|
Abdominal obesity metabolic syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We therefore studied microsatellite markers close to the thiazide-sensitive Na-Cl cotransporter on chromosome 16 and a quantitative trait locus for abdominal obesity-metabolic syndrome (AOMS2) on chromosome 17, which have been found to be linked to hypertension in a previous genome scan in Chinese.
|
15716982 |
2005 |
|
Abdominal Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal T-wave
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute Cerebrovascular Accidents
|
0.010 |
Biomarker
|
disease |
BEFREE |
Acute stroke thrombolysis can be administered immediately following NCCT in acute ischemic stroke patients assessed within 4.5 h of symptom onset.
|
31352585 |
2019 |
|
Acute leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
These phenomena led us to hypothesize that TSC gene might be involved in acute leukemia (AL).
|
19250671 |
2009 |
|
Acute leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Now the first evidence is provided for an involvement of the TSC genes in acute leukemia.
|
19286253 |
2009 |
|
Acute monocytic leukemia
|
0.020 |
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 |
|
Acute monocytic leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Anatomic complexity and tumor size were also higher among TSC-related AMLs.
|
31619031 |
2019 |
|
Acute pyelonephritis
|
0.010 |
Biomarker
|
disease |
BEFREE |
This can be incorporated in the diagnostic criteria of APN in NCCT in the emergency setting.
|
29055617 |
2018 |
|
Adenocarcinoma of lung (disorder)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We previously reported loss of heterozygosity (LOH) in tuberous sclerosis (TSC) gene-associated regions to frequently be observed in lung adenocarcinoma with multiple AAHs.
|
11696455 |
2001 |
|
Adenomatous Polyposis Coli
|
0.010 |
Biomarker
|
disease |
BEFREE |
These findings provide novel functional links between the TSC genes and other tumor suppressors responsible for Cowden's disease (PTEN), Peutz-Jeghers syndrome (LKB1), and familial polyposis (APC).
|
15565817 |
2004 |
|
Adrenal Cushing's syndrome
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Potassium has recently been identified as an important driver of NCC activity, and low serum potassium may also contribute to increased renal sodium reabsorption and hypertension in CS.
|
29726949 |
2018 |
|
Adult Fanconi syndrome
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Adult Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications.
|
31258848 |
2019 |
|
Adult Subependymal Giant Cell Astrocytoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We also briefly review two important advances in this area: the treatment of medulloblastomas in patients with mutations in the PTCH1 gene, and the discovery of deregulated mammalian target of rapamycin as a major oncogenic driver molecule in patients with TSC mutations and subependymal giant cell astrocytoma.
|
21042217 |
2010 |
|
Adult Synovial Sarcoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our analyses revealed that the primary tumor and NCC-SS1-C1 cell line harbored the SS18-SSX1 fusion gene typical of synovial sarcoma and similar proteomics profiles.
|
29450702 |
2018 |
|
Alzheimer's Disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Recent data suggest that functional inactivation of TSC proteins might also be involved in the development of other diseases not associated with TSC, such as sporadic bladder cancer, breast cancer, ovarian carcinoma, gall bladder carcinoma, non-small-cell carcinoma of the lung, and Alzheimer's disease.
|
16713332 |
2006 |
|
Angiomyolipoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Three types of tumors occur in TSC kidneys: (1) angiomyolipomas, which are benign tumors composed of smooth muscle, fat, and vessels; (2) epithelial cysts; and (3) malignant tumors.
|
9874854 |
1998 |
|
Angiomyolipoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
This model may prove useful for studying the biology and effect of drugs on angiomyolipoma and diseases related to TSC.
|
18988705 |
2009 |
|
Angiomyolipoma
|
0.040 |
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 |
|
Angiomyolipoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
|
25782670 |
2015 |
|
Angiomyolipoma of kidney
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The results indicated a high level of TSC gene mutation (80%; 20/25) in TSC-RAML patients, with higher frequency of TSC2 mutation (68%; 17/25) than TSC1 mutation (12%; 3/25).
|
30036593 |
2018 |
|
Angiomyolipoma of kidney
|
0.030 |
Biomarker
|
disease |
BEFREE |
Patients with TSC - related renal angiomyolipoma (AML) are eligible for targeted therapy with mTOR inhibitors, avoiding the morbidity of interventional management.
|
31619031 |
2019 |
|
Angiomyolipoma of kidney
|
0.030 |
Biomarker
|
disease |
BEFREE |
This model may prove useful for studying the biology and effect of drugs on angiomyolipoma and diseases related to TSC.
|
18988705 |
2009 |
|
Arteriosclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to test a novel modified single chain anti-ED-B antibody (scFv) conjugated for near infrared fluorescence imaging (NIRF) with tetrasulfonated carbocyanine-maleimide (TSC-scFv) and to examine the association of ED-B with the presence of macrophages in a murine model of atherosclerosis.
|
17468934 |
2007 |