The RAS proteins and their downstream pathways play pivotal roles in cell proliferation,
differentiation, survival and cell death, but their physiological roles in human development …

Moyamoya disease is characterized by a progressive stenosis at the terminal portion of the
internal carotid artery and an abnormal vascular network at the base of the brain. Although …

Although a large sample size is useful for the elucidation of what is called 'missing
heritability', which is an unexplained part of a total phenotypic variance in a quantitative trait …

Costello syndrome is a multiple congenital anomaly and mental retardation syndrome
characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We …

Moyamoya disease (MMD) shows progressive cerebral angiopathy characterized by
bilateral internal carotid artery stenosis and abnormal collateral vessels. Although∼ 15% of …

Abstract Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial
appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan …

Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia
after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine …

Abstract The Tohoku Medical Megabank Organization reports the whole-genome
sequences of 1,070 healthy Japanese individuals and construction of a Japanese …

ABSTRACT The Great East Japan Earthquake (GEJE) and resulting tsunami of March 11,
2011 gave rise to devastating damage on the Pacific coast of the Tohoku region. The …

Mutations in the connexin 26 gene (GJB2), which encodes a gap‐junction protein and is
expressed in the inner ear, have been shown to be responsible for a major part of …