Condition: Tuberous Sclerosis
rs118203434 in
TSC1 gene and
Tuberous Sclerosis
PMID 10363127 1998 Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
PMID 28065512 2017 Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
PMID 15121797 2004 Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
PMID 10533066 1999 Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
PMID 26231267 2015 Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature.
PMID 18830229 2009 Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
PMID 24633152 2014 Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individuals.
PMID 20547222 2010 Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.
PMID 27425891 2016 Those include hamartin(R692X) and hamartin(R786X), stop mutants frequent in TSC patients and hamartin(H732Y) frequent in FCDIIb.
PMID 27494029 2016 Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
PMID 29221145 2017 Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
PMID 9242607 1997 Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
rs137854052 in
TSC2 gene and
Tuberous Sclerosis
PMID 11112665 2001 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
PMID 11520734 2001 Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.
PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
PMID 21332470 2012 Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
PMID 23389244 2013 Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.
PMID 17120248 2006 Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
PMID 11403047 2001 A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.
PMID 12111193 2002 TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
PMID 18302728 2008 We used these assays to compare the effects of 9 different TSC2 variants (S132C, F143L, A196T, C244R, Y598H, I820del, T993M, L1511H and R1772C) identified in individuals with symptoms of TSC from 4 different families.
PMID 25432535 2015 A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
PMID 9463313 1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
PMID 15798777 2005 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
PMID 12015165 2002 Here, we report one novel mutation of TSC1 (Q897X) and five novel mutations of TSC2 (c.336+1 G>A, L345R, E700K, R905G, K914K) identified in Japanese patients with TSC.
PMID 9829910 1998 Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
PMID 19259131 2009 Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
PMID 28065512 2017 Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
PMID 24271014 2014 Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
rs45507199 in
TSC2;PKD1 gene and
Tuberous Sclerosis
PMID 10732801 1998 Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
PMID 16114042 2005 Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
PMID 18854862 2009 A reliable cell-based assay for testing unclassified TSC2 gene variants.
PMID 16237225 2005 A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism.
PMID 20165957 2010 Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
PMID 21309039 2011 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
PMID 27406250 2016 Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
PMID 22867869 2013 Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
PMID 16981987 2006 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.