|
Vomiting
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Vertigo
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Ventricular Fibrillation
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Vascular Diseases
|
0.300 |
Biomarker
|
group |
CTD_human |
Renal tubular NEDD4-2 deficiency causes NCC-mediated salt-dependent hypertension.
|
23348737 |
2013 |
|
Varicosity
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Urinary Incontinence
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Uric acid urolithiasis
|
0.010 |
Biomarker
|
disease |
BEFREE |
We analyzed the capacities of pertinent parameters (determined by single-energy non-contrast computed tomography [NCCT]) and urinary pH to predict uric acid stones.
|
30781839 |
2019 |
|
Tumor Progression
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
In tuberous sclerosis (TSC)-associated tumors, mutations in the TSC genes lead to aberrant activation of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway. mTORC1 signaling impacts many biological processes including the epithelial-mesenchymal transition (EMT), which is suggested to promote tumor progression and metastasis in various types of cancer.
|
31207499 |
2019 |
|
Tumor Cell Invasion
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
NCC-MFS1-C1 cells were maintained as a monolayer culture for over 20 passages in 19 months; the cells exhibited spindle-like morphology, continuous growth, and ability for spheroid formation and invasion.
|
30737712 |
2019 |
|
Tumor Cell Invasion
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
Forced expression of RARβ reversed the effects of miR-29b overexpression in proliferation, migration, and invasion, indicating that it is a critical target. miR-29b expression correlated with low RARβ expression in renal clear cell carcinomas and bladder urothelial carcinomas, tumors associated with TSC gene mutations.
|
31420607 |
2019 |
|
TUBEROUS SCLEROSIS 1 (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
The observations indicate that TSC1 mutations are all inactivating, suggest that TSC1 disease occurs in only 15-20% of the sporadic TSC population, and demonstrate that presymptomatic TSC does occur.
|
9924605 |
1998 |
|
Tuberous Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The tuberous sclerosis (TSC) genes, TSC1 and TSC2, encode hamartin and tuberin, respectively, and are putative tumor suppressor genes that were originally identified due to their involvement in the inherited autosomal dominant disorder tuberous sclerosis.
|
19250671 |
2009 |
|
Tuberous Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The identification of the TSC1 gene on chromosome 9q, along with functional studies and mutational analyses of both TSC genes, will likely provide fascinating insights into the pathogenesis of TSC.
|
7670658 |
1995 |
|
Tuberous Sclerosis
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Biallelic TSC gene inactivation in tuberous sclerosis complex.
|
20498439 |
2010 |
|
Tuberous Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using mouse genetics, we find that at the lowest concentrations of metformin that inhibit hepatic mTORC1 signaling, this inhibition is dependent on AMPK and the tuberous sclerosis complex (TSC) protein complex (TSC complex).
|
28089566 |
2017 |
|
Tuberous Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of tuberous sclerosis complex (TSC) gene mutations has fostered understanding of how brain lesions in TSC are formed.
|
10534239 |
1999 |
|
Tuberous Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TS pathology is caused by mutations in tuberous sclerosis complex (TSC) genes and is associated with insulin resistance, decreased glycogen synthase kinase 3β (GSK3β) activity, activation of the mammalian target of rapamycin complex 1 (mTORC1), and subsequent increase in protein synthesis.
|
28646232 |
2017 |
|
Tuberous Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Both diseases are caused by mutations of TSC1 or TSC2 (TSC is tuberous sclerosis complex) that impair GAP (GTPase-activating protein) activity of the TSC1-TSC2 complex for Rheb, leading to inappropriate activity of signalling downstream of mTORC1 (mTOR complex 1). mTOR inhibitors are already used in a variety of clinical settings including as immunosuppressants, anticancer agents and antiproliferative agents in drug-eluting coronary artery stents.
|
19143643 |
2009 |
|
Tuberous Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MFF was highly specific for TSC.MFF presence was associated with TSC gene mutations and with brain or multiorgan involvement; their number per patient was correlated with the degree of multiorgan involvement.
|
26069922 |
2015 |
|
Tuberous Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC [MIM 191090 and MIM 191100]) is an autosomal dominant disorder characterized by hamartomas in many organs.
|
10205261 |
1999 |
|
Tuberous Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex lymphangioleiomyomatosis (TSC-LAM) is a rare disease, which may develop an intractable pneumothorax.
|
31612306 |
2019 |
|
Tuberous Sclerosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In tuberous sclerosis complex (TSC), a substantially increased risk of developing epilepsy is present as a result of a disruption of a TSC gene expression in the brain and secondary abnormal cellular differentiation, migration, and proliferation.
|
20358377 |
2010 |
|
Tuberous Sclerosis
|
0.100 |
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 |
|
Tuberous Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Analysis of the basic genetic defect in tuberous sclerosis would be greatly expedited by definitive determination of the chromosomal location of the TSC gene or genes.
|
2303253 |
1990 |
|
Tuberous Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identifying functional polymorphic variants of interacting partners affecting TSC gene functions will delineate the mechanisms leading to TSC disease severity, ultimately resulting in treatment strategies.
|
19005330 |
2008 |