Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations.
Cambridge, United Kingdom. In N Engl J Med, Nov 2015
Their aldosterone-producing adenomas harbored activating mutations of CTNNB1, encoding β-catenin in the Wnt cell-differentiation pathway, and expressed LHCGR and GNRHR, encoding gonadal receptors, at levels that were more than 100 times as high as the levels in other aldosterone-producing adenomas.
Clinicopathological correlates of hyperparathyroidism.
Toronto, Canada. In J Clin Pathol, Oct 2015
Recently, molecular mechanisms underlying possible tumour suppressor genes (MEN1, CDC73/HRPT2, CDKIs, APC, SFRPs, GSK3β, RASSF1A, HIC1, RIZ1, WT1, CaSR, GNA11, AP2S1) and proto-oncogenes (CCND1/PRAD1, RET, ZFX, CTNNB1, EZH2) have been uncovered in the pathogenesis of hyperparathyroidism.
New molecular therapies for hepatocellular carcinoma.
Barcelona, Spain. In Clin Res Hepatol Gastroenterol, Sep 2015
Advance in our knowledge of the human genome has provided a comprehensive picture of commonly mutated genes in patients with HCC including mutations in the TERT promoter, CTNNB1, TP53 and ARID1A along with other amplifications (FGF19, VEGFA) or homozygous deletions (p16) as the most frequent alterations.
Gene mutations in gastric cancer: a review of recent next-generation sequencing studies.
Shanghai, China. In Tumour Biol, Sep 2015
Mutations in genes relating to genome integrity (TP53, BRCA2), chromatin remodeling (ARID1A), cell adhesion (CDH1, FAT4, CTNNA1), cytoskeleton and cell motility (RHOA), Wnt pathway (CTNNB1, APC, RNF43), and RTK pathway (RTKs, RAS family, MAPK pathway, PIK pathway) are discussed.
Molecular biomarkers in colorectal carcinoma.
Granada, Spain. In Pharmacogenomics, 2014
Gene alterations described for colorectal cancer include genome instability (microsatellite and chromosomal instability), CpG islands methylator phenotype, microRNA, histone modification, protein biomarkers, gene mutations (RAS, BRAF, PI3K, TP53, PTEN) and polymorphisms (APC, CTNNB1, DCC).
Endometriosis and ovarian cancer: links, risks, and challenges faced.
Chicago, United States. In Int J Womens Health, 2014
Advances in technology, primarily the ability for whole genome sequencing, have led to the discovery of new mutations and a better understanding of the function of previously identified genes and pathways associated with endometriosis associated ovarian cancers (EAOCs) that include PTEN, CTNNB1 (β-catenin), KRAS, microsatellite instability, ARID1A, and the unique role of inflammation in the development of EAOC.
Analysis of differentially expressed genes based on microarray data of glioma.
Nanjing, China. In Int J Clin Exp Med, 2014
In addition, the transcription factor analysis showed these DEGs were regulated by the binding sites of transcription factors GLI2, SP1, SMAD7, SMAD3, RELA, STAT5B, CTNNB1, STAT5A, TFAP2A and SP3.
Integrated genomic characterization of adrenocortical carcinoma.
Paris, France. In Nat Genet, 2014
We performed exome sequencing and SNP array analysis of 45 ACCs and identified recurrent alterations in known driver genes (CTNNB1, TP53, CDKN2A, RB1 and MEN1) and in genes not previously reported in ACC (ZNRF3, DAXX, TERT and MED12), which we validated in an independent cohort of 77 ACCs.