Hyaluronan (HA) has long been implicated in malignant transformation and tumor
progression. However, due to the lack of molecular tools to directly manipulate production of …

Targeted disruption of the mouse activin receptor type IIB gene (Acvr2b) results in abnormal
left–right (LR) axis development among Acvr2b−/− homozygotes [Oh and Li, 1997: Genes …

CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to
have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the …

DNA methylation plays a critical role in both embryonic development and tumorigenesis and
is mediated through various DNA methyltransferases. Constitutional mutations in the de …

Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and
function as structural and regulatory molecules. PGs are composed of core proteins and …

" Nagashima-type" palmoplantar keratosis (NPPK) is an autosomal recessive nonsyndromic
diffuse palmoplantar keratosis characterized by well-demarcated diffuse hyperkeratosis with …

Purpose Temple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the
14q32. 2 imprinted region. Here, we report comprehensive molecular and clinical findings in …

A growing body of evidence suggests an association between microdeletion/
microduplication and schizophrenia/intellectual disability. Abnormal neurogenesis and …

The combinatory phenotype of thrombocytopenia and developmental delay has been
described for two genetic conditions: a chromosome 11q deletion that is referred to as …

Using exome analysis, we identified a novel overgrowth syndrome arising from a mutation in
PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized …