Publications by authors named "A Pluzhnikov"

Article Synopsis
  • T4-binding globulin (TBG) is crucial for transporting thyroid hormones in the blood, and deficiencies can occur without showing significant symptoms or gene mutations in some families.
  • This study investigated four families with TBG deficiency lacking recognizable mutations in the TBG gene, using advanced genetic and biochemical analyses.
  • Researchers discovered a novel genetic variant near the TBG gene that reduces enhancer activity, marking the first documented case of an endocrine disorder linked to a mutation in an enhancer region.
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Maternal metabolism during pregnancy impacts the developing fetus, affecting offspring birth weight and adiposity. This has important implications for metabolic health later in life (e.g.

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Background: VKORC1 and CYP2C9 are important contributors to warfarin dose variability, but explain less variability for individuals of African descent than for those of European or Asian descent. We aimed to identify additional variants contributing to warfarin dose requirements in African Americans.

Methods: We did a genome-wide association study of discovery and replication cohorts.

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Newborns characterized as large and small for gestational age are at risk for increased mortality and morbidity during the first year of life as well as for obesity and dysglycemia as children and adults. The intrauterine environment and fetal genes contribute to the fetal size at birth. To define the genetic architecture underlying the newborn size, we performed a genome-wide association study (GWAS) in 4281 newborns in four ethnic groups from the Hyperglycemia and Adverse Pregnancy Outcome Study.

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Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada.

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