OBJECTIVES: Premature activation of the digestive protease trypsin within the pancreatic
parenchyma is a critical factor in the pathogenesis of pancreatitis. Alterations in genes that …

The first genome-wide association study of fulminant type 1 diabetes was performed in
Japanese individuals. As previously reported using a candidate gene approach, a strong …

Abstract Background and Aims Genome-wide association studies [GWASs] of European
populations have identified numerous susceptibility loci for Crohn's disease [CD] …

Background & Aims Primary biliary cholangitis (PBC) is a chronic and cholestatic liver
disease that eventually leads to cirrhosis and hepatic failure. We recently identified several …

Background The stimulatory G-protein α-subunit encoded by GNAS exons 1–13 (GNAS-
Gsα) mediates signal transduction of multiple G protein–coupled receptors, including …

Neuronal ceroid Lipofuscinosis (NCL), inherited disorders of lysosomal storage disorders,
constitute the most common progressive encephalopathies with an incidence of 1.3 to 7 in …

Incidence rates of Mendelian diseases vary among ethnic groups, and frequencies of variant
types of causative genes also vary among human populations. In this study, we examined to …

A 6-month-old infant was brought to the hospital with fever, vomiting, loose stools, and
abdominal distension. The venous blood sample was sent to the hematology laboratory for …

Objectives The aim of this study was to determine the chromosomal abnormalities and other
adverse outcomes like miscarriages, intrauterine deaths, structural defects, and genetic …

Paraganglioma (PGL) is a rare tumor originating from extra-adrenal paraganglionic
chromaffin tissues, and most sympathetic PGLs have excessive catecholamine secretion …