Transepithelial Cl− and HCO3− transport is critically important for the function of all epithelia
and, when altered or ablated, leads to a number of diseases, including cystic fibrosis …

Heparin and heparan sulfate share the same polysaccharide backbone structure but differ in
sulfation degree and expression pattern. Whereas heparan sulfate is found in virtually all …

The osteochondrodysplasias are a genetically heterogeneous group of disorders affecting
skeletal development, linear growth and the maintenance of cartilage and bone. We have …

Osteoporosis is a common polygenic disease and global healthcare priority but its genetic
basis remains largely unknown. We report a high-throughput multi-parameter phenotype …

Mesenchymal cell condensation is the initiating event in endochondral bone formation. Cell
condensation is followed by differentiation into chondrocytes, which is accompanied by …

Prestin is a unique molecular-motor protein expressed in the lateral plasma membrane of
outer hair cells (OHC) in the organ of Corti of the mammalian cochlea. It is thought that …

Although inorganic sulfate is an essential and ubiquitous anion in human biology, it is
infrequently assayed in clinical chemistry today. Serum sulfate is difficult to measure …

THE FOCUS OF THIS CHAPTER IS on the structure, biosynthesis, and general biology of
proteoglycans. Topics include a description of the major families of proteoglycans, their …

Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined
conditions, affecting bone and cartilage growth and development. The genetic mutations …

Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by pathogenic variants
in the SLC26A2 gene encoding for a cell membrane sulfate/chloride antiporter crucial for …