A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene

scientific article published in June 2013

A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S12013-012-9472-9
P698PubMed publication ID23161105
P5875ResearchGate publication ID233538357

P2093author name stringC George Priya Doss
B Rajith
P2860cites workA catalog of neutral and deleterious polymorphism in yeastQ21563326
Phosphorylation of the PTEN tail regulates protein stability and functionQ22254305
The tumor suppressor PTEN is phosphorylated by the protein kinase CK2 at its C terminus. Implications for PTEN stability to proteasome-mediated degradationQ24290417
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphataseQ24322705
The Protein Data BankQ24515306
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dbSNP: the NCBI database of genetic variationQ24608672
A novel germline mutation of PTEN associated with brain tumours of multiple lineagesQ24651885
Proliferating cells express mRNAs with shortened 3' untranslated regions and fewer microRNA target sitesQ24653978
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsQ24673663
Comparison of simple potential functions for simulating liquid waterQ26778447
Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane associationQ27620298
A method and server for predicting damaging missense mutationsQ27860835
GROMACS 4:  Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular SimulationQ27860944
Direct identification of PTEN phosphorylation sitesQ28203697
Differences in the translation efficiency and mRNA stability mediated by 5'-UTR splice variants of human SP-A1 and SP-A2 genesQ28250832
Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancersQ28306997
Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancersQ28393163
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A three-state prediction of single point mutations on protein stability changes.Q30368637
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.Q30375382
Performance of protein stability predictors.Q30386719
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedQ30401706
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approachQ30407274
Computational refinement of functional single nucleotide polymorphisms associated with ATM geneQ31056468
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Germline PTEN mutations in Cowden syndrome-like families.Q33681468
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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeQ34504165
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.Q34548039
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Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.Q34742581
Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatographyQ34779834
Functional annotations improve the predictive score of human disease-related mutations in proteinsQ34985914
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.Q35250021
Identification of PTEN mutations in metastatic melanoma specimensQ35435625
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER associationQ35436505
Functional modules, mutational load and human genetic diseaseQ37086760
The role of PTEN signaling perturbations in cancer and in targeted therapyQ37270446
Forkhead transcription factors are critical effectors of cell death and cell cycle arrest downstream of PTEN.Q39457088
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.Q40066395
Multi-SNP analysis of MHC region: remarkable conservation of HLA-A1-B8-DR3 haplotypeQ40330077
Loss of glycosylation associated with the T183A mutation in human prion diseaseQ40488897
Negative feedback regulation of the tumor suppressor PTEN by phosphoinositide-induced serine phosphorylationQ40723275
Understanding the stereospecific interactions of 3-deoxyphosphatidylinositol derivatives with the PTEN phosphatase domainQ42712366
Detection of new PTEN/MMAC1 mutations in head and neck squamous cell carcinomas with loss of chromosome 10.Q43860454
Motif analysis of the tumor suppressor gene MMAC/PTEN identifies tyrosines critical for tumor suppression and lipid phosphatase activityQ43955971
Androgen receptor acetylation site mutations cause trafficking defects, misfolding, and aggregation similar to expanded glutamine tractsQ44690065
In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutationsQ45491423
Genetic polymorphism of CYP4A11 and CYP4A22 genes and in silico insights from comparative 3D modelling in a French populationQ45891966
A general user interface for prediction servers of proteins' post-translational modification sites.Q51918372
A germlinePTEN mutation with manifestations of prenatal onset and verrucous epidermal nevusQ57591056
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectsingle-nucleotide polymorphismQ501128
P304page(s)249-263
P577publication date2013-06-01
P1433published inCell Biochemistry and BiophysicsQ15755135
P1476titleA new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene
P478volume66

Reverse relations

cites work (P2860)
Q101356242Comprehensive in silico mutational-sensitivity analysis of PTEN establishes signature regions implicated in pathogenesis of Autism Spectrum Disorders
Q44579596Computational Analysis of High Risk Missense Variant in Human UTY Gene: A Candidate Gene of AZFa Sub-region
Q57657576Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach
Q42626290In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene
Q44076075In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach
Q50904628MicroRNA-181 inhibits proliferation and promotes apoptosis of chondrocytes in osteoarthritis by targeting PTEN.
Q27021940Molecular mechanisms of disease-causing missense mutations
Q39951577On human disease-causing amino acid variants: statistical study of sequence and structural patterns
Q33868804Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
Q99635642Predicting the most deleterious missense nsSNPs of the protein isoforms of the human HLA-G gene and in silico evaluation of their structural and functional consequences
Q92222650Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity
Q47156618Single nucleotide polymorphisms rs701848 and rs2735343 in PTEN increases cancer risks in an Asian population

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