A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia.

The gene PTRH2 encodes a protein with peptidyl-tRNA hydrolase activity and is involved in the translation process in protein synthesis. The kinesin family member 1-A (KIF1A) gene encodes a molecular motor involved in axonal transport along microtubules. Mutations in these genes lead to respective phenotypical conditions that have been reported in the literature.

A comparative study on vibrational, conformational and electronic structure of α,α'-diol-o-xylene, α,α'-diol-m-xylene and α,α'-diol-p-xylene.

The Fourier transform infrared (FTIR) and FT-Raman spectra of α,α'-diol-o-xylene (DOLOX), α,α'-diol-m-xylene (DOLMX) and α,α'-diol-p-xylene (DOLPX) of the configuration HOCH(2)-C(6)H(4)-CH(2)OH have been recorded in the range 4000-400 and 4000-100 cm(-1), respectively. The most stable geometry of the compounds was determined by conformational analysis. The complete vibrational assignment and analysis of the fundamental modes of the most stable conformer of the compounds were carried out using the experimental FTIR and FT-Raman data and quantum chemical studies.

Vibrational, conformational and electronic structure investigations of α,α'-dibromo-o-xylene, α,α'-dibromo-m-xylene and α,α'-dibromo-p-xylene.

The Fourier transform infrared (FTIR) and FT-Raman spectra of α,α'-dibromo-o-xylene (DBOX), α,α'-dibromo-m-xylene (DBMX) and α,α'-dibromo-p-xylene (DBPX) of the configuration BrCH(2)C(6)H(4)CH(2)Br have been recorded in the range 4000-400 and 4000-100 cm(-1), respectively. The conformational analysis of these compounds was performed. The complete vibrational assignment and analysis of the fundamental modes of the most stable conformer of the compounds were carried out using the experimental FTIR and FT-Raman data, and quantum mechanical studies.

FTIR, FT-Raman, FT-NMR, UV-visible and quantum chemical investigations of 2-amino-4-methylbenzothiazole.

The FT-IR (4000-400 cm(-1)) and FT-Raman (4000-100 cm(-1)) spectral measurements and complete assignments of the observed spectra of 2-amino-4-methylbenzothiazole (2A4MBT) have been proposed. Ab initio and DFT calculations have been performed and the structural parameters of the compound were determined from the optimised geometry with 6-31G(d,p), 6-311++G(d,p) and cc-pVDZ basis sets and giving energies, harmonic vibrational frequencies, depolarisation ratios, IR intensities and Raman activities. (1)H and (13)C NMR spectra were recorded and (1)H and (13)C nuclear magnetic resonance chemical shifts of the molecule were calculated using the gauge independent atomic orbital (GIAO) method.