Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
CDKN2A homozygous deletions and TSC2 somatic mutations in metastatic pancreatic neuroendocrine tumors.
Jesus TT et al.
Npj Precision Oncology, 2025
CRISPR-Cas9 Single Nucleotide Editing of Tuberous Sclerosis Complex 2 Gene in Mesenchymal Stem Cells.
Salemdawod A et al.
The Crispr Journal, 2025
Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development.
Chen J et al.
Ultraschall in Der Medizin (stuttgart, Germany : 1980), 2025
Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.
Eser M et al.
Molecular Genetics and Genomics : Mgg, 2024
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?
Apam-Garduño D et al.
Journal of Cutaneous Pathology, 2023
De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report.
Triono A et al.
Annals of Medicine and Surgery (2012), 2023
Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.
Triono A et al.
Plos One, 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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.
Luo C et al.
Orphanet Journal of Rare Diseases, 2022
Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.
Wang W et al.
Genetics and Molecular Biology, 2022
Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Tian X et al.
Annals of the American Thoracic Society, 2021
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 2020
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME et al.
Scientific Reports, 2020
Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation.
Wiemer-Kruel A et al.
Neuropediatrics, 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
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Treichel AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Liu J et al.
Plos One, 2019
Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor.
Siroky BJ et al.
The Journal of Pediatrics, 2017
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
Cai Y et al.
Urology, 2017
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
Overwater IE et al.
European Journal of Human Genetics : Ejhg, 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
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M et al.
Human Mutation, 2013
Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review.
Dworakowska D et al.
Endocrine-related Cancer, 2009
[Association between sequence variation of Env, Gag genes from the same source and HIV-1 disease progression and host genetic polymorphism].
Bai LS et al.
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 2007
The tuberous sclerosis complex.
Crino PB et al.
The New England Journal of Medicine, 2006
The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27.
Rosner M et al.
Mutation Research, 2006
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
Chan JA et al.
Journal of Neuropathology and Experimental Neurology, 2004
The GTPase-activating protein Rap1GAP uses a catalytic asparagine.
Daumke O et al.
Nature, 2004
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Roberts PS et al.
Journal of Medical Genetics, 2004
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
Feng JH et al.
Human Mutation, 2004
Tsc1+ and tsc2+ regulate arginine uptake and metabolism in Schizosaccharomyces pombe.
van Slegtenhorst M et al.
The Journal of Biological Chemistry, 2004
Expression of wild type and mutant TSC2, but not TSC1, causes an increase in the G1 fraction of the cell cycle in HEK293 cells.
Khare L et al.
Journal of Medical Genetics, 2002
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