We provide evidence of a physical and functional interaction between the products of these two genes, which are mutated in two distinct renal ciliopathies, polycystic kidney disease and nephronophthisis, supporting the notion that the molecular mechanism underlying cyst formation shares common pathogenetic dysfunctions in different diseases.
These findings suggest that amino acid residues in DKC1 critical for transcription are likely largely distinct from those mutated in DC patients.
By extension, one could argue that although activation of oncogenic signaling is a common end, the tendency to mutate EGFR in distinct ways is reflective of the tumor's preference for specific downstream signaling pathways, such as Ras/MAPK versus PI3K/AKT [50], [50].
Surprisingly, the most frequently mutated genes in CRC, APC and TP53, were not recurrently mutated in the 10 MNAs analyzed, suggesting distinct oncogenic processes.
Although TNNT2 is commonly mutated in HCM, surprisingly, it has been found that distinct TNNT2 mutations also lead to DCM [2].
More recently, the relevance of previous molecular findings has been further reduced by the separation of patients mutated in TNXB, who are now grouped under a distinct EDS subtype (i.e., TNXB-deficient EDS) [ 7].
This is mutated in 6 15% of tumours across multiple independent cohorts, and may define a distinct molecular subclass of ETS-negative prostate cancer (Barbieri et al, 2012; Grasso et al, 2012).
Although FTIs are ineffective against K-Ras4B, the Ras isoform most commonly mutated in human cancers, they can inhibit the growth of tumors containing oncogenic K-Ras4B, implicating other farnesylated proteins or suggesting distinct functions for farnesylated and for geranylgeranylated K-Ras, which is generated when farnesyltransferase is inhibited.
Components of the spliceosome are frequently mutated in haematopoietic malignancies.
We first generated lists of genes recurrently mutated in cancer.
