[HTML][HTML] NELL-1 in genome-wide association studies across human diseases

X Cheng, J Shi, Z Jia, P Ha, C Soo, K Ting… - The American Journal of …, 2022 - Elsevier
Neural epidermal growth factor–like (EGFL)-like protein (NELL)-1 is a potent and key
osteogenic factor in the development and regeneration of skeletal tissues. Intriguingly …

The 14-bp insertion/deletion as a promising gene polymorphism to understand cancer risk: Evidence from a systematic review and comprehensive meta-analysis

K Tizaoui, MA Ayadi, I Zemni, AH Harrath, R Rizzo… - Heliyon, 2024 - cell.com
Background HLA-G is associated with cancer cell escape. The 3'UTR polymorphism is
involved in the regulation of membrane-bound HLA-G and soluble HLA-G proteins. The aim …

Influence of PRKCE non-synonymous variants on protein dynamics and functionality

K Khan, H Shah, A Rehman, Y Badshah… - Human Molecular …, 2022 - academic.oup.com
Novel protein kinase C (nPKC) family member, protein kinase C epsilon (PKCε) is an AGC
kinase superfamily member. It is associated with neurological and metabolic diseases as …

Computational screening and analysis of deleterious nsSNPs in human p14ARF (CDKN2A gene) protein using molecular dynamic simulation approach

SU Ahmad, Y Ali, Z Jan, S Rasheed… - Journal of …, 2023 - Taylor & Francis
Cyclin-dependent kinase inhibitor 2 A (CDKN2A) gene belongs to the cyclin-dependent
kinase family that code for two transcripts (p 16INK4A and p 14ARF), both work as tumor …

Computational Analysis of Deleterious SNPs in NRAS to Assess Their Potential Correlation With Carcinogenesis

MY Behairy, MA Soltan, MS Adam, AM Refaat… - Frontiers in …, 2022 - frontiersin.org
The NRAS gene is a well-known oncogene that acts as a major player in carcinogenesis.
Mutations in the NRAS gene have been linked to multiple types of human tumors. Therefore …

GLP1R (glucagon-like-peptide-1 incretin receptor), diabetes and obesity phenotypes: An in silico approach revealed new pathogenic variants

VM Knihs, FB Filippin-Monteiro - Diabetes & Metabolic Syndrome: Clinical …, 2024 - Elsevier
Objective Glucagon-like peptide-1 receptor belongs to the B family of G protein-coupled
receptors, serving as a binding protein in membranes and is widely expressed in human …

Unraveling Extremely Damaging IRAK4 Variants and Their Potential Implications for IRAK4 Inhibitor Efficacy

MY Behairy, RA Eid, HM Otifi, HM Mohammed… - Journal of Personalized …, 2023 - mdpi.com
Interleukin-1-receptor-associated kinase 4 (IRAK4) possesses a crucial function in the toll-
like receptor (TLR) signaling pathway, and the dysfunction of this molecule could lead to …

Structural analysis of human ATE1 isoforms and their interactions with Arg-tRNAArg

R Naga, S Poddar, A Bhattacharjee, P Kar… - Journal of …, 2024 - Taylor & Francis
Posttranslational protein arginylation has been shown as a key regulator of cellular
processes in eukaryotes by affecting protein stability, function, and interaction with …

Discovering deleterious single nucleotide polymorphisms of human AKT1 oncogene: an in silico study

R Zhang, N Akhtar, AK Wani, K Raza, V Kaushik - Life, 2023 - mdpi.com
Background: AKT1 is a serine/threonine kinase necessary for the mediation of apoptosis,
angiogenesis, metabolism, and cell proliferation in both normal and cancerous cells. The …

HBD-2 variants and SARS-CoV-2: New insights into inter-individual susceptibility

MY Behairy, MA Soltan, MA Eldeen… - Frontiers in …, 2022 - frontiersin.org
Background A deep understanding of the causes of liability to SARS-CoV-2 is essential to
develop new diagnostic tests and therapeutics against this serious virus in order to …