Associated Papers
Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.
Chambwe N et al.
Scientific Reports, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.
Chambwe N et al.
Biorxiv : the Preprint Server for Biology, 2025
Association between insulin-associated gene polymorphisms and new-onset diabetes mellitus in statin-treated patients.
Park M et al.
European Journal of Clinical Investigation, 2025
A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.
Perez-Dionisio E et al.
Archives of Endocrinology and Metabolism, 2025
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report.
Zaitsu S et al.
International Journal of Molecular Sciences, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.
Dsouza NR et al.
Life (basel, Switzerland), 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.
Orzan F et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Circulating Tumor DNA Profiling of a Diffuse Large B Cell Lymphoma Patient with Secondary Acute Myeloid Leukemia.
Kerle IA et al.
Cancers, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.
Chu YD et al.
Biomedicines, 2021
Molecular Determination of mirRNA-126 rs4636297, Phosphoinositide-3-Kinase Regulatory Subunit 1-Gene Variability rs7713645, rs706713 (Tyr73Tyr), rs3730089 (Met326Ile) and Their Association with Susceptibility to T2D.
Mir R et al.
Journal of Personalized Medicine, 2021
PHLPP2 gene L1016S (rs61733127) and PIK3R1 gene Met326Ile (rs3730089) polymorphisms are associated with the risk of colon and breast cancers.
Daneshvar G et al.
Nucleosides, Nucleotides & Nucleic Acids, 2021
Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.
Lee SY et al.
Bmc Cancer, 2020
Optimization of a WGA-Free Molecular Tagging-Based NGS Protocol for CTCs Mutational Profiling.
De Luca G et al.
International Journal of Molecular Sciences, 2020
Phosphoinositide-3-kinase regulatory subunit 1 gene polymorphisms are associated with schizophrenia and bipolar disorder in the Han Chinese population.
Huang J et al.
Metabolic Brain Disease, 2020
Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden.
Qing T et al.
Nature Communications, 2020
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
An insight into the molecular genetics of a uveal melanoma patient cohort.
Kennedy S et al.
Journal of Cancer Research and Clinical Oncology, 2018
PIK3R1 gene polymorphisms are associated with type 2 diabetes and related features in the Turkish population.
Karadoğan AH et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2018
Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.
Rohan TE et al.
British Journal of Cancer, 2018
Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.
Chen L et al.
Nature Communications, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Impact of phosphoinositide-3-kinase and vitamin D3 nuclear receptor single-nucleotide polymorphisms on the outcome of malignant melanoma patients.
Morgese F et al.
Oncotarget, 2017
PIK3R1Met326Ile germline mutation correlates with cysteine-rich protein 61 expression and poor prognosis in glioblastoma.
Otani Y et al.
Scientific Reports, 2017
Influences on plasminogen activator inhibitor-2 polymorphism-associated recurrent cardiovascular disease risk in patients with high HDL cholesterol and inflammation.
Corsetti JP et al.
Atherosclerosis, 2016
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.
Rennert H et al.
Npj Genomic Medicine, 2016
Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.
Kopetz S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
High-throughput screening identified inherited genetic variations in the EGFR pathway contributing to skin toxicity of EGFR inhibitors.
Hasheminasab SM et al.
Pharmacogenomics, 2015
Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.
Griewank KG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
The interactive effect of SIRT1 promoter region polymorphism on type 2 diabetes susceptibility in the North Indian population.
Rai E et al.
Plos One, 2012
High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.
Cheung LW et al.
Cancer Discovery, 2011
Single nucleotide polymorphisms within functional regions of genes implicated in insulin action and association with the insulin resistant phenotype.
Malodobra M et al.
Molecular and Cellular Biochemistry, 2011
Impact of rs361072 in the phosphoinositide 3-kinase p110beta gene on whole-body glucose metabolism and subunit protein expression in skeletal muscle.
Ribel-Madsen R et al.
Diabetes, 2010
Pooled analysis of phosphatidylinositol 3-kinase pathway variants and risk of prostate cancer.
Koutros S et al.
Cancer Research, 2010
Molecular evolutionary analysis of cancer cell lines.
Zhang Y et al.
Molecular Cancer Therapeutics, 2010
No Association of Obesity and Type 2 Diabetes Mellitus Related Genetic Variants With Colon Cancer.
Thompson CL et al.
Gastroenterology Research, 2009
Association of common genetic variants in SMAD7 and risk of colon cancer.
Thompson CL et al.
Carcinogenesis, 2009
Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene Met326Ile polymorphism in women with polycystic ovary syndrome.
Kim JJ et al.
Human Reproduction (oxford, England), 2009
No association between a polymorphic variant of the IRS-1 gene and prostate cancer risk.
Fall K et al.
The Prostate, 2008
Disrupted RabGAP function of the p85 subunit of phosphatidylinositol 3-kinase results in cell transformation.
Chamberlain MD et al.
The Journal of Biological Chemistry, 2008
Plasminogen activator inhibitor-1 polymorphism (4G/5G) predicts recurrence in nonhyperlipidemic postinfarction patients.
Corsetti JP et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2008