Associated Papers
Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.
Bakouh N et al.
Brain : a Journal of Neurology, 2025
CRISPR-Cas9-Mediated Correction of TSC2 Pathogenic Variants in iPSCs from Patients with Tuberous Sclerosis Complex Type 2.
Guo G et al.
The Crispr Journal, 2025
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.
Jin P et al.
Bmc Pregnancy and Childbirth, 2024
Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.
Dong J et al.
Journal of Ovarian Research, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.
Ribierre T et al.
Nature Neuroscience, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
Uterine collision tumor (PEComa and endometrioid carcinoma) in a tuberous sclerosis patient: a case report.
Koufopoulos N et al.
Frontiers in Oncology, 2023
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
West HD et al.
Human Mutation, 2023
TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : A Targeted Next-generation Sequencing and Gene Expression Profiling Study.
Xia QY et al.
The American Journal of Surgical Pathology, 2022
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.
Yang XY et al.
Molecular Genetics & Genomic Medicine, 2022
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.
Jha R et al.
Brain & Development, 2022
Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.
Nguyen HT et al.
Frontiers in Oncology, 2022
A case of solitary subependymal giant cell astrocytoma with histopathological anaplasia and TSC2 gene alteration.
Suzuki M et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2021
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Eosinophilic Renal Cell Tumors With a TSC and MTOR Gene Mutations Are Morphologically and Immunohistochemically Heterogenous: Clinicopathologic and Molecular Study.
Tjota M et al.
The American Journal of Surgical Pathology, 2020
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 2020
Renal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH).
Idogawa M et al.
Cancer Biology & Therapy, 2020
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Jiangyi W et al.
Aging, 2020
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S et al.
Acta Neuropathologica, 2019
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent and -independent signaling pathways.
Pal R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Liu J et al.
Plos One, 2019
Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study.
Li S et al.
Human Pathology, 2018
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.
Glushkova M et al.
Journal of Genetics, 2018
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
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex.
Yang G et al.
Clinical Genetics, 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
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
Overwater IE et al.
European Journal of Human Genetics : Ejhg, 2016
Control of TSC2-Rheb signaling axis by arginine regulates mTORC1 activity.
Carroll B et al.
Elife, 2016
[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].
Huang C
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2016
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Kwiatkowski DJ et al.
European Journal of Human Genetics : Ejhg, 2015