Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, and frequently, delayed age of onset. We report the clinical an...

In this study we aim to correct mutations within COL7A1 that cause malfunction, reduction or complete absence of type VII collagen in the skin’s basement membrane zone (BMZ), leading dystrophic epidermolysis bullosa (DEB), a severe and rare skin blistering disease associated with high risk cancer as well increased mortality. Therefore, use 3’-RTMS6m repair molecule develop safe, non-viral, non-...

The role of Na(+)/Ca(2+) exchange in regulating intracellular Ca(2+) concentration ([Ca(2+)](i)) in isolated smooth muscle cells from the guinea pig urinary bladder was investigated. Incremental reduction of extracellular Na(+) concentration resulted in a graded rise of [Ca(2+)](i); 50-100 microM strophanthidin also increased [Ca(2+)](i). A small outward current accompanied the rise of [Ca(2+)]...

Balloon angioplasty revolutionized coronary revascularization; however, elastic recoil and restenosis caused by cellular proliferation are major drawbacks of angioplasty. Intracoronary stenting, which could tackle dissections and eliminate elastic recoil, became the next mode of intervention but was limited by stent thrombosis and increased neointimal hyperplasia, leading to in-stent restenosis...

Balloon angioplasty revolutionized coronary revascularization; however, elastic recoil and restenosis caused by cellular proliferation are major drawbacks of angioplasty. Intracoronary stenting, which could tackle dissections and eliminate elastic recoil, became the next mode of intervention but was limited by stent thrombosis and increased neointimal hyperplasia, leading to in-stent restenosis...

The quality of life of people with epidermolysis bullosa (EB) living in Scotland was assessed by postal questionnaire using the Dermatology Life Quality Index (DLQI) and the Children's Dermatology Life Quality Index (CDLQI). There were 143 people with EB simplex (EBS) and 99 individuals with non-Hallopeau--Siemens subtypes of dystrophic EB (DEB). A further six individuals had the severe Hallope...

Diepoxybutane (DEB) is an established mutagen that induces chromosome damage following in vitro treatment of peripheral blood lymphocytes. It is widely used to identify patients with Fanconi Anemia (FA), a clinical situation that is characterized, besides the hypersensitivity to DEB, by an elevated foetal haemoglobin (HbF) content in the peripheral blood. In a previous study, we showed that red...

LIPTON, PETER. E$ect of changes in osmolarity on sodium transport across isolated toad bladder. Am. J. Physiol. 222(4) : 82 l-828. 1972. -Reducing the osmolarity of the solution bathing the serosal surface of the isolated toad bladder by one-third (hypotonicity) doubled short-circuit current (SCC) across the tissue (osmotic response). 22Na tracer studies showed that in the steady state this was...