Log in

Relevant bibliographies by topics / NSSNPS AFFECTING STABILITY / Journal articles

To see the other types of publications on this topic, follow the link: NSSNPS AFFECTING STABILITY.

Journal articles on the topic 'NSSNPS AFFECTING STABILITY'

Author: Grafiati

Published: 11 September 2023

Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 19 journal articles for your research on the topic 'NSSNPS AFFECTING STABILITY.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

2

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

3

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

4

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

5

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

6

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

7

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

8

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

10

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.

Full text

Abstract:

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

APA, Harvard, Vancouver, ISO, and other styles

11

Al-Shuhaib, Mohammed Baqur S. "D76V, L161R, and C117S are the most pathogenic amino acid substitutions with several dangerous consequences on leptin structure, function, and stability." Egyptian Journal of Medical Human Genetics 20, no. 1 (2019). http://dx.doi.org/10.1186/s43042-019-0033-2.

Full text

Abstract:

Abstract Background Leptin is a versatile hormone with a variety of functions, including regulation of food intake by inhibiting hunger. Any deleterious mutation in this protein can lead to serious consequences for the body. This study was conducted to identify the most deleterious non-synonymous single-nucleotide polymorphisms (nsSNPs) of human LEP gene and their impact on its encoded protein. Methods To predict the possible impact of nsSNPs on leptin, a total of 90 nsSNPs were retrieved from dbSNP and investigated using many in silico tools which specially designed to analyze nsSNPs’ consequ

APA, Harvard, Vancouver, ISO, and other styles

12

Chatterjee, Prarthana, and Satarupa Banerjee. "A computational and structural approach to identify malignant non-synonymous FOXM1 single nucleotide polymorphisms in triple-negative breast cancer." Scientific Reports 15, no. 1 (2025). https://doi.org/10.1038/s41598-024-85100-w.

Full text

Abstract:

AbstractThe proliferation-specific oncogenic transcription factor, FOXM1 is overexpressed in primary and recurrent breast tumors across all breast cancer (BC) subtypes. Intriguingly, FOXM1 overexpression was found to be highest in Triple-negative breast cancer (TNBC), the most aggressive BC with the worst prognosis. However, FOXM1-mediated TNBC pathogenesis is not completely elucidated. Single nucleotide polymorphisms (SNPs) are the most common genetic variations causing functional and structural aberrations in proteins enhancing cancer susceptibility. This computational investigation attempte

APA, Harvard, Vancouver, ISO, and other styles

13

Roy, Pratima, Siddharth Sharma, and Manoj Baranwal. "Computational Insight in the Identification of Non‐Synonymous Single‐Nucleotide Polymorphism Affecting the Structure and Function of Interleukin‐4." PROTEOMICS – Clinical Applications, December 8, 2024. https://doi.org/10.1002/prca.202400070.

Full text

Abstract:

ABSTRACTBackgroundIL4 is a versatile cytokine essentially known for differentiation, proliferation and cell death in cells. Its dysregulation has been found to be associated with the development of inflammatory disorders.ObjectiveThe goal of the current investigation is to identify and select non‐synonymous single‐nucleotide polymorphisms (nsSNPs) in the IL‐4 gene by employing computational methods which may have a potential functional impact on the occurrence of disease.Method and ResultSix different nsSNPs were predicted to be deleterious based on the consensus of different algorithms: SIFT,

APA, Harvard, Vancouver, ISO, and other styles

14

Chamani, Reyhane, Parnia Sadat Pourhesseini MahmoudAbadi, Yasamin Janati, and Roxana Tajdini. "A comprehensive in silico analysis of pathogenic nsSNPs in the NT5C2 gene involved in relapsed ALL." Iranian Journal of Pediatric Hematology & Oncology, October 22, 2022. http://dx.doi.org/10.18502/ijpho.v12i4.10915.

Full text

Abstract:

Background: About 10-20% of children suffering from acute lymphoblastic leukemia (ALL), experience a relapse, which is a major cause of their death. Purine nucleotide analogs are frequently prescribed to maintain the treatment of ALL. Cytosolic 5´-nucleotidase (NT5C2) catalyzes the 5´ dephosphorylation of purine analogs. Gain-of-function mutations in the NT5C2 gene result in resistance to the treatment with purine analogs and subsequently in the relapse of the disease. Materials and Methods: In this descriptive study, bioinformatics tools were used to assess the effect of single nucleoti

APA, Harvard, Vancouver, ISO, and other styles

15

Ruiz-De-La-Cruz, Gilberto, Ana María Sifuentes-Rincón, Francisco Alejandro Paredes-Sánchez, et al. "Analysis of nonsynonymous SNPs in candidate genes that influence bovine temperament and evaluation of their effect in Brahman cattle." Molecular Biology Reports 51, no. 1 (2024). http://dx.doi.org/10.1007/s11033-024-09264-4.

Full text

Abstract:

Abstract Background Temperament is an important production trait in cattle and multiple strategies had been developed to generate molecular markers to assist animal selection. As nonsynonymous single nucleotide polymorphisms are markers with the potential to affect gene functions, they could be useful to predict phenotypic effects. Genetic selection of less stress-responsive, temperamental animals is desirable from an economic and welfare point of view. Methods and results Two nonsynonymous single nucleotide polymorphisms identified in HTR1B and SLC18A2 candidate genes for temperament were ana

APA, Harvard, Vancouver, ISO, and other styles

16

Das, Shuvo Chandra, Md Anisur Rahman, and Shipan Das Gupta. "In-silico analysis unravels the structural and functional consequences of non-synonymous SNPs in the human IL-10 gene." Egyptian Journal of Medical Human Genetics 23, no. 1 (2022). http://dx.doi.org/10.1186/s43042-022-00223-x.

Full text

Abstract:

Abstract Background Interleukin-10 (IL-10) is an anti-inflammatory cytokine that affects different immune cells. It is also associated with the stimulation of the T and B cells for the production of antibodies. Several genetic polymorphisms in the IL-10 gene have been reported to cause or aggravate certain diseases like inflammatory bowel disease, rheumatoid arthritis, systemic sclerosis, asthma, etc. However, the disease susceptibility and abnormal function of the mutated IL-10 variants remain obscure. Results In this study, we used seven bioinformatics tools (SIFT, PROVEAN, PMut, PANTHER, Po

APA, Harvard, Vancouver, ISO, and other styles

17

Hossain, Tanvir, Md Nur Islam, Md Anwar Hossain, Md Mofizur Rahman, Mohammed Mafizul Islam, and Shipan Das Gupta. "Unraveling the structural and functional consequences of non-synonymous single-nucleotide polymorphisms (nsSNPs) in human SOCS2: an in silico approach." Egyptian Journal of Medical Human Genetics 26, no. 1 (2025). https://doi.org/10.1186/s43042-025-00669-9.

Full text

Abstract:

Abstract Background The protein from suppressors of cytokine signaling (SOCS) family regulates immune response by modulating the signaling pathways of cytokines. SOCS2, a member of this family, plays an important role in regulating growth hormone receptors, the JAK-STAT pathway, energy homeostasis, and other biological processes. Multiple non-synonymous SNPs (nsSNPs) have been found in the SOCS2 gene, which could affect protein function. However, there is limited understanding of disease susceptibility and abnormal functioning associated with these mutated SOCS2 gene. Results In this study, we

APA, Harvard, Vancouver, ISO, and other styles

18

"In Silico Analysis of Nonsynonumus Single Nucleotide Polymorphisms(nsSNPs) in Human GAAGene." Sudanese Online Research Journal, May 1, 2021, 78–92. http://dx.doi.org/10.51527/v2i2.09.

Full text

Abstract:

GATA2 or GATA-binding factor 2 is a transcription factor, which regulates the expression of genes that are critical for the embryonic development, self-renewal, maintenance, and functionality of blood-forming lymphatic system-forming, and other tissue-forming stem cells. GATA2 protein is encoded by the GATA2 gene which often suffers germ line and somatic mutations which lead to a wide range of familial and sporadic diseases. Association of data including protein and genetic interactions, pathways, co-expression, co-localization and protein domain similarity were predicted using Gene MANIA soft

APA, Harvard, Vancouver, ISO, and other styles

19

"Insilco Analysis of Non-Synonymous Single Nucleotide Polymorphisms of GATA 2 binding factor Human Gene." Sudanese Online Research Journal, May 1, 2021, 103–10. http://dx.doi.org/10.51527/v2i2.12.

Full text

Abstract:

GATA2 or GATA-binding factor 2 is a transcription factor, which regulates the expression of genes that are critical for the embryonic development, self-renewal, maintenance, and functionality of blood-forming lymphatic system-forming, and other tissue-forming stem cells. GATA2 protein is encoded by the GATA2 gene which often suffers germ line and somatic mutations which lead to a wide range of familial and sporadic diseases. Association of data including protein and genetic interactions, pathways, co-expression, co-localization and protein domain similarity were predicted using Gene MANIA soft

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!