TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) are caused by inactivating mutations in TSC1 or TSC2, leading to mTORC1 hyperactivation. 30816188 2019
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE Lymphangioleiomyomatosis (LAM), a destructive lung disease that affects primarily women, is caused by loss-of-function mutations in TSC1 or TSC2, leading to hyperactivation of mechanistic/mammalian target of rapamycin complex 1 (mTORC1). 31299246 2019
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 Biomarker disease BEFREE Endostatin levels were associated with DLCO and were higher in subjects with TSC-associated LAM compared to sporadic LAM. 30922357 2019
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE LAM is caused by inactivating mutations in the tuberous sclerosis complex (TSC) genes, resulting in hyperactivation of mechanistic/mammalian target of rapamycin complex 1 (mTORC1). 29171770 2018
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE In addition, recent data confirm the potential of next-generation sequencing to detect low-prevalence mutations in tuberous sclerosis (TSC) genes in sporadic LAM. 29927757 2018
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer. 29669930 2018
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 Biomarker disease BEFREE Lymphangioleiomyomatosis (LAM), a rare disease of women, is associated with cystic lung destruction resulting from the proliferation of abnormal smooth muscle-like LAM cells with mutations in the tuberous sclerosis complex (TSC) genes <i>TSC1</i> and/or <i>TSC2</i> The mutant genes and encoded proteins are responsible for activation of the mechanistic target of rapamycin (mTOR), which is inhibited by sirolimus (rapamycin), a drug used to treat LAM. 29339522 2018
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE Pulmonary lymphangioleiomyomatosis (LAM) is a slow-progressing metastatic disease that is driven by mutations in the tumor suppressor tuberous sclerosis complex 1/2 (TSC1/2). 30095976 2018
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 Biomarker disease BEFREE Moreover, rapamycin-enhanced migration of TSC2-null cells was inhibited by the uPA inhibitor UK122, dexamethasone, and a FOXO inhibitor. uPA-knock-out mice developed fewer and smaller TSC2-null lung tumors, and introduction of uPA shRNA in tumor cells or amiloride-induced uPA inhibition reduced tumorigenesis <i>in vivo</i> These findings suggest that interference with the uPA-dependent pathway, when used along with rapamycin, might attenuate LAM progression and potentially other TSC-related disorders. 28972182 2017
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE The detection of a homozygous deletion of TSC1 driving a predicted case of sporadic lymphangioleiomyomatosis, consistent with the common two-hit TSC2 mutation model, has never been reported for sporadic lymphangioleiomyomatosis. 28643793 2017
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE Our results illuminate the basis for lymphangioleiomyomatosis growth and demonstrate the therapeutic potential of targeting Syk in this and other settings driven by TSC genetic mutation.<i></i>. 28202529 2017
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE AML and LAM are etiologically linked to mutations in the tsc2 and tsc1 genes in the case of LAM. 27289491 2016
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE Our results indicate that TSC2 and less commonly TSC1 alterations are the primary essential driver event in angiomyolipoma/LAM, whereas other somatic mutations are rare and likely do not contribute to tumor development. 27494029 2016
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 Biomarker disease BEFREE Loss of Tsc1 in fibroblasts in mice does not lead to a model of angiomyolipoma or lymphangioleiomyomatosis. 27907099 2016
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE LAM is caused by mutations in the tuberous sclerosis complex (TSC) genes. 25780943 2015
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 Biomarker disease BEFREE Collectively, the results of this study reveal novel LAM biomarkers linked to breast cancer metastasis to lung and to cell stemness, which in turn might guide the assessment of additional or complementary therapeutic opportunities for LAM. 26167915 2015
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE LAM occurs sporadically or in patients with tuberous sclerosis complex (TSC) and is etiologically linked to mutations in the TSC1 and TSC2 genes. 24570392 2014
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE Mutations in tuberous sclerosis (TSC) genes cause the genetic disorder TSC, as well as other neoplasms, including lymphangioleiomyomatosis (LAM) and angiomyolipomas (AMLs). 25476905 2014
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE The mammalian/mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway is hyperactivated in a variety of cancers and disorders, including lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC), which are characterized by mutations in tumor suppressors TSC1 or TSC2. 24304514 2014
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE We hypothesized that these cellular mechanisms of OPG may be involved in the growth and proliferation of lymphangioleiomyomatosis (LAM) cells, abnormal smooth muscle-like cells with mutations in one of the tuberous sclerosis complex tumor-suppressor genes (TSC1/TSC2) that cause LAM, a multisystem disease characterized by cystic lung destruction, lymphatic infiltration, and abdominal tumors. 23867796 2013
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE Progressive lung tissue destruction in lymphangioleiomyomatosis (LAM) occurs as a result of excessive proliferation of LAM cells caused by a mutation in one of the tuberous sclerosis complex suppressor genes, TSC1 or TSC2. 23690211 2013
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE In HBV-D treated patients the dominant resistance mutation was rtL80V (31.4%) and rtM204I (60%) in LAM+ADV group while LAM-treated patients showed a preference of rtM204V (51.9%). 23026293 2012
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 GeneticVariation disease BEFREE No patients with S-LAM with TSC1 LOH were identified, suggesting that TSC2 abnormalities are responsible for the vast majority of S-LAM cases and that TSC1-disease may be subclinical. 20639436 2010
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 Biomarker disease BEFREE We conclude that TSC1/TSC2 deficiency leads to MMP-2 overproduction that is rapamycin-insensitive, and that several genes exhibit similar patterns, suggesting that TSC1/TSC2-dependent, but mammalian target of rapamycin-independent, pathways may be involved in the pathogenesis of LAM. 19395678 2010
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis
0.700 Biomarker disease BEFREE The TSC1/TSC2 protein-related signaling pathways are involved in the pathogenesis and may provide novel therapeutic targets for lymphangioleiomyomatosis and diseases associated with TSC1 / TSC2 dysfunction. 21128782 2010