Relevant bibliographies by topics / NSSNPS AFFECTING STABILITY

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Academic literature on the topic 'NSSNPS AFFECTING STABILITY'

Author: Grafiati
Published: 11 September 2023
Last updated: 31 July 2025

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Journal articles on the topic "NSSNPS AFFECTING STABILITY"

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AbdelGader, Asia Awad, Afra M. Al Bakry, Hind A. Elnasri, Dawelbiet Abdelaal Yahia, and Mona Abdelrahman Mohamed Khaier. "Exploring Missense Variants in the Human PNPLA3 Protein: An In Silico Analysis." Sudan Journal of Medical Sciences 20, no. 2 (2025): 205–16. https://doi.org/10.18502/sjms.v20i2.16301.

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Background: Missense variants in humans are genetic variations that lead to amino acid substitutions in protein-coding regions, which can modify protein structure, function, and phenotype. The Patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene has received considerable attention because of its link to several metabolic disorders, such as non-alcoholic fatty liver disease (NAFLD) and alcoholic liver disease (ALD). Methods: The PNPLA3 gene was extracted from the National Center for Biotechnology Information (NCBI) databases, and non-synonymous single-nucleotide polymorphisms (n
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Ait El Cadi, Chaimaa, Al Mehdi Krami, Hicham Charoute, et al. "Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study." BioMed Research International 2020 (July 26, 2020): 1–10. http://dx.doi.org/10.1155/2020/7614634.

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RRM2B gene encodes ribonucleoside-diphosphate reductase subunit M2 B, the p53-inducible small subunit (p53R2) of ribonucleotide reductase (RNR), an enzyme catalyzing dNTP synthesis for mitochondrial DNA. Defects in this gene may cause severe mitochondrial disease affecting mainly the nervous system. This study is aimed at examining the effect of deleterious nonsynonymous SNP (nsSNP) on the structure of the RRM2B protein, using a variety of prediction tools followed by a molecular modeling analysis. After using 13 algorithms, 19 nsSNPs were predicted deleterious. Among these variants, 18 decrea
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Al-nakhle, Hakeemah H., Hind S. Yagoub, Sadin H. Anbarkhan, Ghadah A. Alamri, and Norah M. Alsubaie. "In Silico Evaluation of Coding and Non-Coding nsSNPs in the Thrombopoietin Receptor (MPL) Proto-Oncogene: Assessing Their Influence on Protein Stability, Structure, and Function." Current Issues in Molecular Biology 45, no. 12 (2023): 9390–412. http://dx.doi.org/10.3390/cimb45120589.

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The thrombopoietin receptor (MPL) gene is a critical regulator of hematopoiesis, and any alterations in its structure or function can result in a range of hematological disorders. Non-synonymous single nucleotide polymorphisms (nsSNPs) in MPL have the potential to disrupt normal protein function, prompting our investigation into the most deleterious MPL SNPs and the associated structural changes affecting protein–protein interactions. We employed a comprehensive suite of bioinformatics tools, including PredictSNP, InterPro, ConSurf, I-Mutant2.0, MUpro, Musitedeep, Project HOPE, STRING, Regulom
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Ali, Elshazali Widaa, Khalid Mohamed Adam, Mohamed E. Elangeeb, et al. "Exploring the Structural and Functional Consequences of Deleterious Missense Nonsynonymous SNPs in the EPOR Gene: A Computational Approach." Journal of Personalized Medicine 14, no. 11 (2024): 1111. http://dx.doi.org/10.3390/jpm14111111.

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Background: Mutations in the EPOR gene can disrupt its normal signaling pathways, leading to hematological disorders such as polycythemia vera and other myeloproliferative diseases. Methodology: In this study, a range of bioinformatics tools, including SIFT, PolyPhen-2, SNAP2, SNPs & Go, PhD-SNP, I-Mutant2.0, MuPro, MutPred, ConSurf, HOPE, and Interpro were used to assess the deleterious effects of missense nonsynonymous single nucleotide polymorphisms (nsSNPs) on protein structure and function. Furthermore, molecular dynamics simulations (MDS) were conducted to assess the structural devia
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Mahmud, Zabed, Syeda Umme Fahmida Malik, Jahed Ahmed, and Abul Kalam Azad. "Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor." BioMed Research International 2016 (2016): 1–11. http://dx.doi.org/10.1155/2016/2023803.

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Single-nucleotide polymorphisms (SNPs) associated with complex disorders can create, destroy, or modify protein coding sites. Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account for various diseases like Donohue syndrome or Leprechaunism, Rabson-Mendenhall syndrome, and type A insulin resistance. We analyzed the deleterious nonsynonymous SNPs (nsSNPs) in INSR gene based on different computational methods. Analysis of INSR was initiated with PROVEAN followed by PolyPhen and I-Mutant servers to investigate the effects of 57
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Almakhari, Maitha, Yan Chen, Amanda Shen-Yee Kong, et al. "In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS." PLOS ONE 19, no. 6 (2024): e0298092. http://dx.doi.org/10.1371/journal.pone.0298092.

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The TBX1 gene plays a critical role in the development of 22q11.2 deletion syndrome (22q11.2DS), a complex genetic disorder associated with various phenotypic manifestations. In this study, we performed in-silico analysis to identify potentially deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) within the TBX1 gene and evaluate their functional and structural impact on 22q11.2DS. A comprehensive analysis pipeline involving multiple computational tools was employed to predict the pathogenicity of nsSNPs. This study assessed protein stability and explored potential alterations
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Al-Nakhle, Hakeemah, Retaj Al-Shahrani, Jawanah Al-Ahmadi, Wesal Al-Madani, and Rufayda Al-Juhani. "Integrative In Silico Analysis to Identify Functional and Structural Impacts of nsSNPs on Programmed Cell Death Protein 1 (PD-1) Protein and UTRs: Potential Biomarkers for Cancer Susceptibility." Genes 16, no. 3 (2025): 307. https://doi.org/10.3390/genes16030307.

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Background: Programmed cell death protein 1 (PD-1), encoded by the PDCD1 gene, is critical in immune checkpoint regulation and cancer immune evasion. Variants in PDCD1 may alter its function, impacting cancer susceptibility and disease progression. Objectives: This study evaluates the structural, functional, and regulatory impacts of non-synonymous single-nucleotide polymorphisms (nsSNPs) in the PDCD1 gene, focusing on their pathogenic and oncogenic roles. Methods: Computational tools, including PredictSNP1.0, I-Mutant2.0, MUpro, HOPE, MutPred2, Cscape, Cscape-Somatic, GEPIA2, cBioPortal, and
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Akter, Shamima, Shafaat Hossain, Md Ackas Ali, Md Ismail Hosen, and Hossain Uddin Shekhar. "Comprehensive Characterization of the Coding and Non-Coding Single Nucleotide Polymorphisms in the Tumor Protein p63 (TP63) Gene Using In Silico Tools." Biomolecules 11, no. 11 (2021): 1733. http://dx.doi.org/10.3390/biom11111733.

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Single nucleotide polymorphisms (SNPs) help to understand the phenotypic variations in humans. Genome-wide association studies (GWAS) have identified SNPs located in the tumor protein 63 (TP63) locus to be associated with the genetic susceptibility of cancers. However, there is a lack of in-depth characterization of the structural and functional impacts of the SNPs located at the TP63 gene. The current study was designed for the comprehensive characterization of the coding and non-coding SNPs in the human TP63 gene for their functional and structural significance. The functional and structural
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9

Varghese, Rosemol, Soumya Basu, Ayyanraj Neeravi, et al. "Emergence of Meropenem Resistance Among Cefotaxime Non-susceptible Streptococcus pneumoniae: Evidence and Challenges." Frontiers in Microbiology 12 (February 3, 2022). http://dx.doi.org/10.3389/fmicb.2021.810414.

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The principal causative agent of acute bacterial meningitis (ABM) in children and the elderly is Streptococcus pneumoniae, with a widespread increase in penicillin resistance. Resistance is due to non-synonymous single-nucleotide polymorphisms (nsSNPs) that alter the penicillin-binding proteins (PBPs), the targets for all β-lactam drugs. Hence, resistance against one β-lactam antibiotic may positively select another. Since meropenem is an alternative to cefotaxime in meningeal infections, we aim to identify whether nsSNPs in the PBPs causing penicillin and cefotaxime resistance can decrease th
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Rahman, Md Hafizur, Md Numan Islam, Md Golam Rabby, Salina Shaheen Parul, Md Mahmudul Hasan, and Mrityunjoy Biswas. "In Silico Identification and Functional Impact of Deleterious Nonsynonymous Single‐Nucleotide Polymorphisms (nsSNPs) in Type 2 Diabetes–Associated Genes in South Asian Populations." Genetics Research 2024, no. 1 (2024). https://doi.org/10.1155/genr/6893109.

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This study explores the impact of nonsynonymous single‐nucleotide polymorphisms (nsSNPs) on type 2 diabetes (T2D). The nsSNPs are genetic variations that alter amino acids within proteins, affecting protein structure and function. This study investigated seven candidate genes associated with T2D pathogenesis from genome‐wide association studies (GWASs) catalog datasets. Subsequently, six mutation‐prediction tools were employed to identify the most harmful nsSNPs within these candidate genes. Further analysis involved evaluating protein evolutionary conservation using the ConSurf server and ass
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Dissertations / Theses on the topic "NSSNPS AFFECTING STABILITY"

1

GUPTA, HIMANI. "IN SILICO ANALYSIS OF NSSNPS AFFECTING STABILITY AND DYNAMICS OF P-GLYCOPROTEIN -A BREAST CANCER ASSOCIATED PROTEIN IDENTIFIED FROM GENE-ENVIRONMENT INTERACTION STUDIES." Thesis, 2014. http://dspace.dtu.ac.in:8080/jspui/handle/repository/15634.

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The correct identification of functional SNPs of any gene is an important aspect in the study of genomics but loss of consistent genotype and phenotype data hampers any experiment to characterize the functional influence of all SNPs in humans. Therefore, in silico methods assist in providing useful information for characterizing functional aspect of SNPs. In this study, we have made an intense effort to identify potentially functional SNPs influencing protein function in environment susceptible genes discovered in Breast Cancer pathway. For this we used set of bioinformatic tools that utilize
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