IGDB.NSCLC Gene View
 
Gene Information        (help)
Gene TSC1 Ensembl ENSG00000165699 Chromosome 9 Start 134756557 End 134809841
Description Hamartin (Tuberous sclerosis 1 protein) [Source:UniProtKB/Swiss-Prot;Acc:Q92574]
GENE RESOURCES :NUCLEOTIDE SEQUENCES :PROTEIN RESOURCES :CLINICAL RESOURCES :REFERENCES :
     HGNC : 12362
     Entrez Gene : 7248
     UCSC : uc004cca.2
     GeneCards : 12362
     RefSeq : NM_000368
     CCDS : CCDS6956.1
     Uniprot : Q92574
     Interpro : Q92574
     OMIM : 605284
     GeneTests : TSC1
     CGAP : TSC1
     PMID : 9242607

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Somatic Mutaions        (help)
Lung cancer Adenocarcinoma Squamous Cell Carcinoma
Unique Mutated Samples % Mutated Total Unique
Samples
Unique Mutated
Samples
% Mutated Total Unique
Samples
Unique Mutated
Samples
% Mutated Total Unique
Samples
3 0.88 340 3 1.44 208 0 0.00 7
Sample datas
Sample Name Histology Subtype DNA Mutation Protein Mutation Mutation Description Zygosity Genomic Co-ordinates NCBI36 Pubmed
16951 AD c.1768C>T p.P590S Substitution - Missense Heterozygous 9:134771018-13477101818948947
17726 AD c.611G>T p.R204L Substitution - Missense Heterozygous 9:134787079-13478707918948947
NCI-H1793 AD c.508+1G>T p.? Unknown Homozygous 9:134788555-134788555 

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Microarray Gene Expression Fold Change Result        (help)
( red: up-regulation / green : down-regulation when p value < 0.01)
( gray background : these probesets might have mapping problems. ref 1, ref 2)
Chip Type Probeset Adenocarcinoma Squamous Cell Carcinoma
Fold Change p value q value Fold Change p value q value
 HG_U95  32599_at  -0.39  6.41e-3  1.59e-2  -0.26  9.79e-2  1.61e-1
 HG_U133A  209390_at  -0.47  1.17e-20  9.68e-20  0.15  2.96e-2  3.17e-2
 HG_U133_Plus2  209390_at  -0.29  2.52e-7  1.26e-6  -0.33  8.27e-7  2.45e-6
 Stanford  6823  0.33  1.79e-1  3.63e-1  -0.02  9.51e-1  9.79e-1
 Agilent_HS_21.6K  12692  0.01  7.30e-1  8.41e-1  0.01  6.45e-1  7.64e-1

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Adjuvant Cisplatin/vinorelbine Treatment vs Observation Result        (help) (Pubmed)
( red: up-regulation / green : down-regulation when p value < 0.01)
( gray background color : the mapping problems of probeset. ref_1, ref_2)
Chip Type Probeset Adenocarcinoma Squamous Cell Carcinoma
Fold Change p value q value Fold Change p value q value
 HG_U133A  209390_at  -0.18  4.21e-1  9.09e-1  0.06  5.68e-1  1.00e+0

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Microarray Sample Data        (help)
( The log2 value of tumor samples )
(Average : Average log2 value from Normal Samples.)
        HG_U95 - 32599_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 209390_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 209390_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        Stanford - 6823    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        Agilent_HS_21.6K - 12692    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

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Cancer Gene Index        (help)

If 0 entry was found, please remove the search key "lung cancer".
Keyword DiseaseData Statement PubMed Organism
tsc1 pulmonary lymphangioleiomyomatosis Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. 11829138 Human
tsc1 hamartoma Tuberous sclerosis (TSC) is a autosomal dominant genetic disorder caused by mutations in either TSC1 or TSC2, and characterized by benign hamartoma growth. 11875047 Human
tsc1 tumors Tsc1 heterozygotes develop kidney cystadenomas and liver hemangiomas at high frequency, but the incidence of kidney tumors is somewhat lower than in Tsc2 heterozygote mice. 11875047 Mouse
tsc1 tumor We have investigated three candidate tumor suppressor genes on chromosome 9 (CDKN2A, DBCCR1, and TSC1), at the DNA level and by expression analysis in a panel of bladder tumor cell lines, many of which have probable LOH along the length of the chromosome, 11921286 Human
tsc1 tumours It was noted that 12% of NR tumours, compared with 54% of REC primary tumours (p=0.01), had LOH at all informative markers spanning the TSC1 region. 11920732 Human
tsc1 benign tumors Mutations in either TSC1 or TSC2 cause tuberous sclerosis complex, an autosomal dominant disorder characterized by seizures, mental retardation, and benign tumors of the skin, brain, heart, and kidneys. 14718525 Human
tsc1 tumors Disruption of the TSC1 or TSC2 gene leads to the development of tumors in multiple organs, most commonly affecting the kidney, brain, lung, and heart. 12384518 Human
tsc1 hamartoma syndrome Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2. 11112665 Human
tsc1 kidney cysts Although there was overlap in the spectrum of many clinical features of patients with TSC1 versus TSC2 mutations, some features (grade 2-4 kidney cysts or angiomyolipomas, forehead plaques, retinal hamartomas, and liver angiomyolipomas) were very rare or 11112665 Human
hamartin meningioma Primary cell cultures of oligodendroglioma, meningioma, and glioblastoma multiforme origin were also found to express hamartin. 11170177 Human
hamartin glioblastoma multiforme Primary cell cultures of oligodendroglioma, meningioma, and glioblastoma multiforme origin were also found to express hamartin. 11170177 Human
hamartin oligodendroglioma Primary cell cultures of oligodendroglioma, meningioma, and glioblastoma multiforme origin were also found to express hamartin. 11170177 Human
hamartin tumor These findings demonstrate that hamartin is widely expressed in human and rat cell lines and cultures, and demonstrate that hamartin expression is not lost during the establishment of tumor cell lines or primary cultures. 11170177 Human
tsc1 bladder cancer The chromosome 9q genes TGFBR1, TSC1, and ZNF189 are rarely mutated in bladder cancer. 11329144 Human
tsc1 tumors The inherited human disease tuberous sclerosis, characterized by hamartomatous tumors, results from mutations in either TSC1 or TSC2. 11348591 Human
tsc1 tumor A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. 11438694 Mouse
tsc1 tumors Heterozygous Tsc1 mutant (Tsc1(+/-)) mice developed renal and extra-renal tumors such as hepatic hemangiomas. 11438694 Mouse
tsc1 tumors In these tumors, loss of wild-type Tsc1 allele was observed. 11438694 Mouse
tsc1 tumor This study thus provides evidence that, in both TSC1 and TSC2, somatic mutations resulting in the loss of wild-type alleles may not be necessary in some tumor types-and that other mechanisms may contribute to tumorigenesis in this setting. 11468687 Human
tsc1 lung adenocarcinomas In this study, we analyzed LOH in four microsatellite loci on 9q, including the TSC1 gene-associated region, and four loci on 16p, including the TSC2 gene-associated region, in both 18 AAHs and 17 concomitant lung adenocarcinomas from 11 patients. 11696455 Human
tsc1 lung adenocarcinoma The TSC1 gene or another neighboring tumor suppressor gene on 9q might be involved in an early stage of the pathogenesis of lung adenocarcinoma. 11696455 Human
tsc1 renal-cell carcinomas Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. 11710839 Human
tsc1 hamartoma syndrome Germline mutations of the TSC1 and TSC2 genes cause tuberous sclerosis (TSC), a multi-system hamartoma syndrome that is also associated with RCC. 11710839 Human
tsc1 tumour We believe that somatic mutations in TSC1 and TSC2 resulting in the loss of wild-type alleles may not be necessary in some tumour types, and other mechanisms may contribute to tumorigenesis in this setting. 12773159 Human
tsc1 bladder cancer To date the only evidence for this comes from the finding of mutations of TSC1 in bladder cancer. 12773163 Human
tsc1 bladder cancer The mutation spectrum of TSC1 in bladder cancer and functional evidence from TSC1 -gene-replacement studies in bladder tumour cells will be presented. 12773163 Human
tsc1 hamartoma Loss of the tumour-suppressor gene TSC1 is responsible for hamartoma development in tuberous sclerosis complex (TSC), which renders several organs susceptible to benign tumours. 10806479 Human
tsc1 tumor Disease progression is accompanied by homozygous mutation at 1 of 2 loci (designated TSC1 or TSC2), leading to the suggestion that these genes function as tumor suppressors. 10827137 Human
tsc1 tumor Tuberous sclerosis is an autosomal dominant hereditary disease caused by mutations in either the TSC1 or the TSC2 tumor suppressor gene. 10915759 Human
tsc1 renal angiomyolipoma Immunohistochemical stains of both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2). 10934115 Human
hamartin renal angiomyolipoma Immunohistochemical stains of both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2). 10934115 Human
tsc1 renal carcinomas Distribution of Tsc1 protein detected by immunohistochemistry in various normal rat tissues and the renal carcinomas of Eker rat: detection of limited colocalization with Tsc1 and Tsc2 gene products in vivo. 11005204 Rat
tsc1 tumours However, SSCP screening of all coding exons of the TSC1 or TSC2 genes in the tumours displaying LOH, and of both genes in 21 gangliogliomas, revealed no intragenic mutations. 11129334 Human
tsc tumours The lack of demonstrable inactivation of both alleles of either TSC gene in any of the tumours investigated suggests that they do not play a frequent role in the aetiology of sporadic glial or glioneuronal tumours. 11129334 Human
tsc1 tumor Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. 11173847 Human
hamartin tumor Further characterization of the roles of hamartin and tuberin will provide potential therapeutic avenues to treat seizures, mental retardation, and tumor growth in TSC. 10534239 Human
tsc1 renal carcinomas Isolation and characterization of a rat homologue of the human tuberous sclerosis 1 gene (Tsc1) and analysis of its mutations in rat renal carcinomas. 10029074 Human
tuberous sclerosis 1 renal carcinomas Isolation and characterization of a rat homologue of the human tuberous sclerosis 1 gene (Tsc1) and analysis of its mutations in rat renal carcinomas. 10029074 Human
tsc1 tumors No loss of heterozygosity was detected in the tumors at the TSC1, TSC2, or VHL gene regions, and no alterations in the VHL gene were detected using single-strand conformation polymorphism analysis. 10191351 Human
tsc1 transitional cell carcinoma Mutation spectrum of the 9q34 tuberous sclerosis gene TSC1 in transitional cell carcinoma of the bladder. 14633685 Human
tsc1 tumors Thus 3 cases with mutation retained heterozygosity for TSC1 despite our selection of tumors mostly with 9q LOH (>80%) for the study. 14633685 Human
tsc1 bladder cancer This may indicate that haploinsufficiency for TSC1 can contribute to the development of bladder cancer and, if so, that the LOH of TSC1 observed in >50% of TCCs is biologically significant. 14633685 Human
tsc1 tumour Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 or TSC2 gene. 10227394 Human
tsc renal carcinomas Recent identification of VHL, c-met and TSC as candidate genes mutated in various types of renal carcinomas has greatly enhanced our understanding of the pathogenesis of renal carcinomas and has provided novel therapeutic options for patients with renal c 11753085 Human
tsc renal cancer Recent identification of VHL, c-met and TSC as candidate genes mutated in various types of renal carcinomas has greatly enhanced our understanding of the pathogenesis of renal carcinomas and has provided novel therapeutic options for patients with renal c 11753085 Human
hamartin tumors These data suggest that tuberin and hamartin immunoreactivity can distinguish tumors with underlying TSC1 mutations from those with TSC2 mutations. 10349994 Human
tsc1 tumors These data suggest that tuberin and hamartin immunoreactivity can distinguish tumors with underlying TSC1 mutations from those with TSC2 mutations. 10349994 Human
tsc1 bladder cancer Mutation of the 9q34 gene TSC1 in sporadic bladder cancer. 10353610 Human
tsc1 renal tumors Because the 9q breakpoint was located in the same region as the tuberous sclerosis type I locus (TSC1), which is associated with renal tumors, we performed FISH with two TSC1 flanking cosmids that were mapped proximal to the 9q breakpoint, thus excluding 9523203 Human
tsc1 tumor Tuberous sclerosis is an inherited syndrome associated with mutations in two tumor suppressor genes: TSC1 and TSC2. 9809973 Human
tsc1 tumor If altered vesicular trafficking leads to tumorigenesis in tuberous sclerosis, TSC1 and TSC2 may have a novel mechanism of tumor suppression. 9809973 Human
tsc1 tumors The tumors were analyzed for loss of heterozygosity (LOH) in the chromosomal regions of the TSC1, TSC2, and VHL genes. 9827727 Human
tsc1 tumors Along with TSC1, these two genes behave as expected for tumor suppressor genes with evidence for loss of heterozygosity in tumors and suppression of growth when expressed in proliferating cells. 14566857 Human
tsc1 tumor Along with TSC1, these two genes behave as expected for tumor suppressor genes with evidence for loss of heterozygosity in tumors and suppression of growth when expressed in proliferating cells. 14566857 Human
hamartin metastasis Hamartin and tuberin may play functional roles in the suppression of cell migration and/or metastasis, possibly through their regulation of the small GTPase Rho. 14566858 Human
hamartin tumor In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor. 9242607 Human
hamartin renal carcinoma In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor. 9242607 Human
tsc1 tumor Tumor DNA analysis revealed mutations in the TSC1 gene in case 1 and the TSC2 gene in case 2; no mutations have been identified yet in cases 3 and 4. 9655146 Human
tsc1 tumors This could indicate that TSC2 tumors are more likely than TSC1 tumors to require surgical resection or that TSC2 is more common than TSC1 in our patient population. 8755927 Human
tsc1 tumor syndrome Tuberous sclerosis (TSC) is a familial tumor syndrome due to mutations in TSC1 or TSC2, in which progression to malignancy is rare. 14561707 Human
tsc1 tumor To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VHL, an 8824721 Human
tsc1 hamartoma syndrome Tuberous sclerosis (TSC) is an autosomal dominant hamartoma syndrome whose causative genes (TSC1 and TSC2) were identified 5 and 9 years ago respectively. 12556239 Human
tsc1 tumours This region is frequently deleted in other sporadic tumours and encompasses one of the loci for tuberous sclerosis (TSC1). 7478593 Human
tsc1 malignant neoplasms Inactivation of both alleles at TSC1 or TSC2 loci is associated with the development of hamartomas in different organs, and only rarely with malignant neoplasms. 14508401 Human
tsc1 renal-cell carcinoma Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family. 8592324 Human
hamartin tumors The absence of both tuberin and hamartin in some of the tumors suggests that the stability of tuberin and hamartin, which are believed to form an active complex in vivo, is negatively affected by the absence of either of the partners. 12641776 Human
tsc1 astrocytoma 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. 7849708 Human
tsc1 giant cell astrocytoma Here we report the first evidence of loss of heterozygosity at the TSC1 critical region in a giant cell astrocytoma of a familial tuberous sclerosis case. 7849708 Human
tsc1 hamartoma We now report a TSC hamartoma showing allele loss for markers on chromosome 9q34 in the region of the TSC1 gene. 7849709 Human
tsc1 renal-cell carcinoma TSC1 and TSC2 mutations are related to various phenotypic manifestations and risks of malignancy, such as an increased incidence of the TSC2 mutation in patients with renal cell carcinoma. 12686801 Human
tsc1 tumor Human bladder tumors with 2-hit mutations of tumor suppressor gene TSC1 and decreased expression of p27. 12853839 Human
tsc1 tumor Since another tumor suppressor gene, TSC2 (chromosome 16p13.3), is reported to interact with TSC1 in the pathway that modulates tumor suppression, we assessed loss of heterozygosity (LOH) at 16p13.3. 12853839 Human
tsc1 tumor Furthermore, on single strand conformational polymorphism analysis we identified tumor specific mutations of TSC1 in 4 cases, of which all had LOH at 9q34, demonstrating the 2-hit mutations of TSC1. 12853839 Human
hamartin astrocytomas Unlike tuberin, loss of hamartin expression was not observed in sporadic astrocytomas. 10663963 Human
hamartin astrocytomas In the cerebrum with TSC, both hamartin and tuberin were simultaneously reduced in the cortical tubers and subependymal giant cell astrocytomas, and from the normal-appearing cortex. 10805093 Human
hamartin hamartomas Our data indicate that disruption of adhesion to the cell matrix through loss of hamartin may initiate the development of TSC hamartomas and that a Rho-mediated signalling pathway regulating cell adhesion may constitute a rate-limiting step in tumour form 10806479 Human
hamartin hamartomas The detection of loss of heterozygosity of TSC1 or TSC2 in hamartomas, the growths characteristically occurring in TSC patients, suggested a tumor suppressor function for their gene products hamartin and tuberin. 11397651 Human
hamartin hamartomas By comparing the incidence of the hamartomas in early childhood and gene expression in tissues, it appears that tissues with co-expression of hamartin and tuberin are prone to a higher incidence of hamartomas than those expressing only one protein, or two 12202993 Human
hamartin fibroepithelial polyps Hamartin and tuberin immunohistochemical expression in cutaneous fibroepithelial polyps. 15059224 Human
hamartin gastrointestinal polyps BACKGROUND: Hamartin and tuberin are inactivating tumor suppressor proteins implicated in the development of gastrointestinal polyps and sporadic and tuberous sclerosis-associated cutaneous angiofibromas. 15059224 Human
hamartin polyps The MLI of hamartin was 44.3 +/- 4.4 for keratinocyte nuclei in normal skin and 51.2 +/- 3.7 within the polyps. 15059224 Human
hamartin polyps The MLI for hamartin within the fibrocytes of the normal skin was 78.9 +/- 7.1 compared to 21.6 +/- 4.2 within the polyps, p = 0.01. 15059224 Human
hamartin astrocytomas Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. 15072102 Human
hamartin astrocytomas Loss of hamartin expression was seen in all subependymal giant cell astrocytomas, including five from patients with germline TSC2 mutations and two from patients with germline TSC1 mutations. 15072102 Human
hamartin astrocytomas Overall, these data indicate a loss of both tuberin and hamartin expression in the subependymal giant cell astrocytomas of patients with both TSC1 and TSC2 mutations and are consistent with a two-hit disease pathogenesis model for the development of subep 15072102 Human
hamartin human breast cancer Tuberin and hamartin are aberrantly expressed and linked to clinical outcome in human breast cancer: The role of promoter methylation of TSC genes. 15951164 Human
hamartin tumours There was no statistical difference between node negative and node positive tumours with both hamartin and tuberin. 15951164 Human
hamartin metastasis Likewise, hamartin levels were significantly lower in patients with metastasis, recurrence and mortality, when compared with those remained disease free (P = 0.001, 0.041 and 0.003, respectively). 15951164 Human
hamartin tumors Patients with tuberous sclerosis complex (TSC) develop hamartomatous tumors showing loss of function of the tumor suppressor TSC1 (hamartin) or TSC2 (tuberin) and increased angiogenesis, fibrosis, and abundant mononuclear phagocytes. 16129702 Human
hamartin tumor Patients with tuberous sclerosis complex (TSC) develop hamartomatous tumors showing loss of function of the tumor suppressor TSC1 (hamartin) or TSC2 (tuberin) and increased angiogenesis, fibrosis, and abundant mononuclear phagocytes. 16129702 Human
the tsc gene tumour We suggest that the TSC gene on 16p13.3 functions like a tumour suppressor gene, in accordance with Knudsen's hypothesis. 8162074 Human
the tsc gene tumour These data support the hypothesis that both the TSC genes act as tumour suppressors and that the manifestations of TSC in patients with germline TSC mutations rise from "second hit" somatic mutations inactivating the remaining normal copy of the 8950679 Human
the tsc gene human breast cancer The current study investigated the expression of the TSC gene products and the potential mechanisms of their aberrancy in human breast cancer cells and tissues. 15951164 Human
tsc malignant tumors MBs can also show markers of these lineages, raising the question of the potential involvement of TSC genes in these malignant tumors. 11603814 Human
tsc-1 cardiac neoplasm Rhabdomyomas, the most common pediatric cardiac neoplasm, are frequently associated with tuberous sclerosis, caused by mutations in the TSC-1 and TSC-2 genes. 11357016 Human
tsc1 hamartomas These data support the hypothesis of both a germline and somatic loss-of-function mutation for the development of tuberous sclerosis hamartomas and suggest a tumor-suppressor-like activity also for the TSC1 gene product. 7849708 Human
tsc1 hamartomas Mapping of allele loss in hamartomas may help in the refinement of the location of the TSC1 locus. 7849709 Human
tsc1 hamartomas A proportion of hamartomas from patients with TSC show loss of heterozygosity (LOH) for DNA markers in the region of either the TSC1 gene on chromosome 9q34 or the TSC2 gene on 16p13.3. 8566961 Human
tsc1 hamartomas Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. 8824721 Human
tsc1 hamartomas To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VHL, an 8824721 Human
tsc1 hamartomas We have previously described in tuberous sclerosis (TSC) hamartomas the phenomenon of loss of heterozygosity (LOH) for DNA markers in the region of both the TSC2 gene on chromosome 16p13.3 and the TSC1 gene on 9q34. 8950679 Human
tsc1 hamartomas There was significantly more LOH on 16p13.3, with 16 hamartomas showing LOH around TSC2, and five in the vicinity of TSC1. 8950679 Human
tsc1 hamartomas The recently reported loss of heterozygosity (LOH) at the regions of the TSC1 or TSC2 locus in hamartomas obtained from different organs of patients with established tuberous sclerosis, including cortical tubers, stimulated us to examine epilepsy-associat 9006662 Human
tsc1 malignant tumors LOH analyses suggest that the majority of patients with TSC who develop malignant tumors have germline TSC2, rather than TSC1, gene mutations. 9827727 Human
tsc1 benign tumours Loss of the tumour-suppressor gene TSC1 is responsible for hamartoma development in tuberous sclerosis complex (TSC), which renders several organs susceptible to benign tumours. 10806479 Human
tsc1 neoplasia Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. 11173847 Human
tsc1 hamartomas Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. 11173847 Human
tsc1 benign tumor Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. 11173847 Human
tsc1 bladder tumours Single strand conformation polymorphism (SSCP) and sequence analysis of TSC1 in bladder tumours and cell lines with 9q34 loss of heterozygosity (LOH) has identified five mutations in retained TSC1 alleles. 10353610 Human
tsc1 bladder tumour Our results support the hypothesis that TSC1 can act as a bladder tumour suppressor gene. 10353610 Human
tsc1 hamartomas Tuberous sclerosis (TSC) is an autosomal dominant genetic disorder in which benign hamartomas develop in multiple organs, caused by mutations in either TSC1 or TSC2. 10491404 Human
tsc1 hamartomas Although there was overlap in the spectrum of many clinical features of patients with TSC1 versus TSC2 mutations, some features (grade 2-4 kidney cysts or angiomyolipomas, forehead plaques, retinal hamartomas, and liver angiomyolipomas) were very rare or 11112665 Human
tsc1 hamartomas Tuberous sclerosis (TSC) is a bigenic autosomal dominant disease caused by mutations in one of two tumor-suppressor genes, TSC1 and TSC2, resulting in benign hamartomas and low grade neoplasms in multiple organs including brain, heart, kidney, and skin. 11266527 Human
tsc1 bladder tumour This study assessed a series of bladder tumours and bladder tumour cell lines for sequence variation in the Krüppel-like zinc finger gene ZNF189, the tuberous sclerosis complex gene 1 (TSC1), and the TGF beta receptor type I (TGFBR1). 11329144 Human
tsc1 bladder tumours This study assessed a series of bladder tumours and bladder tumour cell lines for sequence variation in the Krüppel-like zinc finger gene ZNF189, the tuberous sclerosis complex gene 1 (TSC1), and the TGF beta receptor type I (TGFBR1). 11329144 Human
tsc1 bladder tumours Furthermore, one out of 36 bladder tumours had a frameshift mutation in exon 7 of the TSC1 gene. 11329144 Human
tsc1 hamartomas The detection of loss of heterozygosity of TSC1 or TSC2 in hamartomas, the growths characteristically occurring in TSC patients, suggested a tumor suppressor function for their gene products hamartin and tuberin. 11397651 Human
tsc1 hamartomas Tuberous sclerosis (TS) is characterized by the development of hamartomas in various organs and is caused by a germ-line mutation in either TSC1 or TSC2 tumor suppressor genes. 11438694 Human
tsc1 hemangiomas Heterozygous Tsc1 mutant (Tsc1(+/-)) mice developed renal and extra-renal tumors such as hepatic hemangiomas. 11438694 Mouse
tsc1 hamartomas Tuberous sclerosis complex (TSC), an autosomal dominant disease caused by mutations in either TSC1 or TSC2, is characterized by the development of hamartomas in a variety of organs. 11468687 Human
tsc1 hamartomas Concordant with the tumor-suppressor model, loss of heterozygosity (LOH) is known to occur in these hamartomas at loci of both TSC1 and TSC2. 11468687 Human
tsc1 hemangiomas A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. 11875047 Mouse
tsc1 hemangiomas Tsc1 heterozygotes develop kidney cystadenomas and liver hemangiomas at high frequency, but the incidence of kidney tumors is somewhat lower than in Tsc2 heterozygote mice. 11875047 Mouse
tsc1 kidney tumors Tsc1 heterozygotes develop kidney cystadenomas and liver hemangiomas at high frequency, but the incidence of kidney tumors is somewhat lower than in Tsc2 heterozygote mice. 11875047 Mouse
tsc1 cystadenomas Tsc1 heterozygotes develop kidney cystadenomas and liver hemangiomas at high frequency, but the incidence of kidney tumors is somewhat lower than in Tsc2 heterozygote mice. 11875047 Mouse
tsc1 hemangiomas Liver hemangiomas were more common, more severe and caused higher mortality in female than in male Tsc1 heterozygotes. 11875047 Human
tsc1 bladder tumor We have investigated three candidate tumor suppressor genes on chromosome 9 (CDKN2A, DBCCR1, and TSC1), at the DNA level and by expression analysis in a panel of bladder tumor cell lines, many of which have probable LOH along the length of the chromosome, 11921286 Human
tsc1 primary tumours It was noted that 12% of NR tumours, compared with 54% of REC primary tumours (p=0.01), had LOH at all informative markers spanning the TSC1 region. 11920732 Human
tsc1 hamartomas Heterozygous inactivation of either human TSC1 or TSC2 causes tuberous sclerosis (TSC), in which development of benign tumors, hamartomas, occurs via a two-hit mechanism. 12136010 Human
tsc1 benign tumors Heterozygous inactivation of either human TSC1 or TSC2 causes tuberous sclerosis (TSC), in which development of benign tumors, hamartomas, occurs via a two-hit mechanism. 12136010 Human
tsc1 hamartomas Mutations of the TSC1 and TSC2 genes give rise to the clinical disorder of tuberous sclerosis characterized by the development of hamartomas predominantly affecting the central nervous system, kidney, skin, lung, and heart. 12147258 Human
tsc1 hamartomas Tuberous sclerosis complex, an autosomal dominant disease caused by mutations in either TSC1 or TSC2, is characterized by the development of hamartomas in a variety of organs. 12226091 Human
tsc1 hamartomas Tuberous sclerosis complex (TSC) is characterized by the formation of hamartomas in multiple organs resulting from mutations in the TSC1 or TSC2 gene. 12511557 Human
tsc1 malignancy TSC1 and TSC2 mutations are related to various phenotypic manifestations and risks of malignancy, such as an increased incidence of the TSC2 mutation in patients with renal cell carcinoma. 12686801 Human
tsc1 hamartomas Tuberous sclerosis complex (TSC), an autosomal dominant disease caused by mutations in either TSC1 or TSC2, is characterized by the development of hamartomas in a variety of organs. 12773159 Human
tsc1 hamartomas Concordant with the tumour-suppressor model, loss of heterozygosity (LOH) is known to occur in these hamartomas at both TSC1 and TSC2 loci. 12773159 Human
tsc1 benign tumour Mutations in the TSC1 or TSC2 genes cause tuberous sclerosis, a benign tumour syndrome in humans. 12771962 Human
tsc1 bladder tumors Human bladder tumors with 2-hit mutations of tumor suppressor gene TSC1 and decreased expression of p27. 12853839 Human
tsc1 bladder tumors CONCLUSIONS: Our data suggest that the TSC1 mutation possibly has a causative role in the initiation or progression of some bladder tumors and this process is possibly related to the functional loss of p27. 12853839 Human
tsc1 hamartomas Mutation in either TSC1 or TSC2 causes the autosomal dominant disorder tuberous sclerosis, in which widespread hamartomas are seen, some of which have a high level of vascularization. 14500340 Human
tsc1 hamartomas Inactivation of both alleles at TSC1 or TSC2 loci is associated with the development of hamartomas in different organs, and only rarely with malignant neoplasms. 14508401 Human
tsc1 malignancy Tuberous sclerosis (TSC) is a familial tumor syndrome due to mutations in TSC1 or TSC2, in which progression to malignancy is rare. 14561707 Human
tsc1 hamartomas Germline mutations in either TSC1 or TSC2 cause this syndrome, and hamartomas typically display second hit events with loss of the remaining normal allele. 14614311 Human
tsc1 transitional cell carcinoma of the bladder Mutation spectrum of the 9q34 tuberous sclerosis gene TSC1 in transitional cell carcinoma of the bladder. 14633685 Human
tsc1 bladder tumor However, during a search for candidate bladder tumor suppressor genes within the 9q34 region of LOH, we previously found a small number of mutations of TSC1, raising the possibility that this represents a bladder tumor suppressor. 14633685 Human
tsc1 bladder tumors Here, we have carried out mutation analysis of 62 bladder tumors and 33 bladder tumor-derived cell lines to establish the frequency and spectrum of TSC1 mutations in TCC. 14633685 Human
tsc1 hamartoma syndrome Tuberous sclerosis (TSC) is an autosomal dominant hamartoma syndrome due to mutations in either TSC1 or TSC2. 14641237 Human
tsc1 benign tumors of the skin Mutations in either TSC1 or TSC2 cause tuberous sclerosis complex, an autosomal dominant disorder characterized by seizures, mental retardation, and benign tumors of the skin, brain, heart, and kidneys. 14718525 Human
tsc1 hamartomas Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread development of hamartomas, which is caused by mutations in either TSC1 or TSC2. 15150095 Human
tsc1 cancer syndromes The past 15 years has seen the establishment of mouse lines heterozygous or homozygous null for genes known or suspected of being involved in human cancer syndromes, including APC, ATM, BLM, BRCA1, BRCA2, LKB1, MEN1, MLH, MSH, NF1, TP53, PTEN, RB1, TSC1, 15209408 Human
tsc1 chordomas Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2. 15236319 Human
tsc1 chordomas In two cases of sacrococcygeal chordomas in individuals with TSC, one with a germ-line TSC2 mutation and the other with a germ-line TSC1 mutation, we confirmed somatic inactivation of the corresponding wild-type allele by loss of heterozygosity analysis a 15236319 Human
tsc1 lymphangioleiomyomatosis A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis. 15257730 Human
tsc1 epithelial hyperplasia Diffuse renal LAM lesions are presumed to generate multiple renal cysts by constricting the nephron rather than epithelial hyperplasia obstructing lumina, which is analysis of the TSC genes demonstrated that she did not have TSC2/PKD1 contiguous gene synd 15257730 Human
tsc1 hamartomas Mutations in LKB1 cause Peutz-Jeghers syndrome (PJS), and mutations in either TSC1 or TSC2 cause tuberous sclerosis complex--two syndromes characterized by the development of hamartomas. 15261137 Human
tsc1 tumor Tuberous sclerosis is a largely benign tumor syndrome derived from the acquisition of somatic lesions in genes encoding the tumor suppressor products, TSC1 or TSC2. 15380067 Human
tsc1 benign tumor Tuberous sclerosis is a largely benign tumor syndrome derived from the acquisition of somatic lesions in genes encoding the tumor suppressor products, TSC1 or TSC2. 15380067 Human
tsc1 adenocarcinoma of the lung Molecular analysis of the TSC1 gene in adenocarcinoma of the lung. 15541811 Human
tsc1 tumour Tuberous sclerosis is an autosomal dominant human disorder caused by inactivating mutations to either the TSC1 or TSC2 tumour suppressor gene. 15483652 Human
tsc1 cardiac rhabdomyoma A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes. 15601645 Mouse
tsc1 hamartoma syndrome Tuberous sclerosis is a hamartoma syndrome due to mutations in TSC1 or TSC2 in which cardiac rhabdomyomas are seen in approximately 60% of patients. 15601645 Human
tsc1 tumor Recent work has indicated that the TSC1-TSC2 complex plays a role in the pathobiology of a number of tumor predisposition syndromes, including tuberous sclerosis (TSC1/2), Peutz-Jeghers syndrome (LKB1), and Cowden's syndrome (PTEN), in which the TSC/ 15611656 Human
tsc1 tumor syndrome Tuberous sclerosis (TSC) is a tumor syndrome caused by mutation in TSC1 or TSC2 genes. 15851026 Human
tsc1 benign tumour Tuberous sclerosis complex (TSC) is an autosomal dominant benign tumour syndrome caused by mutations to either the TSC1 or TSC2 tumour suppressor gene. 15963462 Human
tsc1 tumour Tuberous sclerosis complex (TSC) is an autosomal dominant benign tumour syndrome caused by mutations to either the TSC1 or TSC2 tumour suppressor gene. 15963462 Human
tsc1 breast tumours TSC1 promoter methylation was also seen in most breast tumours, but only in a limited number of normal tissues. 15951164 Human
tsc1 breast tumour CONCLUSION: TSC1 genes are aberrantly expressed in human breast cancer cell lines and breast tumour tissues and their promoters are seen to be methylated in breast tumour tissues. 15951164 Human
tsc1 human breast cancer CONCLUSION: TSC1 genes are aberrantly expressed in human breast cancer cell lines and breast tumour tissues and their promoters are seen to be methylated in breast tumour tissues. 15951164 Human
tsc1 breast cancer The expression of TSC1 is associated with an unfavourable clinical outcome in patients with breast cancer. 15951164 Human
tsc1 tumors Previous studies revealed different alterations of TSC1 and TSC2 in epilepsy-associated malformations and glio-neuronal tumors despite histopathologic similarities. 16042315 Human
tsc1 tumors Patients with tuberous sclerosis complex (TSC) develop hamartomatous tumors showing loss of function of the tumor suppressor TSC1 (hamartin) or TSC2 (tuberin) and increased angiogenesis, fibrosis, and abundant mononuclear phagocytes. 16129702 Human
tsc1 tumor Patients with tuberous sclerosis complex (TSC) develop hamartomatous tumors showing loss of function of the tumor suppressor TSC1 (hamartin) or TSC2 (tuberin) and increased angiogenesis, fibrosis, and abundant mononuclear phagocytes. 16129702 Human
tuberous sclerosis 1 adenocarcinoma We previously reported that loss of heterozygosity (LOH) in tuberous sclerosis 1 (TSC1)-gene-associated region on chromosome 9q34, was frequently observed in adenocarcinoma (AC) of the lung and its putative precursor lesion, atypical adenomatous hyperplas 15541811 Human
tsc 1 tumors TSC 1 or TSC 2 gene may be responsible for these tumors. 10386052 Human
tsc1 cysts Cells lining the cysts carry fewer and shorter cilia and the expression of several genes associated with glomerulocystic kidney disease (Ofd1 and Tsc1) or encoding proteins involved in cilia structure and/or function (Tg737, Kif3a, and Dctn5) is decreased 17251353 Mouse
tsc1 tumor Inactivating mutations of either the TSC1 or the TSC2 tumor-suppressor genes cause tuberous sclerosis complex (TSC), a benign tumor syndrome in which there is both hyperactivation of mTOR and inhibition of RTK/PI3K/Akt signaling, partially due to reduced 17290308 Human
tsc1 benign tumor Inactivating mutations of either the TSC1 or the TSC2 tumor-suppressor genes cause tuberous sclerosis complex (TSC), a benign tumor syndrome in which there is both hyperactivation of mTOR and inhibition of RTK/PI3K/Akt signaling, partially due to reduced 17290308 Human
tsc1 hamartomas In human, mutations in tuberous sclerosis complex protein 1 or 2 (TSC1/2 or hamartin/tuberin) cause tuberous sclerosis characterized by the occurrence of multiple hamartomas. 17234746 Human
tsc1 lymphangioleiomyomatosis Loss of TSC1 or 2 results in diseases characterized by loss of cell-cycle control, including TSC and lymphangioleiomyomatosis. 16905638 Human
tsc1 tumors Taken together, our study identifies loss of chromosome 9 as the most common chromosomal imbalance in PXAs and suggests important roles for homozygous CDKN2A/p14(ARF)/CDKN2B deletion as well as low TSC1 mRNA expression in these tumors. 16909113 Human
hamartin hamartomas In human, mutations in tuberous sclerosis complex protein 1 or 2 (TSC1/2 or hamartin/tuberin) cause tuberous sclerosis characterized by the occurrence of multiple hamartomas. 17234746 Human
tsc1 tumour Tuberous sclerosis (TSC) is a benign tumour syndrome caused by mutations in either TSC1 or TSC2 tumour suppressor genes. 17301792 Human
tsc1 benign tumour Tuberous sclerosis (TSC) is a benign tumour syndrome caused by mutations in either TSC1 or TSC2 tumour suppressor genes. 17301792 Human
tsc1 renal cell carcinoma Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family. 8592324 Human
tsc1 renal cell carcinomas Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. 11710839 Human
tsc1 renal cell carcinoma TSC1 and TSC2 mutations are related to various phenotypic manifestations and risks of malignancy, such as an increased incidence of the TSC2 mutation in patients with renal cell carcinoma. 12686801 Human
tsc1 lymphangiomyomatosis Two of the most unusual phenotypes in TSC are the apparent metastasis of benign cells carrying TSC1 and TSC2 mutations, resulting in pulmonary lymphangiomyomatosis, and the ability of cells with TSC1 or TSC2 mutations to differentiate into the separate co 16288294 Human
tsc1 metastasis Two of the most unusual phenotypes in TSC are the apparent metastasis of benign cells carrying TSC1 and TSC2 mutations, resulting in pulmonary lymphangiomyomatosis, and the ability of cells with TSC1 or TSC2 mutations to differentiate into the separate co 16288294 Human
tsc1 head and neck cancers Hypoxia-inducible factor-1alpha polymorphisms and TSC1/2 mutations are complementary in head and neck cancers. 16412252 Human
tsc1 tumors The relative levels of HIF-1alpha were significantly greater for tumors possessing a HIF-1alpha polymorphism or mutation within exon 12, whereas tumors possessing a deletion or polymorphism in TSC1/TSC2 displayed a trend for higher levels of HIF-1alpha. 16412252 Human
tsc1 tumors TSC patients carry a mutant TSC1 or TSC2 gene in each of their somatic cells, and loss of heterozygosity has been documented in a wide variety of TSC tumors. 16713332 Human
tsc1 renal cyst Tsc1 Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation in Tsc1+/- Mice. 16912167 Mouse
tsc1 cystadenomas Here, we identified somatic Tsc1 mutations (second hits) in approximately 80% of cystadenomas and renal cell carcinomas, but only 31.6% of cysts from Tsc1(+/-) mice (P < 0.0003), raising the possibility that haploinsufficiency for Tsc1 plays a role in cys 16912167 Mouse
tsc1 cyst Here, we identified somatic Tsc1 mutations (second hits) in approximately 80% of cystadenomas and renal cell carcinomas, but only 31.6% of cysts from Tsc1(+/-) mice (P < 0.0003), raising the possibility that haploinsufficiency for Tsc1 plays a role in cys 16912167 Mouse
tsc1 cysts Here, we identified somatic Tsc1 mutations (second hits) in approximately 80% of cystadenomas and renal cell carcinomas, but only 31.6% of cysts from Tsc1(+/-) mice (P < 0.0003), raising the possibility that haploinsufficiency for Tsc1 plays a role in cys 16912167 Mouse
tsc1 renal cell carcinomas Here, we identified somatic Tsc1 mutations (second hits) in approximately 80% of cystadenomas and renal cell carcinomas, but only 31.6% of cysts from Tsc1(+/-) mice (P < 0.0003), raising the possibility that haploinsufficiency for Tsc1 plays a role in cys 16912167 Mouse
tuberous sclerosis 1 atypical adenomatous hyperplasia We previously reported that loss of heterozygosity (LOH) in tuberous sclerosis 1 (TSC1)-gene-associated region on chromosome 9q34, was frequently observed in adenocarcinoma (AC) of the lung and its putative precursor lesion, atypical adenomatous hyperplas 15541811 Human
tsc1 multifocal micronodular pneumocyte hyperplasia Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with tuberous sclerosis genes TSC1 and TSC2. 11564212 Human
tsc1 multiple renal cysts CONCLUSION: This patient therefore illustrates that clinical manifestations of TSC are sufficiently diverse as to allow a forme fruste of TSC that mimics sporadic LAM and that TSC1 mutation can cause multiple renal cysts resulting in renal failure. 15257730 Human
tsc1 hamartomas TSC1 and TSC2 are two recently identified tumour suppressor genes encoding hamartin and tuberin, respectively, and involved in pathogenesis of tuberous sclerosis, neurological disorder connected with the development of hamartomas in numerous organ systems 16206276 Human
tsc1 benign tumors Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is characterized by benign tumors (hamartomas and hamartias) involving multiple organ systems, due to inactivating mutations in TSC1 or TSC2. 16244323 Human
tsc1 hamartomas Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is characterized by benign tumors (hamartomas and hamartias) involving multiple organ systems, due to inactivating mutations in TSC1 or TSC2. 16244323 Human
tsc1 hamartomas Benign hamartomas develop in multiple organs, believed to be caused by somatic mutation in addition to germ line mutation to cause loss of both alleles of either the TSC1 or TSC2 tumor suppressor gene, with resultant dysregulated growth due to loss of ham 16390268 Human
tsc1 lymphangioleiomyomatosis The TSC1 and TSC2 proteins, which function as a TSC1/TSC2 tumor suppressor complex, are associated with lymphangioleiomyomatosis (LAM), a genetic disorder characterized by the abnormal growth of smooth muscle-like cells in the lungs. 16424383 Human
tsc1 lymphangioleiomyomatosis Lymphangioleiomyomatosis can occur either independently of other disease or in association with tuberous sclerosis complex, a tumor-suppressor gene syndrome caused by mutations that inactivate either TSC1 or TSC2. 16575396 Human
tsc1 benign tumors Mutations in the human Tsc1 and Tsc2 genes predispose to tuberous sclerosis complex (TSC), a disorder characterized by the wide spread of benign tumors. 16624901 Human
hamartin tumour Hamartin and tuberin: working together for tumour suppression. 16206276 Human
hamartin hamartomas TSC1 and TSC2 are two recently identified tumour suppressor genes encoding hamartin and tuberin, respectively, and involved in pathogenesis of tuberous sclerosis, neurological disorder connected with the development of hamartomas in numerous organ systems 16206276 Human
hamartin hamartomas Benign hamartomas develop in multiple organs, believed to be caused by somatic mutation in addition to germ line mutation to cause loss of both alleles of either the TSC1 or TSC2 tumor suppressor gene, with resultant dysregulated growth due to loss of ham 16390268 Human
tsc1 carcinogenesis However, the cases reported here are the first to suggest a similar role for the TSC1 gene in renal cell carcinogenesis. 8592324 Human
tsc1 tumor Allelic loss or loss of heterozygosity (LOH) in TSC lesions has previously been reported on chromosomes 16p13 and 9q34, the locations of the TSC2 and TSC1 genes, respectively, suggesting that the TSC genes act as tumor-suppressor genes. 8755927 Human
tsc1 adenocarcinoma The incidence of associated AAH was significantly higher in adenocarcinoma harboring a partial LOH in the TSC1-associated region (p = 0.0048). 9699531 Human
tsc squamous cell carcinoma PTCH located at 9q22.3, as well as the TSC gene at 9q34 are involved in squamous cell carcinoma rather than transitional carcinoma. 17102820 Human
tsc transitional carcinoma PTCH located at 9q22.3, as well as the TSC gene at 9q34 are involved in squamous cell carcinoma rather than transitional carcinoma. 17102820 Human
tsc1 tumour Loss of the tumour-suppressor gene TSC1 is responsible for hamartoma development in tuberous sclerosis complex (TSC), which renders several organs susceptible to benign tumours. 10806479 Human
tsc1 neoplasms Tuberous sclerosis (TSC) is a bigenic autosomal dominant disease caused by mutations in one of two tumor-suppressor genes, TSC1 and TSC2, resulting in benign hamartomas and low grade neoplasms in multiple organs including brain, heart, kidney, and skin. 11266527 Human
tsc1 tumorigenesis This study thus provides evidence that, in both TSC1 and TSC2, somatic mutations resulting in the loss of wild-type alleles may not be necessary in some tumor types-and that other mechanisms may contribute to tumorigenesis in this setting. 11468687 Human
tsc1 adenocarcinomas Five (28%) AAHs and seven (41%) adenocarcinomas harbored LOH at loci adjacent to the TSC1 gene. 11696455 Human
tsc1 rcc Germline mutations of the TSC1 and TSC2 genes cause tuberous sclerosis (TSC), a multi-system hamartoma syndrome that is also associated with RCC. 11710839 Human
tsc1 rcc Furthermore, RT-PCR analysis of TSC1 and TSC2 on total RNA from 8 clear-cell RCC cell lines confirmed expression of both TSC genes. 11710839 Human
tsc1 carcinogenesis These data indicate that biallelic inactivation of TSC1 or TSC2 is not frequent in sporadic RCC and suggests that the molecular mechanisms of renal carcinogenesis in TSC are likely to be distinct. 11710839 Human
tsc1 rcc These data indicate that biallelic inactivation of TSC1 or TSC2 is not frequent in sporadic RCC and suggests that the molecular mechanisms of renal carcinogenesis in TSC are likely to be distinct. 11710839 Human
tsc1 carcinogenesis These findings suggest that mutations in the TSC1 and TSC2 genes lead to clear cell renal carcinogenesis via an alternate pathway not involving VHL mutations. 11904337 Human
tsc1 tcc It also identifies the TSC1 locus as a candidate for a TSG, which drives recurrence in a proportion of TCC patients. 11920732 Human
tsc1 carcinogenesis The genes associated with bladder carcinogenesis include oncogenes (such as H-ras, FGFR3, erbB2, CCND1, mdm2), tumor suppressor genes (such as INK4A/ARF, Rb, TP53, PTEN, TSC1, PTCH, DBCCR1), and DNA mismatch repair genes, etc. 12561447 Human
tsc1 tumorigenesis We believe that somatic mutations in TSC1 and TSC2 resulting in the loss of wild-type alleles may not be necessary in some tumour types, and other mechanisms may contribute to tumorigenesis in this setting. 12773159 Human
tsc1 tumour In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions. 12773163 Human
tsc1 bladder tumor Here, we have carried out mutation analysis of 62 bladder tumors and 33 bladder tumor-derived cell lines to establish the frequency and spectrum of TSC1 mutations in TCC. 14633685 Human
tsc1 tcc Here, we have carried out mutation analysis of 62 bladder tumors and 33 bladder tumor-derived cell lines to establish the frequency and spectrum of TSC1 mutations in TCC. 14633685 Human
tsc1 lymphangioleiomyomatosis This study was undertaken to determine whether the mTOR/p70 S6 kinase signaling pathway is activated in lymphangioleiomyomatosis-associated angiomyolipomas lacking TSC1/TSC2 loss of heterozygosity. 16575396 Human
tsc1 tumor BACKGROUND: Tuberous sclerosis complex (TSC) is associated with mutations in two likely tumor-suppressor genes (TSC1 and TSC2) and characterized by the development of tumor-like growths (angiofibromas) in a variety of tissues and organs, particularly brai 16965334 Human
tsc1 cysts Both AML and cysts were significantly more common and more numerous in TSC2 than in TSC1. 17003820 Human
tsc1 aml Both AML and cysts were significantly more common and more numerous in TSC2 than in TSC1. 17003820 Human
tsc1 hamartoma syndromes The tumor-suppressor proteins encoded by genes responsible for several other hamartoma syndromes, LKB1, TSC1/2, and PTEN, have been shown to be involved in the mammalian target of rapamycin (mTOR) signaling pathway. 17028174 Human
hamartin hamartomas Hamartomas and tubers from defects in hamartin-tuberin. 15243489 Human

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