Characterization of -mutant mice with microcytic phenotypes.

To identify novel regulators of erythropoiesis, we performed independent forward genetic screens using the chemical mutagen ENU in mice. Among progeny displaying microcytic red-cell phenotypes, 7 independent mouse strains harboring mutations within the transferrin receptor gene were identified. Six of the mutants, including the previously described red blood cell 6 (RBC6) strain, displayed reduced erythroblast CD71 expression and midgestation lethality of homozygotes (E12.

Loss of Dynamin 2 GTPase function results in microcytic anaemia.

In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial GTP nucleotide-binding pocket of Dnm2, and resulted in defective GTPase activity and incompatibility with life in the homozygous state.

[Usefulness of gastric emptying scintigraphy for the evaluation and management of scleroderma related gastroparesis].

Scleroderma is a chronic autoimmune disease of unknown cause characterized by fibrotic skin and multiple organs involvement, including the gastrointestinal tract. It occurs mainly in women between 35 and 65 years of age. It is classified as limited or diffuse based on the extent of skin involvement.

Property Criteria for Automotive Al-Mg-Si Sheet Alloys.

In this study, property criteria for automotive Al-Mg-Si sheet alloys are outlined and investigated in the context of commercial alloys AA6016, AA6005A, AA6063 and AA6013. The parameters crucial to predicting forming behavior were determined by tensile tests, bending tests, cross-die tests, hole-expansion tests and forming limit curve analysis in the pre-aged temper after various storage periods following sheet production. Roping tests were performed to evaluate surface quality, for the deployment of these alloys as an outer panel material.