Resources and tools for rare disease variant interpretation
Collectively, rare genetic disorders affect a substantial portion of the world's population. In
most cases, those affected face difficulties in receiving a clinical diagnosis and genetic …
most cases, those affected face difficulties in receiving a clinical diagnosis and genetic …
The emerging roles of PHOSPHO1 and its regulated phospholipid homeostasis in metabolic disorders
Y Liu, Y Wu, M Jiang - Frontiers in Physiology, 2022 - frontiersin.org
Emerging evidence suggests that phosphoethanolamine/phosphocholine phosphatase 1
(PHOSPHO1), a specific phosphoethanolamine and phosphocholine phosphatase, is …
(PHOSPHO1), a specific phosphoethanolamine and phosphocholine phosphatase, is …
Natural compound targeting BDNF V66M variant: insights from in silico docking and molecular analysis
Abstract Brain-Derived Neurotrophic Factor (BDNF) is a neurotrophin gene family gene that
encodes proteins vital for the growth, maintenance, and survival of neurons in the nervous …
encodes proteins vital for the growth, maintenance, and survival of neurons in the nervous …
Exploring the ability of the MD+ FoldX method to predict SARS-CoV-2 antibody escape mutations using large-scale data
Antibody escape mutations pose a significant challenge to the effectiveness of vaccines and
antibody-based therapies. The ability to predict these escape mutations with computer …
antibody-based therapies. The ability to predict these escape mutations with computer …
Comparing Supervised Learning and Rigorous Approach for Predicting Protein Stability upon Point Mutations in Difficult Targets
J Kurniawan, T Ishida - Journal of Chemical Information and …, 2023 - ACS Publications
Accurate prediction of protein stability upon a point mutation has important applications in
drug discovery and personalized medicine. It remains a challenging issue in computational …
drug discovery and personalized medicine. It remains a challenging issue in computational …
Pharmacogenetic impact of SLC22A1 gene variant rs628031 (G/A) in newly diagnosed Indian type 2 diabetes patients undergoing metformin monotherapy
S Singh, AK Shukla, K Usman… - Pharmacogenetics and …, 2023 - journals.lww.com
Objectives Type 2 diabetes (T2D) imposes an enormous burden all over the world in both
developed and developing countries. Inter-individual differences are attributed to …
developed and developing countries. Inter-individual differences are attributed to …
Identification of Missense Variants Affecting Carcass Traits for Hanwoo Precision Breeding
DJ Lee, Y Kim, PTN Dinh, Y Chung, D Lee, Y Kim… - Genes, 2023 - mdpi.com
This study aimed to identify causal variants associated with important carcass traits such as
weight and meat quality in Hanwoo cattle. We analyzed missense mutations extracted from …
weight and meat quality in Hanwoo cattle. We analyzed missense mutations extracted from …
Unraveling the potential effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on the Protein structure and function of the human SLC30A8 gene on …
Background and aims The single nucleotide polymorphisms (SNPs) in SLC30A8 gene have
been recognized as contributing to type 2 diabetes (T2D) susceptibility and colorectal …
been recognized as contributing to type 2 diabetes (T2D) susceptibility and colorectal …
The rs1801280 SNP is associated with non-small cell lung carcinoma by exhibiting a highly deleterious effect on N-acetyltransferase 2
Purpose N-acetyltransferase 2 is an enzyme that is involved in the detoxification of
carcinogens in the human body, so any damage to this protein may lead to the emergence …
carcinogens in the human body, so any damage to this protein may lead to the emergence …
Delineating the impact of pathogenic mutations on the conformational dynamics of HDL's vital protein ApoA1: a combined computational and molecular dynamic …
AS Bhale, K Venkataraman - Journal of Biomolecular Structure and …, 2023 - Taylor & Francis
Abstract Apolipoprotein A1 (ApoA1), is the important component of high‐density lipoproteins
(HDL), that has key role in HDL biogenesis, cholesterol trafficking, and reverse cholesterol …
(HDL), that has key role in HDL biogenesis, cholesterol trafficking, and reverse cholesterol …