M A Hauser

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. ncbi request reprint Myotilin is mutated in limb girdle muscular dystrophy 1A
    M 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
  2. pmc myotilin Mutation found in second pedigree with LGMD1A
    Michael A Hauser
    Duke University, Durham, NC 27710, USA
    Am J Hum Genet 71:1428-32. 2002
  3. pmc Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease
    E R Martin
    Center for Human Genetics, Box 2903, Duke University Medical Center, Durham, NC 27710, USA
    JAMA 286:2245-50. 2001
  4. pmc Production and characterization of improved adenovirus vectors with the E1, E2b, and E3 genes deleted
    A Amalfitano
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Virol 72:926-33. 1998
  5. ncbi request reprint Apolipoprotein E controls the risk and age at onset of Parkinson disease
    Y J Li
    Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Neurology 62:2005-9. 2004
  6. ncbi request reprint Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa
    P Challa
    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27712, USA
    J Glaucoma 11:416-20. 2002
  7. ncbi request reprint Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration
    Kylee L Spencer
    Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
    Hum Mol Genet 16:1986-92. 2007
  8. ncbi request reprint Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration
    William K Scott
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Ophthalmology 114:1151-6. 2007
  9. pmc Molecular markers of early Parkinson's disease based on gene expression in blood
    Clemens 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
  10. ncbi request reprint Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism
    R Keith Shuler
    Eye Center and Center for Human Genetics, Duke University, Durham, NC, USA
    Arch Ophthalmol 125:63-7. 2007

Collaborators

Detail Information

Publications40

  1. ncbi request reprint Myotilin is mutated in limb girdle muscular dystrophy 1A
    M 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...
  2. pmc myotilin Mutation found in second pedigree with LGMD1A
    Michael 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...
  3. pmc Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease
    E 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...
  4. pmc Production and characterization of improved adenovirus vectors with the E1, E2b, and E3 genes deleted
    A 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...
  5. ncbi request reprint Apolipoprotein E controls the risk and age at onset of Parkinson disease
    Y 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...
  6. ncbi request reprint Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa
    P 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...
  7. ncbi request reprint Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration
    Kylee 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...
  8. ncbi request reprint Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration
    William 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)...
  9. pmc Molecular markers of early Parkinson's disease based on gene expression in blood
    Clemens 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...
  10. ncbi request reprint Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism
    R 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)...
  11. ncbi request reprint Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease
    Sun 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...
  12. ncbi request reprint Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States
    Michael A Hauser
    Center for Human Genetics Duke School of Medicine, Harvard Medical School, Boston, MA 02114, USA
    J Glaucoma 15:358-63. 2006
    ....
  13. ncbi request reprint Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration
    Kylee 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...
  14. ncbi request reprint Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration
    R 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)...
  15. ncbi request reprint Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration
    R 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)...
  16. ncbi request reprint No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations
    Yutao Liu
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Mol Vis 13:2137-41. 2007
    ....
  17. ncbi request reprint Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration
    Kylee 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...
  18. pmc Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma
    Pratap 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...
  19. doi request reprint Myotilin overexpression enhances myopathology in the LGMD1A mouse model
    Sean 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...
  20. pmc Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations
    Yutao 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...
  21. pmc Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration
    Jeffrey 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...
  22. ncbi request reprint Complement factor H increases risk for atrophic age-related macular degeneration
    Eric 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)...
  23. ncbi request reprint NOS2A and the modulating effect of cigarette smoking in Parkinson's disease
    Dana 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...
  24. ncbi request reprint Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM
    Sean 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...
  25. ncbi request reprint Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage
    Michael 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...
  26. ncbi request reprint Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
    Yi 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...
  27. pmc Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease
    Joelle 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...
  28. pmc A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study
    Elizabeth 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...
  29. ncbi request reprint Complement factor H variant increases the risk of age-related macular degeneration
    Jonathan 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...
  30. ncbi request reprint Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease
    Maher 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...
  31. pmc Early adult-onset POAG linked to 15q11-13 using ordered subset analysis
    R 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...
  32. ncbi request reprint Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism
    Michael 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...
  33. ncbi request reprint Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra
    Maher 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...
  34. pmc SNPselector: a web tool for selecting SNPs for genetic association studies
    Hong 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...
  35. pmc Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration
    Silke 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...
  36. ncbi request reprint 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...
  37. pmc Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE
    Catherine Bowes Rickman
    Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
    Invest Ophthalmol Vis Sci 47:2305-16. 2006
    ....
  38. ncbi request reprint Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma
    Michael 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...
  39. pmc NEIBank: genomics and bioinformatics resources for vision research
    Graeme 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...
  40. ncbi request reprint A novel mutation in the gene encoding noggin is not causative in human neural tube defects
    Kim 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...