It is demonstrated that using HSE06 gives a much more accurate el

It is demonstrated that using HSE06 gives a much more accurate electronic description of the vacancy and

yields an excellent estimate of the activation energy of self-diffusion in Ge consistent with experimental data. The migration energies of the vacancy in different charge states calculated with the HSE06 approach agree well with the results of low-temperature infrared-absorption measurements. In contrast selleck products to previous results, the HSE06 calculations suggest that vacancies in Ge are multiple-level acceptors with levels located in the upper half of the bandgap. This can explain the observed high density of acceptor-like interface traps near the conduction band, pinning the Fermi level and inhibiting the formation of an inversion layer in n-channel devices in Ge. (C) 2011 American Institute of Physics. [doi: 10.1063/1.3642953]“
“Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by mutations in either the TSC1 (encodes hamartin) or TSC2 (encodes tuberin) genes. Patients with TSC have hamartomas in various organs throughout the whole body, most notably in the brain, skin, eye, heart, kidney and lung. To study the development of hamartomas, we generated a zebrafish model of TSC featuring a nonsense mutation (vu242) in the tsc2 CCI-779 mouse gene. This tsc(2vu242) allele

encodes a truncated Tuberin protein lacking the GAP domain, which is required for inhibition of Rheb and of the TOR kinase within TORC1. We show that tsc(2vu242) is a recessive larval-lethal mutation that causes increased cell size in the brain and liver. Greatly elevated TORC1 signaling is observed in tsc2(vu242/vu242) homozygous zebrafish, and is moderately increased in tsc2(vu242/+) heterozygotes. Forebrain neurons are poorly organized in tsc2(vu242/vu242) homozygous mutants, which have extensive gray and white matter disorganization and ectopically positioned cells. Genetic https://www.selleckchem.com/products/birinapant-tl32711.html mosaic analyses demonstrate that tsc2 limits TORC1 signaling in a cell-autonomous manner. However, in

chimeric animals, tsc2(vu242/vu242) mutant cells also mislocalize wild-type host cells in the forebrain in a non-cell-autonomous manner. These results demonstrate a highly conserved role of tsc2 in zebrafish and establish a new animal model for studies of TSC. The finding of a non-cell-autonomous function of mutant cells might help explain the formation of brain hamartomas and cortical malformations in human TSC.”
“Refsum disease is a genetic progressive neurological disorder caused by neurotoxic phytanic acid, a nutritional component patients are unable to metabolize. Symptoms include retinopathy, polyneuropathy, ataxia, and deafness. They are variable and rarely recognized before adulthood. The authors report the case of a 14-year-old girl diagnosed because of night blindness. They treated her with a phytanic acid-poor diet and extracorporeal lipid apheresis. They used different methods over a 30-month period.

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