HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.

Cranio-osteoarthropathy, clinically classified as a variant of primary hypertrophic osteoarthropathy, is a very rare autosomal-recessive condition characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Recently, mutations in the gene HPGD, which encodes the NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase, were reported in four families affected with primary hypertrophic osteoarthropathy and one family with autosomal-recessive isolated nail clubbing. We report the clinical and molecular findings in four patients from two families affected with cranio-osteoarthropathy and one family with isolated, autosomal dominant digital clubbing.

Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta.

Vitamin E has been linked to fertility since its discovery in 1922. However, the exact mechanism by which alpha-tocopherol allows pregnancy to continue until term has remained puzzling over the last 80 years. Alpha-tocopherol transfer protein (TTPA) is expressed in liver and in Purkinje cells of the cerebellum.

Effects of protein kinase C on delayed rectifier K+ channel regulation by tyrosine kinase in rat retinal pigment epithelial cells.

Purpose: Investigation of the regulation of delayed rectifier potassium channels by protein kinases in retinal pigment epithelial (RPE) cells.

Methods: Membrane currents of cultured RPE cells were measured in either the perforated-patch or whole-cell configuration of the patch-clamp technique.

Results: Different potassium channel blockers from animal venoms (charybdotoxin, hanatoxin, agitoxin, tityustoxin) were used to identify the delayed rectifying outward current in RPE cells as current through potassium channels, mainly composed of Kv1.