Search Results - "Chao, Michael J"
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Cholesterol and matrisome pathways dysregulated in astrocytes and microglia
Published in Cell (23-06-2022)“…The impact of apolipoprotein E ε4 (APOE4), the strongest genetic risk factor for Alzheimer's disease (AD), on human brain cellular function remains unclear…”
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Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB11501 is regulated by vitamin D
Published in PLoS genetics (01-02-2009)“…Multiple sclerosis (MS) is a complex trait in which allelic variation in the MHC class II region exerts the single strongest effect on genetic risk…”
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3
A modifier of Huntington's disease onset at the MLH1 locus
Published in Human molecular genetics (01-10-2017)“…Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by an expanded CAG repeat in HTT. Many clinical characteristics of HD such…”
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4
Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases
Published in Nature communications (20-08-2021)“…Identification of causal variants and genes underlying genome-wide association study (GWAS) loci is essential to understand the biology of alcohol use disorder…”
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5
Population-specific genetic modification of Huntington's disease in Venezuela
Published in PLoS genetics (11-05-2018)“…Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study…”
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Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase
Published in American journal of human genetics (06-09-2018)“…Age at onset of Huntington disease, an inherited neurodegenerative disorder, is influenced by the size of the disease-causing CAG trinucleotide repeat…”
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Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility
Published in Proceedings of the National Academy of Sciences - PNAS (05-05-2009)“…Multiple sclerosis (MS), a common central nervous system inflammatory disease, has a major heritable component. Susceptibility is associated with the MHC class…”
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Sequence-Level Analysis of the Major European Huntington Disease Haplotype
Published in American journal of human genetics (03-09-2015)“…Huntington disease (HD) reflects the dominant consequences of a CAG-repeat expansion in HTT. Analysis of common SNP-based haplotypes has revealed that most…”
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9
The inheritance of resistance alleles in multiple sclerosis
Published in PLoS genetics (01-09-2007)“…Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk…”
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10
HLA class I alleles tag HLA-DRB11501 haplotypes for differential risk in multiple sclerosis susceptibility
Published in Proceedings of the National Academy of Sciences - PNAS (02-09-2008)“…The major locus for multiple sclerosis (MS) susceptibility is located within the class II region of the Major Histocompatibility Complex (MHC). HLA-DRB1…”
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11
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9
Published in Human molecular genetics (15-10-2016)“…A comprehensive genetics-based precision medicine strategy to selectively and permanently inactivate only mutant, not normal allele, could benefit many…”
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Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Published in Cell (30-07-2015)“…As a Mendelian neurodegenerative disorder, the genetic risk of Huntington’s disease (HD) is conferred entirely by an HTT CAG repeat expansion whose length is…”
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Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
Published in American journal of human genetics (02-07-2020)“…A recent genome-wide association study of Huntington disease (HD) implicated genes involved in DNA maintenance processes as modifiers of onset, including…”
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Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
Published in Nature neuroscience (01-04-2022)“…The age at onset of motor symptoms in Huntington’s disease (HD) is driven by HTT CAG repeat length but modified by other genes. In this study, we used exome…”
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15
Sex differences in the genetic predictors of Alzheimer's pathology
Published in Brain (London, England : 1878) (01-09-2019)“…Autopsy measures of Alzheimer's disease neuropathology have been leveraged as endophenotypes in previous genome-wide association studies (GWAS). However,…”
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Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease
Published in Biological psychiatry (1969) (01-05-2020)“…Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene. It is diagnosed following a standardized…”
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Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis
Published in The American journal of clinical nutrition (01-08-2008)“…BACKGROUND: Multiple sclerosis (MS) risk is determined by both genes and environment. One of the most striking features of MS is its geographic distribution,…”
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Polygenic contributions to alcohol use and alcohol use disorders across population-based and clinically ascertained samples
Published in Psychological medicine (01-05-2021)“…Studies suggest that alcohol consumption and alcohol use disorders have distinct genetic backgrounds. We examined whether polygenic risk scores (PRS) for…”
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Haplotype-based stratification of Huntington's disease
Published in European journal of human genetics : EJHG (01-11-2017)“…Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended…”
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Methylation of class II transactivator gene promoter IV is not associated with susceptibility to multiple sclerosis
Published in BMC medical genetics (07-07-2008)“…Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The…”
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