Publications by authors named "V E Belova"
Auditory neuropathy spectrum disorder (ANSD) is often missed by standard hearing tests, accounting for up to 10% of hearing impairments (HI) and commonly linked to variants in 23 genes. We assessed 122 children with HI, including 102 with sensorineural hearing loss (SNHL) and 20 with ANSD. SNHL patients were genotyped for common variants using qPCR, while ANSD patients underwent whole exome sequencing, with variants analyzed across 249 genes.
View Article and Find Full Text PDFThe lipopolysaccharide (LPS) was obtained from a bacterium Pseudoalteromonas agarivorans KMM 232 (O-form) isolated from a seawater sample collected at a depth of 500 m. The O-polysaccharide (OPS) was isolated by mild acid degradation of the LPS and studied by chemical methods along with 1D and 2D H and C NMR spectroscopy, including H,H COSY, H,H TOCSY, H,H ROESY and H,C HSQC, and H,C HMBC experiments. The following new structure of the OPS from P.
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- Recent analysis identified over 400 damaging missense ACE mutations, suggesting that carriers of heterozygous loss-of-function ACE mutations may be at risk for late-onset Alzheimer's disease (AD).
- A study measuring blood ACE levels in 41 subjects with different heterozygous mutations revealed that certain mutations (Y215C and G325R) significantly reduced ACE levels, while the R1250Q mutation did not impact ACE levels.
- The findings indicate that measuring blood ACE levels in patients with ACE mutations could help identify those at increased risk for AD, potentially guiding future preventive treatments involving chaperones and proteasome inhibitors to improve ACE function.
Article Synopsis
- Researchers hypothesized that individuals with damaging mutations of the Angiotensin-I-Converting Enzyme (ACE) and low ACE levels may be at risk for late-onset Alzheimer’s disease (AD).
- The study analyzed blood ACE levels in 15 patients with various mutations and confirmed that a common mutation (Y215C) is linked to reduced ACE levels and AD risk.
- Additional mutations were identified that also correlated with decreased ACE levels, suggesting potential risk factors for AD; the research indicates that identifying these mutations may help target individuals who could benefit from specific therapeutic treatments.
The main epidemiological and clinical data on colorectal cancer, as well as the features of molecular pathology, are discussed in the literature review. Efforts are being putto identify promising targets, particularly small non-coding nucleotide sequences, which can lead to new treatments for this disease. The discovery of significant mutations that contribute to the development of colorectal tumors is a major step in the advancement of molecular oncology, as these mutations give rise to heterogeneous tumors that differ in their origin.
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