Background: Hyperuricemia is common in patients with type 2 diabetes mellitus and is
known to cause gout. Sodium–glucose cotransporter-2 (SGLT2) inhibitors prevent glucose …

Cardiomyocytes derived from human embryonic stem (hES) cells potentially offer large
numbers of cells to facilitate repair of the infarcted heart. However, this approach has been …

Importance Converging evidence suggests brain structure alterations may precede overt
cognitive impairment in Alzheimer disease by several decades. Early detection of these …

Patients with mutations of the recombination-activating genes (RAG) present with diverse
clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and …

Background Although autoimmunity and hyperinflammation secondary to recombination
activating gene (RAG) deficiency have been associated with delayed diagnosis and even death…

SCID is approximately 1: 50,000. 3 Recent data from California’s SCID newborn screening
identified RAG1/2 mutations in 28.6% of SCID/OS cases, for an incidence of about 1: 250,000…

Background Ruxolitinib, an orally bioavailable JAK1/JAK2 inhibitor, may treat cancers with
CRLF2 and/or JAK pathway mutations. Procedure A phase 1 trial of ruxolitinib was performed …

Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest
human autosome with orthology to only a single mouse chromosome 1 , mapping entirely …

We performed an extensive immunogenomic analysis of more than 10,000 tumors comprising
33 diverse cancer types by utilizing data compiled by TCGA. Across cancer types, we …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …