Search Results - "Yen-Pei Christy Chang"
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1
Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita
Published in Proceedings of the National Academy of Sciences - PNAS (01-11-2005)“…Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from this disease is usually due to…”
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Journal Article -
2
Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism
Published in PloS one (30-04-2019)“…For most complex traits, the majority of SNPs identified through genome-wide association studies (GWAS) reside within noncoding regions that have no known…”
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3
Multiple Genes for Essential-Hypertension Susceptibility on Chromosome 1q
Published in American journal of human genetics (01-02-2007)“…Essential hypertension, defined as elevated levels of blood pressure (BP) without any obvious cause, is a major risk factor for coronary heart disease, stroke,…”
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Journal Article -
4
Prediction and Subtyping of Hypertension from Pan-Tissue Transcriptomic and Genetic Analyses
Published in Genetics (Austin) (01-11-2017)“…(HT) is a complex systemic disease involving transcriptional changes in multiple organs. Here we systematically investigate the pan-tissue transcriptional and…”
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5
Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data
Published in Human genetics (01-02-2019)“…In this study, we investigated low-frequency and rare variants associated with blood pressure (BP) by focusing on a linkage region on chromosome 16p13. We used…”
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6
The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program
Published in European journal of human genetics : EJHG (01-04-2006)“…The application of genome-wide linkage scans to uncover susceptibility loci for complex diseases offers great promise for the risk assessment, treatment, and…”
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7
Epigenomic model of cardiac enhancers with application to genome wide association studies
Published in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing (2013)“…Mammalian gene regulation is often mediated by distal enhancer elements, in particular, for tissue specific and developmental genes. Computational…”
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8
OPRM1 rs1799971, COMT rs4680, and FAAH rs324420 genes interact with placebo procedures to induce hypoalgesia
Published in Pain (Amsterdam) (01-08-2019)“…Genetics studies on the placebo hypoalgesic effect highlight a promising link between single nucleotide polymorphisms (SNPs) in the dopamine, opioid, and…”
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Journal Article -
9
OPRM1 rs1799971, COMT rs4680, and FAAH rs324420 genes interact with placebo procedures to induce hypoalgesia
Published in Pain (Amsterdam) (01-08-2019)“…Genetics studies on the placebo hypoalgesic effect highlight a promising link between single nucleotide polymorphisms (SNPs) in the dopamine, opioid, and…”
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Journal Article -
10
Functional characterization of blood pressure‐associated common variants in STK39
Published in The FASEB journal (01-04-2009)“…Abstract only…”
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Journal Article -
11
Multiple Genes for Essential-Hypertension Susceptibility on Chromosome lq
Published in American journal of human genetics (01-02-2007)“…Essential hypertension, defined as elevated levels of blood pressure (BP) without any obvious cause, is a major risk factor for coronary heart disease, stroke,…”
Get full text
Journal Article -
12
Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
Published in Proceedings of the National Academy of Sciences - PNAS (01-11-2005)“…Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from this disease is usually due to…”
Get full text
Journal Article -
13
Genetic and functional analyses of the F cell production locus
Published 01-01-1995“…Fetal hemoglobin (Hb F, $\alpha\sb2\beta\sb2)$ production in adults is confined to a subset of erythrocytes termed F cells. The levels of Hb F and F cells are…”
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Dissertation