|
Adrenal Gland Pheochromocytoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
PCC is triggered by mutations which disrupt interactions at the elongin C binding site.
|
19408298 |
2009 |
|
Alzheimer's Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Fifteen genes (RBM8A, RHBDF2, TNFRSF10B, ACP1, ANKRD39, CA10, CAMK4, CBLN4, LOC284214, NOVA1, PAK1, PPEF1, RGS4, TCEB1 and TMEM118) are identified as hub genes, and the hub gene-based LASSO model can accurately predict the occurrence of AD (AUC = 0.948).
|
31816601 |
2019 |
|
Asthma
|
0.010 |
Biomarker
|
disease |
BEFREE |
ΔSIII was significantly larger in children with positive response to β2-agonist, and in uncontrolled asthmatics.
|
30809972 |
2019 |
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Finally, it was shown that the Elongin C gene was overexpressed and amplified also in breast cancer cell line SK-Br-3.
|
12004003 |
2002 |
|
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
The position of our FISH probe and data of a previously performed high-resolution CGH study in the breast cancer cell line SK-BR-3 involve TCEB1 and TMEM70 as new possible candidate oncogenes at 8q21 in breast cancer.
|
20139910 |
2010 |
|
Breast Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Epigenetic silencing by promoter DNA methylation for VHL and the complex genes, CUL2, elongin C (TCEB1), elongin B (TCEB2) and RBX1, is unlikely to play a role in HIF-1α upregulation in breast carcinomas.
|
20680678 |
2010 |
|
Brugada Syndrome (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Prominent S in lead I, SII > SIII and +ve Tzou criteria can be used as effective signs for predicting VTA in patients with BrS.
|
29608225 |
2018 |
|
Carcinoma
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Here, fluorescence in situ hybridization on tissue microarray showed high-level amplification of the Elongin C gene in 8 (23%) of 35 hormone-refractory carcinomas but in none of the untreated prostate carcinomas (n = 35).
|
12004003 |
2002 |
|
Central neuroblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The currently recognized 2016 World Health Organization classification for RCC subtypes is briefly discussed, including new diagnostic entities (clear cell papillary RCC, hereditary leiomyomatosis and RCC-associated RCC, succinate dehydrogenase-deficient RCC, tubulocystic RCC, and acquired cystic disease-associated RCC) and areas of evolving RCC classification, such as transcription elongation factor B subunit 1 (TCEB1)-mutated RCC/RCC with angioleiomyoma-like stroma/RCC with leiomyomatous stroma, RCC associated with anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangement, thyroidlike follicular RCC, and RCC in neuroblastoma survivors.
|
27684973 |
2016 |
|
Childhood Neuroblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The currently recognized 2016 World Health Organization classification for RCC subtypes is briefly discussed, including new diagnostic entities (clear cell papillary RCC, hereditary leiomyomatosis and RCC-associated RCC, succinate dehydrogenase-deficient RCC, tubulocystic RCC, and acquired cystic disease-associated RCC) and areas of evolving RCC classification, such as transcription elongation factor B subunit 1 (TCEB1)-mutated RCC/RCC with angioleiomyoma-like stroma/RCC with leiomyomatous stroma, RCC associated with anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangement, thyroidlike follicular RCC, and RCC in neuroblastoma survivors.
|
27684973 |
2016 |
|
Chromophobe Renal Cell Carcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
|
Clear cell papillary renal cell carcinoma
|
0.040 |
Biomarker
|
disease |
BEFREE |
We selected 14 cases of CCPRCC with a wide spectrum of morphological features diagnosed on morphology and CK7 immunoreactivity and analysed them using a panel of immunohistochemical markers, focusing on 34βE12 and related CKs 1,5,10 and 14 and several molecular analyses such as fluorescence in situ hybridisation (FISH), array comparative genomic hybridisation (aCGH), VHL methylation, VHL and TCEB1 sequencing and multiplex ligation-dependent probe amplification (MLPA).
|
27923499 |
2017 |
|
Clear cell papillary renal cell carcinoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Nine could be reclassified as distinct or emerging entities: translocation renal cell carcinoma (n=3), TCEB1 mutant renal cell carcinoma (n=3), papillary renal cell carcinoma (n=2), and clear cell papillary renal cell carcinoma (n=1).
|
28731045 |
2017 |
|
Clear cell papillary renal cell carcinoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Of the remaining 8 tumors with IHC staining patterns that do not fit either ccRCC or ccpRCC only 3 of these had mutations in the recently described TCEB1 gene with concurrent monosomy of chromosome 8.
|
30986793 |
2019 |
|
Clear cell papillary renal cell carcinoma
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 11 tumors from two distinct cohorts with TCEB1 mutations along with an expanded cohort to assess whether these should be considered an entity distinct from clear cell renal cell carcinoma and clear cell papillary renal cell carcinoma.
|
25676555 |
2015 |
|
Clear-cell metastatic renal cell carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Importantly, recent molecular analyses suggest the existence of another 'VHL wild-type' evolutionary subtype of clear cell RCC in addition to TCEB1 mutated RCC and clear cell papillary renal cancer.
|
30565303 |
2019 |
|
Collecting Duct Carcinoma of the Kidney
|
0.300 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of clear-cell renal cell carcinoma.
|
23797736 |
2013 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
This descriptive study, although small, demonstrates the difficulty in applying the current World Health Organization provisional criteria at a single institution with suggestion of an immunohistochemcial panel that may assist in the diagnosis of TCEB1-mutated RCC with leiomyomatous stroma.
|
30986793 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
Biomarker
|
disease |
CTD_human |
Defective VHL-mediated proteolysis was a common feature of ccRCC, which was caused not only by VHL inactivation but also by new hotspot TCEB1 mutations, which abolished Elongin C-VHL binding, leading to HIF accumulation.
|
23797736 |
2013 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the von Hippel-Lindau (VHL) gene are pathogenic in VHL disease, congenital polycythaemia and clear cell renal carcinoma (ccRCC). pVHL forms a ternary complex with elongin C and elongin B, critical for pVHL stability and function, which interacts with Cullin-2 and RING-box protein 1 to target hypoxia-inducible factor for polyubiquitination and proteasomal degradation.
|
24969085 |
2014 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Importantly, recent molecular analyses suggest the existence of another 'VHL wild-type' evolutionary subtype of clear cell RCC in addition to TCEB1 mutated RCC and clear cell papillary renal cancer.
|
30565303 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
The last 30 years of research in renal cell carcinoma (RCC) has revealed that the vast majority of RCC histologies share a recurrent pattern of mutations to metabolic genes, including VHL, MTOR, ELOC, TSC1/2, FH, SDH, and mitochondrial DNA.
|
31155438 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
Biomarker
|
disease |
BEFREE |
Pathologically, all TCEB1-mutated tumors shared characteristic features including thick fibromuscular bands transecting the tumor, pure clear cell cytology frequently with cells showing voluminous cytoplasm, and clear cell renal cell carcinoma-like acinar areas associated with infolding tubular and focally papillary architecture.
|
25676555 |
2015 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Nine could be reclassified as distinct or emerging entities: translocation renal cell carcinoma (n=3), TCEB1 mutant renal cell carcinoma (n=3), papillary renal cell carcinoma (n=2), and clear cell papillary renal cell carcinoma (n=1).
|
28731045 |
2017 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.380 |
Biomarker
|
disease |
BEFREE |
The currently recognized 2016 World Health Organization classification for RCC subtypes is briefly discussed, including new diagnostic entities (clear cell papillary RCC, hereditary leiomyomatosis and RCC-associated RCC, succinate dehydrogenase-deficient RCC, tubulocystic RCC, and acquired cystic disease-associated RCC) and areas of evolving RCC classification, such as transcription elongation factor B subunit 1 (TCEB1)-mutated RCC/RCC with angioleiomyoma-like stroma/RCC with leiomyomatous stroma, RCC associated with anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangement, thyroidlike follicular RCC, and RCC in neuroblastoma survivors.
|
27684973 |
2016 |