Human pigmentary disorders encompass a broad spectrum of phenotypic changes arising
from disruptions in various stages of melanocyte formation, the melanogenesis process, or …

Abstract Purpose of Review Craniofacial disorders are among the most common human
birth defects and present an enormous health care and social burden. The development of …

Since electronic cigarette (ECIG) introduction to American markets in 2007, va** has
surged in popularity. Many, including women of reproductive age, also believe that ECIG …

During the biosynthesis of chondroitin/dermatan sulfate (CS/DS), a variable fraction of
glucuronic acid is converted to iduronic acid through the activities of two epimerases …

Abstract Musculocontractural Ehlers-Danlos syndrome (mcEDS) is an autosomal recessive
condition characterized by distinct craniofacial features, multisystem congenital …

Chondrodysplasias with multiple dislocations form a group of severe disorders
characterized by joint laxity and multiple dislocations, severe short stature of pre-and post …

Background Ontologies of precisely defined, controlled vocabularies are essential to curate
the results of biological experiments such that the data are machine searchable, can be …

We previously showed that SerpinE2 and the serine protease HtrA1 modulate fibroblast
growth factor (FGF) signaling in germ layer specification and head-to-tail development of …

Dermatan sulfate (DS) and its proteoglycans are essential for the assembly of the
extracellular matrix and cell signaling. Various transporters and biosynthetic enzymes for …

Aim of the study: Generalized joint hypermobility (GJH) is a common feature of almost all
Ehlers–Danlos syndrome (EDS) types; however, its genetic basis remains unclear …