Search Results - "APONTE, Jennifer L"
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Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway
Published in PloS one (01-11-2017)“…A phenome-wide association study of variants in genes in the Th17 and IL-17 pathway was performed using self-reported phenotypes and genetic data from 521,000…”
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Performance of genotype imputation for rare variants identified in exons and flanking regions of genes
Published in PloS one (19-09-2011)“…Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance…”
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Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes
Published in Human molecular genetics (01-08-2018)“…Abstract Rosacea is a common, chronic skin disease of variable severity with limited treatment options. The cause of rosacea is unknown, but it is believed to…”
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Point Mutations in the Murine Fumarylacetoacetate Hydrolase Gene: Animal Models for the Human Genetic Disorder Hereditary Tyrosinemia Type 1
Published in Proceedings of the National Academy of Sciences - PNAS (16-01-2001)“…Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease associated with point mutations in the human fumarylacetoacetate…”
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Deep Resequencing Unveils Genetic Architecture of ADIPOQ and Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation
Published in Diabetes (New York, N.Y.) (01-05-2012)“…Increased adiponectin levels have been shown to be associated with a lower risk of type 2 diabetes. To understand the relations between genetic variation at…”
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MO802: Genetics Plays a Limited Role in ESA-Hyporesponsiveness and Haemoglobin Outcomes in End-Stage Renal Disease Patients on Haemodialysis
Published in Nephrology, dialysis, transplantation (03-05-2022)“…Abstract BACKGROUND AND AIMS Patients with end-stage renal disease on haemodialysis (HD) frequently have resistance or hyporesponsiveness (hypoR) to…”
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