ArticlePloS one2012
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 47 citations in OpenAlex.
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- Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia.Advances in laboratory medicine · 2023Article
- Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report.Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2022Article
- A comprehensive in silico investigation into the nsSNPs of Drd2 gene predicts significant functional consequences in dopamine signaling and pharmacotherapy.Scientific reports · 2021Article
- Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.Scientific reports · 2021Article
- Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.Neurogenetics · 2021Article
- Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.Neurogenetics · 2020Article
- Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).Frontiers in genetics · 2018Article
- Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.Orphanet journal of rare diseases · 2017Article
- Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World.Scientific reports · 2016Article
- In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene.Meta gene · 2016Article
- An integrated in silico approach for functional and structural impact of non- synonymous SNPs in the MYH1 gene in Jeju Native Pigs.BMC genetics · 2016Article
- Identification of Deleterious Mutations in Myostatin Gene of Rohu Carp (Labeo rohita) Using Modeling and Molecular Dynamic Simulation Approaches.BioMed research international · 2016Article
- In silico analysis of consequences of non-synonymous SNPs of Slc11a2 gene in Indian bovines.Genomics data · 2015Article
- Analysis of consequences of non-synonymous SNP in feed conversion ratio associated TGF-β receptor type 3 gene in chicken.Meta gene · 2015Article
- In silico discrimination of nsSNPs in hTERT gene by means of local DNA sequence context and regularity.Journal of molecular modeling · 2013Article
- Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis.Applied & translational genomics · 2012Article
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2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUnderstanding and predicting molecular basis of disease is one of the major challenges in modern biology and medicine. SNPs associated with complex disorders can create, destroy, or modify protein coding sites. Single amino acid substitutions in the ATM gene are the most common forms of genetic variations that account for various forms of cancer. However, the extent to which SNPs interferes with the gene regulation and affects cancer susceptibility remains largely unknown. PRINCIPAL
findingsWe analyzed the deleterious nsSNPs associated with ATM gene based on different computational methods. An integrative scoring system and sequence conservation of amino acid residues was adapted for a priori nsSNP analysis of variants associated with cancer. We further extended our approach on SNPs that could potentially influence protein Post Translational Modifications in ATM gene. SIGNIFICANCE: In the lack of adequate prior reports on the possible deleterious effects of nsSNPs, we have systematically analyzed and characterized the functional variants in both coding and non coding region that can alter the expression and function of ATM gene. In silico characterization of nsSNPs affecting ATM gene function can aid in better understanding of genetic differences in disease susceptibility.
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