Associated Papers
Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.
Aypek H et al.
Renal Failure, 2025
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Junctional instability in neuroepithelium and network hyperexcitability in a focal cortical dysplasia human model.
Avansini SH et al.
Brain : a Journal of Neurology, 2022
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
Doucette LP et al.
European Journal of Human Genetics : Ejhg, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Buckingham L et al.
Hereditary Cancer in Clinical Practice, 2019
Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.
Dehghani M et al.
Frontiers in Molecular Biosciences, 2019
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.
Papadopoulou A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Avgeris S et al.
Scientific Reports, 2017
PI3K/AKT/mTOR pathway in pulmonary carcinoid tumours.
Zhang Z et al.
Oncology Letters, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
Ismail NF et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.
Zech R et al.
The Journal of Biological Chemistry, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
Wang J et al.
Genome Medicine, 2015
The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.
Yang HM et al.
Experimental and Molecular Pathology, 2014
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Kelleher RJ et al.
Plos One, 2012
Prenatal molecular diagnosis of tuberous sclerosis complex.
Milunsky A et al.
American Journal of Obstetrics and Gynecology, 2009
The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27.
Rosner M et al.
Mutation Research, 2006
MCP-1 overexpressed in tuberous sclerosis lesions acts as a paracrine factor for tumor development.
Li S et al.
The Journal of Experimental Medicine, 2005
Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells.
Majores M et al.
Journal of Neuropathology and Experimental Neurology, 2005
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
Nellist M et al.
European Journal of Human Genetics : Ejhg, 2005
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Ali M et al.
Acta Neurologica Scandinavica, 2005
Positive and negative regulation of TSC2 activity and its effects on downstream effectors of the mTOR pathway.
Jozwiak J et al.
Neuromolecular Medicine, 2005
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
Langkau N et al.
European Journal of Pediatrics, 2002
SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
Roberts PS et al.
Human Genetics, 2002
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.
Hodges AK et al.
Human Molecular Genetics, 2001
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Choy YS et al.
Annals of Human Genetics, 1999
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC et al.
American Journal of Human Genetics, 1999