Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a... mehr

The mutational deterministic hypothesis for the origin and maintenance of sexual reproduction posits that sex enhances the ability of natural selection to purge deleterious mutations after recombination brings them together into single genomes. This explanation requires negative epistasis, a type... mehr

Two nonnatural proline derivatives, ( S)- and ( R)-7-azaindoline α-amino acid have been prepared and isolated as their trifluoroacetate salt on gram scale. The convergent sequence (6 steps from 2-bromopyridine) employs a combination of enantioselective phase transfer catalyzed glycine alkylation... mehr

Multiple organs cooperate to regulate appetite, metabolism, and glucose and fatty acid homeostasis. Here, we identified and characterized lymphatic vasculature dysfunction as a cause of adult-onset obesity. We found that functional inactivation of a single allele of the homeobox gene Prox1 led to... mehr

The relationship of the recently proposed tokamak with spheromak shell (STSS) with other compact equilibria in the low aspect ratio A regime, e.g., spherical tokamaks, field reversed configurations, is studied. It is shown that these equilibria are complementary to equilibria with a magnetic hole... mehr

We report on an indium–silicon co-doping approach for high-Al-content AlGaN layers. Using this approach, very smooth crack-free n-type AlGaN films as thick as 0.5 μm with Al mole fraction up to 40% were grown over sapphire substrates. The maximum electron concentration in the layers, as... mehr

In the title compound, 2 C9H11NO2·H+·NO3−, both phenylalanine residues have a gauche I conformation. The aggregation of the hydrophilic zone is along z = 0 and the hydrophobic zone is sandwiched between two such layers at z = 0 and z = 1. mehr

In the title compound, 2C6H15N2O2+·H+·ClO4−·2Cl−, the two mono- and dicationic lysinium molecules are held together by strong O—H...O hydrogen bonds. Both the perchlorate and chloride anions link molecules 1 and 2 through the α-amino and ε-amino groups into infinite chains along the a... mehr

In the title compound, 2C8H10NO2+·SO42−·H2O, the cations exist as two crystallographically independent molecules in the asymmetric unit. In the crystal, these molecules are linked by the sulfate ion through strong O—H...O hydrogen bonds; the phenylglycinium cations, sulfate anion and water... mehr