H (CFH) gene on chromosome 1, recent evidence of the existence of protective haplotypes spanning CFH has been reported... - Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degenerationR Keith Shuler
Duke University Eye Center, Durham, NC 27710, USA
Am J Ophthalmol 145:303-307. 2008..To examine phenotypes of age-related macular degeneration (AMD) patients with the LOC387715 variant (T allele at rs10490924, A69S)... - Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degenerationR Keith Shuler
Duke University Eye Center, Durham, North Carolina 27710, USA
Ophthalmology 115:520-4. 2008..To examine phenotypes of age-related macular degeneration (AMD) patients with the complement factor H (CFH) variant (Y402H, C allele at rs1061170)... - No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populationsYutao Liu
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Mol Vis 13:2137-41. 2007.... - Deletion of CFHR3 and CFHR1 genes in age-related macular degenerationKylee L Spencer
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Hum Mol Genet 17:971-7. 2008..The presence of protective haplotypes in CFH that do not carry the deletion, suggests that other protective variants in this region have yet to be discovered... - Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucomaPratap Challa
Department of Ophthalmology, Duke University Eye Center, Durham, NC 27710, USA
Mol Vis 14:146-9. 2008..To identify if recently described LOXL1 (lysyl oxidase-like 1) polymorphisms are associated with pseudoexfoliation glaucoma (XFG) in a United States (U.S.) Caucasian patient population... 
Myotilin overexpression enhances myopathology in the LGMD1A mouse modelSean M Garvey
Center for Human Genetics, Duke University Medical Center, P O Box 3445, Durham, North Carolina 27710, USA
Muscle Nerve 37:663-7. 2008..These data suggest that strategies aimed at lowering total myotilin levels in LGMD1A patients may be an effective therapeutic approach...- Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populationsYutao Liu
Center for Human Genetics, Duke University Eye Center, Duke University Medical Center, Durham, North Carolina 27710, USA
Invest Ophthalmol Vis Sci 49:3465-8. 2008..The purpose of this study was to investigate whether XFG-associated variants of LOXL1 play a significant role in primary open-angle glaucoma in the Caucasian, African-American, and Ghanaian (West-African) populations... - Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degenerationJeffrey A Canter
Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America
PLoS ONE 3:e2091. 2008..20-3.91, p = 0.01). In conclusion, a specific mitochondrial polymorphism previously implicated in other neurodegenerative phenotypes (4917G) appears to convey risk for AMD independent of recently discovered nuclear DNA polymorphisms... - Complement factor H increases risk for atrophic age-related macular degenerationEric A Postel
Duke University Eye Center, Durham, North Carolina, USA
Ophthalmology 113:1504-7. 2006..To determine if the complement factor H gene (CFH) determines risk for development of geographic atrophy (GA)... - NOS2A and the modulating effect of cigarette smoking in Parkinson's diseaseDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Ann Neurol 60:366-73. 2006..NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with cigarette smoking. We examined NOS2A for association with PD risk and age at onset (AAO) and for interaction with smoking... - Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFMSean M Garvey
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Mol Genet 15:2348-62. 2006..These data provide evidence that myotilin mutations promote aggregate-dependent contractile dysfunction. In sum, we have established a promising patho-physiological mouse model that unifies the phenotypes of LGMD1A, MFM and SBM... - Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkageMichael A Hauser
Center for Human Genetics, Duke University, Durham, NC 27710 2903, USA
Hum Mol Genet 12:671-7. 2003..These genes represent excellent candidates for PD susceptibility alleles and further genomic convergence and analyses... - Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson diseaseYi Ju Li
Department of Medicine, Center for Human Genetics, Institute for Genome Science and Policy, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Hum Mol Genet 12:3259-67. 2003..This is provocative given reports of the possible role of inflammation in these two neurodegenerative disorders... - Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson diseaseJoelle M van der Walt
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 74:1121-7. 2004..0003), whereas a second haplotype (A-G-G-G-C) was found to be negatively associated with risk of PD (P=.0009). Our results strongly support FGF20 as a risk factor for PD... - A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD StudyElizabeth R Hauser
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 75:436-47. 2004..These data provide initial areas of the human genome where further investigation may reveal susceptibility genes for early-onset CAD... - Complement factor H variant increases the risk of age-related macular degenerationJonathan L Haines
Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Science 308:419-21. 2005..45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults... - Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson diseaseMaher A Noureddine
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Genet 117:27-33. 2005..Taken together, these results suggest a potential role for ELAVL4 as a modifier gene for AAO of PD... - Early adult-onset POAG linked to 15q11-13 using ordered subset analysisR Rand Allingham
Duke University Eye Center and the Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
Invest Ophthalmol Vis Sci 46:2002-5. 2005..Ordered subset analysis (OSA) is a recently described method that utilizes the variability of phenotypic traits to determine underlying genetic heterogeneity... - Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonismMichael A Hauser
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Arch Neurol 62:917-21. 2005..Genes contributing to rare mendelian forms of PD have been identified, but the genes involved in the more common idiopathic PD are not well understood... - Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigraMaher A Noureddine
Center for Human Genetics, Duke University, Durham, North Carolina 27710-2903, USA
Mov Disord 20:1299-309. 2005..The next step in the genomic convergence process will be to screen these 50 high-quality candidate genes for association with PD risk susceptibility and genetic effects on AAO... - 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/.. - Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degenerationSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 78:852-64. 2006..We demonstrate, for the first time, that a genetic susceptibility coupled with a modifiable lifestyle factor such as cigarette smoking confers a significantly higher risk of AMD than either factor alone... - Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)Sean M Garvey
Center for Human Genetics, Duke University, Durham, NC 27710 2903, USA
Ann Hum Genet 70:414-6. 2006..We also report several useful SNPs and STRs for the analysis of myotilin in muscle diseases of suspected, yet unknown genetic origin. We conclude that MYOT mutations likely are not a cause of VCPDM... - Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGECatherine Bowes Rickman
Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
Invest Ophthalmol Vis Sci 47:2305-16. 2006.... - Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucomaMichael A Hauser
Center for Human Genetics, Department of Ophthalmology, Duke University School of Medicine, Durham, NC, USA
Invest Ophthalmol Vis Sci 47:2542-6. 2006..To determine the distribution of WDR36 sequence variants in a cohort of patients with primary open-angle glaucoma (POAG) in the United States... - NEIBank: genomics and bioinformatics resources for vision researchGraeme Wistow
Section on Molecular Structure and Functional Genomics, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 0703, USA
Mol Vis 14:1327-37. 2008..NEIBank provides a comprehensive overview of current knowledge of the transcriptional repertoires of eye tissues and their relation to pathology... - A novel mutation in the gene encoding noggin is not causative in human neural tube defectsKim A Bauer
Duke University Medical Center, Durham, North Carolina 27710, USA
J Neurogenet 16:65-71. 2002..DNA sequencing confirmed a C1064A missense mutation predicted to result in the conversion of residue 84 from proline to histidine. The variant found in the NTD patient is a newly identified variant, the role of which is uncertain...