Unraveling the function and structure impact of deleterious missense SNPs in the human OX1R receptor by computational analysis

M Farajzadeh-Dehkordi, L Mafakher, A Harifi… - Scientific Reports, 2024 - nature.com
The orexin/hypocretin receptor type 1 (OX1R) plays a crucial role in regulating various
physiological functions, especially feeding behavior, addiction, and reward. Genetic …

Exploring α-synuclein stability under the external electrostatic field: effect of repeat unit

J Khursandov, R Mashalov, M Makhkamov… - Journal of Structural …, 2024 - Elsevier
Parkinson's disease (PD) is a category of neurodegenerative disorders (ND) that currently
lack comprehensive and definitive treatment strategies. The etiology of PD can be attributed …

[HTML][HTML] Identification of functional rare coding variants in IGF-1 gene in humans with exceptional longevity

A Ali, Z Zhang, T Gao, S Aleksic, E Gavathiotis… - …, 2024 - pmc.ncbi.nlm.nih.gov
Diminished signaling via insulin/insulin-like growth factor-1 (IGF-1) axis is associated with
longevity in different model organisms. IGF-1 gene is highly conserved across species, with …

[PDF][PDF] An In silico Analysis of Deleterious Single Nucleotide Polymorphisms of Human Lysozyme C Gene

HV Subbiah, U Subbiah - Research Perspectives of Microbiology …, 2024 - researchgate.net
ABSTRACT Background: Single nucleotide polymorphisms (SNPs) play a critical role in
influencing a person's susceptibility to diseases and in determining how an individual reacts …

[PDF][PDF] Hennekam syndrome: literature review.

AM Messova, KD Akimzhanov, O Yurkovskaya… - 2023 - newjournal.ssmu.kz
Introduction Hennekam syndrome is an autosomal recessive disease with
lymphangiectasia, severe peripheral lymphedema, abnormalities of the face, cramps, mild …