Cargando…

Correlation between TSC1 gene polymorphism and epilepsy

The correlation between tuberous sclerosis complex 1 (TSC1) gene polymorphism and epilepsy was studied. In total, 38 patients with epilepsy treated in People's Hospital of Rizhao from May 2015 to June 2016 were selected as study subjects, as the observation group, 38 healthy people in the same...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jiang, Xiuli, Chen, Jiajia, Song, Quanjiang, Wang, Weiling, Zhang, Guangyan, Li, Ye
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2017
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740816/ https://www.ncbi.nlm.nih.gov/pubmed/29285181 http://dx.doi.org/10.3892/etm.2017.5345

Ejemplares similares

Epilepsy and TSC-Associated Neuropsychiatric Disorders
por: Capal, Jamie K.
Publicado: (2020)

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis
por: Rosset, Clévia, et al.
Publicado: (2017)

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits
por: Hoogeveen-Westerveld, Marianne, et al.
Publicado: (2012)

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients
por: Jiangyi, Wang, et al.
Publicado: (2020)

Evidence for population variation in TSC1 and TSC2 gene expression
por: Jentarra, Garilyn M, et al.
Publicado: (2011)

Analysis of the TSC1and TSC2genes in sporadic renal cell carcinomas
por: Parry, L, et al.
Publicado: (2001)

Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex
por: Li, Yi, et al.
Publicado: (2018)

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)
por: Liu, Jie, et al.
Publicado: (2019)

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2
por: Kwiatkowski, David J, et al.
Publicado: (2015)

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece
por: Avgeris, Socratis, et al.
Publicado: (2017)

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
por: Rosset, Clévia, et al.
Publicado: (2017)

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder
por: Bahl, Samira, et al.
Publicado: (2013)

Correction: Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)
por: Liu, Jie, et al.
Publicado: (2020)

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
por: Tyburczy, Magdalena E., et al.
Publicado: (2015)

Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study
por: Liu, Yi-Dan, et al.
Publicado: (2020)

Drosophila yakuba – Tsc1
por: Lose, Bailey, et al.
Publicado: (2021)

Drosophila yakuba – Tsc1
por: Lose, Bailey, et al.
Publicado: (2021)

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
por: Rosengren, Thomas, et al.
Publicado: (2020)

Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex
por: Santiago Lima, Arthur Jorge, et al.
Publicado: (2014)

Loss of TSC1/TSC2 sensitizes immune checkpoint blockade in non–small cell lung cancer
por: Huang, Qingyuan, et al.
Publicado: (2022)

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
por: Nellist, Mark, et al.
Publicado: (2015)

A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature
por: Mishal, Natanya M., et al.
Publicado: (2015)

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
por: Nellist, Mark, et al.
Publicado: (2008)

Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model
por: Koene, Linda M. C., et al.
Publicado: (2019)

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study
por: Wu, Joyce Y., et al.
Publicado: (2019)

Retraction: Drosophila yakuba – Tsc1
Publicado: (2021)

The Expression of TRIM6 Activates the mTORC1 Pathway by Regulating the Ubiquitination of TSC1-TSC2 to Promote Renal Fibrosis
por: Liu, Weiwei, et al.
Publicado: (2021)

TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms
por: Rosengren, Thomas, et al.
Publicado: (2018)

Uterine PEComas: Correlation Between Melanocytic Marker Expression and TSC Alterations/TFE3 Fusions
por: Bennett, Jennifer A., et al.
Publicado: (2022)

Association between Vitamin D Receptor Gene Polymorphisms with Childhood Temporal Lobe Epilepsy
por: Jiang, Pei, et al.
Publicado: (2015)

AKT3 promotes prostate cancer proliferation cells through regulation of Akt, B-Raf & TSC1/TSC2
por: Lin, Hui-Ping, et al.
Publicado: (2015)

Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer
por: Mrozek, Evelyn M., et al.
Publicado: (2021)

TSC2 modulates actin cytoskeleton and focal adhesion through TSC1-binding domain and the Rac1 GTPase
por: Goncharova, Elena, et al.
Publicado: (2004)

Akt Phosphorylates Both Tsc1 and Tsc2 in Drosophila, but Neither Phosphorylation Is Required for Normal Animal Growth
por: Schleich, Sibylle, et al.
Publicado: (2009)

Tumor Suppressors TSC1 and TSC2 Differentially Modulate Actin Cytoskeleton and Motility of Mouse Embryonic Fibroblasts
por: Goncharova, Elena A., et al.
Publicado: (2014)

TSC1 and TSC2 Genotype in Tuberous Sclerosis Complex: Are Other Manifestations of this Multisystem Disease Affected by Genotype?
por: Darling, Thomas N., et al.
Publicado: (2021)

Effects of Mutations in TSC Genes on Neurodevelopment and Synaptic Transmission
por: Bassetti, Davide, et al.
Publicado: (2021)

Hypoxia-inducible factor-1α polymorphisms and TSC1/2 mutations are complementary in head and neck cancers
por: Hebert, Carla, et al.
Publicado: (2006)

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants
por: Demir, Selma, et al.
Publicado: (2021)

Loss of TSC1 in secondary angiosarcoma of the breast
por: Rose, Lucy, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_kg0ce4ovq994t90030ghfgii8g