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Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension
Thiazolidinediones are a new class of antidiabetic agent that improve insulin sensitivity and reduce plasma glucose and blood pressure in subjects with type 2 diabetes. Although these agents can bindExpand
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A comprehensive study of clinical, biochemical, radiological, vascular, cardiac, and sleep parameters in an unselected cohort of patients with acromegaly undergoing presurgical somatostatin receptor
CONTEXT Attainment of safe GH and IGF-1 levels is a central goal of acromegaly management. OBJECTIVE The aim of this study was to determine the extent to which reductions in GH and IGF-1Expand
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A mutation in the thyroid hormone receptor alpha gene.
Thyroid hormones exert their effects through alpha (TRα1) and beta (TRβ1 and TRβ2) receptors. Here we describe a child with classic features of hypothyroidism (growth retardation, developmentalExpand
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Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance
Summary PPARγ is essential for adipogenesis and metabolic homeostasis. We describe mutations in the DNA and ligand binding domains of human PPARγ in lipodystrophic, severe insulin resistance. TheseExpand
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Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
BACKGROUND The thyroid hormone receptor α gene (THRA) transcript is alternatively spliced to generate either thyroid hormone receptor (TR)α1 or a non-hormone-binding variant protein, TRα2, theExpand
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An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
CONTEXT The first human cases (female, age 6 y; father and daughter, ages 47 and 11 y, respectively) with growth retardation/short stature, skeletal dysplasia, constipation, and defective thyroidExpand
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Low DHEAS: A Sensitive and Specific Test for the Detection of Subclinical Hypercortisolism in Adrenal Incidentalomas
Context Subclinical hypercortisolism (SH) occurs in 5% to 30% of adrenal incidentalomas (AIs). Common screening tests for adrenocorticotropin-independent hypercortisolism have substantialExpand
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Second-to-fourth digit ratio predicts success among high-frequency financial traders
Prenatal androgens have important organizing effects on brain development and future behavior. The second-to-fourth digit length ratio (2D:4D) has been proposed as a marker of these prenatal androgenExpand
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Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations.
Recent discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas with distinct clinical presentations and pathological features. Here we describe threeExpand
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Elevated plasma adiponectin in humans with genetically defective insulin receptors.
CONTEXT Adiponectin has been suggested to play a role in the etiopathogenesis of at least some forms of insulin resistance, in part based on a strong correlation between plasma levels of adiponectinExpand
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