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The article highlights that missense mutations in the gene cause a syndromic form of peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy with the help of the cochlear expression database.

Author(s): Stuart D. Tyner [1, 2]; Sundaresan Venkatachalam [2, 3]; Jene Choi [3]; Stephen Jones [4]; Nader Ghebranious [5]; Herbert Igelmann [6]; Xiongbin Lu [3]; Gabrielle Soron [3]; Benjamin Cooper [...]

Korean Shamans were interviewed to study the cause and symptoms of divine possession that they experience. Their characteristic movements and heart beat rates during a ritual were observed. Religious environment and experience, adverse environmental conditions, death or sickness in the family or their illness itself were regarded as causes of shaman illness. An increase in heartbeat and strength, difficulty, and frequency of movements was observed during a possession.

The preparation and functionalization of higher members of the (1n)orthocyclophanes, or (1n)OCPs, were analyzed. The polyoxo derivatives resulted from the oxidation of benzylic methylenes in (1n)OCPs. Realigned isomers of the cyclopolyketal structure resulted from the elaborate oxidation of all methylenes in even-numbered (1n)OCPs. This new breed of crown compounds is designated 'starands.'

The phosphors of the alkali-earth sulfides CaS:Eu and SrS:Eu were studied using x-ray photoelectron spectroscopy. The results showed that CaS:Eu phosphors stabilized against water vapor and carbon dioxide by annealing at high temperature for an extended period of time. Between 900 and 1,100 degrees celsius, the S 2p core level underwent abrupt changes in the chemical state of sulfur changes.

The synthesis of (1sub 4)- and (1sub 5)orthocyclophanes leads to a study of their structures. Condensation of lithiated bis(2-bromophenyl)methane with bis(2-formylphenyl)methane and 1, 2-bis(2-formylbenzyl)benzene followed by oxidation and hydrogenation yields the two cyclophanes. While the (1sub 4) form is so insoluble that it cannot be studied by spectroscopy, the slightly soluble (1sub 5)form is shown to have a flexible conformation. The synthesis of two bicyclic biscyclophanes and their palladium-catalyzed hydrogenation to (1sub 4)- and (1sub 5)orthocyclophanes are also discussed.

The caratenoid biosynthetic pathways of Brevibacterium linens DSMZ 20426 are reconstructed, redesigned and extended with additional carotenoid-modifying enzymes of other sources in a heterologous host Escherichia coli. The results have shown that reconstruction of the biosynthetic pathways and extension with enzymes in a heterologous host can be used as a rational strategy for generating structurally diverse compounds that are hardly accessible in nature.

A rapid and effective screening tool based on a cell-free Escherichia coli-based expression system was developed to identify quorum sensing (QS) molecules of Streptomyces involved in diverse cellular functions, such as virulence, biofilm formation, secondary metabolism, and cell differentiation. The assay system could be applied to successfully confirm SCB1, a [gamma]-butyrolactone molecule in Streptomyces coelicolor, binding to its known receptor, ScbR and could also be used to study other strains for which screening tools for QS molecules is not developed.

The first bifunctional chemosensor (PTZ-DPA) for flavins is described. The studies have shown that because of the selective sensing property, PTZ-DPA is applicable to real-time fluorescent monitoring of riboflavin kinase (riboflavin (RF) to flavin mononucleotide (FMN)), alkaline phosphatase (FMN to RF) and flavin adenine dinucleotide (FAD) synthetase (FMN to FAD).

The individuals' preconceptions regarding the situation-behavior profiles that social groups and the implications of preconceptions for behavioral judgments are examined. Results convey that one may need to challenge perceivers' false beliefs more directly and deeply at the level of the implicit underlying theory.

The procedure of internal injection in the classical microtron driving the terahertz free electron laser (FEL) based on 2D tracking of the acceleration is analyzed. Results defined the effect of the electron back stream during operation of the microtron and the FEL.

An investigation on the origin of high hole conduction in BaCuQF is conducted by photoemission measurements and full-potential linearized augmented plane wave band-structure calculations. In both compounds, the large dispersion near the top of the valence band is realized by admixed states of Cu 3d and S 3p or Se 4p orbitals, indicating that high hole mobility is possible.

An analysis conducted on surface plasmon resonance showed that cobrotoxin directly binds to P50 IKKbeta with high binding affinity. The results demonstrate that cobrotoxin directly binds to the sulfhydryl groups of P50 AND IKKs.

Six exemplary altruists (EA) who were honored individually in an hour-long national television program for their exemplary altruistic behaviors were individually interviewed for 90 to 120 minutes by trained MA-level interviewers. It was observed that many experienced psychological or financial difficulties in their early years and the sense of moral and social responsibility were primary maintainers of the individuals' altruistic behavior.

The evidence for the N-terminal region of the PDHc-E1 subunit from E. coli playing a major role in the interaction with the PDHc-E2 subunit is presented. It is concluded that PDHc-E2 protects N-terminal residues 1-55 of PDHc-E1 selectively from trypsin digestion, notwithstanding the fact that the sequence spanning residues give no interpretable electron density in the high-resolution X-ray structure of E.

Degradation of (Ba, Sr) TiO3 during a forming gas anneal was examined and the effect of a SiO2 capped (Ba, Sr) RuO3 electrode is studied. It is believed that the major cause of the tolerance to the forming gas anneal is the blocking capability of SiO2 against the diffusion of reaction products such as H2O.

The synthesis and functionalization of /16~orthocyclophane is discussed. A new reaction which converted acyclic polyketone to an isomeric polyketal was discovered during the oxidation of /16~orthocyclophane. The polyketal was characterized using x-ray, irradiation spectrum and 1H and 13C nuclear magnetic resonance spectrum analyses. The spectral data suggests that the isomeric polyketal is the spiropolycyclic ketal 7.