Huntington disease is devastating to patients and their families—with autosomal dominant
inheritance, onset typically in the prime of adult life, progressive course, and a combination …

Background The topical role of uric acid and its relation to cardiovascular disease, renal
disease, and hypertension is rapidly evolving. Its important role both historically and …

Huntington disease (HD) is an inherited neuropsychiatric illness caused by polyglutamine
expansion in the gene for the protein huntingtin (HTT)[Huntington's Disease Collaborative …

Abstract The Apache Point Observatory Galactic Evolution Experiment (APOGEE), one of the
programs in the Sloan Digital Sky Survey III (SDSS-III), has now completed its systematic …

Huntingtin is a 350-kilodalton protein of unknown function that is mutated in Huntington's
disease (HD), a neurodegenerative disorder. The mutant protein is presumed to acquire a …

Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C)
levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage …

Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in
a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found …

Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload
resulting in cardiomyopathy, diabetes and hypogonadism that presents in the teens and …

We have produced yeast artificial chromosome (YAC) transgenic mice expressing normal
(YAC18) and mutant (YAC46 and YAC72) huntingtin (htt) in a developmental and tissue …

Huntingtin protein is mutated in Huntington disease. We previously reported that wild-type
but not mutant huntingtin stimulates transcription of the gene encoding brain-derived …