Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat. Genet. 13, 485–488 (1996). Article CAS PubMed Google Scholar Leipold, E. et al. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat. Genet. ...
The Cancer Genome Atlas (TCGA) has used the latest sequencing and analysis methods to identify somatic variants across thousands of tumours. Here we present data and analytical results for point mutations and small insertions/deletions from 3,281 tumours
Signal transducer and activator of transcription (STAT3) is an important transcription factorcapable of mediating or even driving cancer progression through hyperactivation or gain-offunctionmutations. It plays a key role in regulating host immune and inflammatory responses and inthe pathogenesis of many ...
Pathogenic mutations that cause Mendelian diseases are known to function through various biological mechanisms and thus have been categorized and studied in different aspects. For instance, exonic mutations based on the protein sequence alterations are categorized into synonymous, missense, stop-gain, stop...
These translocations result in the production of gain-of-function chimeras composed of an amino-terminus MLL lacking the SET domain fused in frame with another protein coding gene. In all cases, the resulting MLL fusion oncoprotein acts as a strong transcriptional activator that disrupts the normal...
It’s important to point out that if you use mutable objects as the value of an immutable class like the above, then you won’t be able to prevent mutations on that value: Python >>> fruits = Immutable(["apple", "orange", "banana"]) >>> fruits.value ['apple', 'orange', 'ban...
We observed that nearly 60% of all tumors in TCGA have mutations or copy number alterations in at least one of 38 core pathway genes (Sanchez-Vega et al. 2018). We applied our approach to detect Ras pathway activation using KRAS, HRAS, and NRAS gain of function mutations and copy number...
It is due to premature maturation of the HPG axis. CPP may occur as genetic alterations, such as MKRN3, DLK1, or KISS1; as a part of mutations in the epigenetic factors that regulate the HPG axis, such as Lin28b and let-7; or as a part of syndromes, central lesions such as ...
Diabetes induced by gain-of- function mutations in the Kir6.1 subunit of the KATP channel. J Gen Physiol 2017; 149: 75–84. 148 Benarroch EE. Sulfonylurea receptor-associated channels: involvement in disease and therapeutic implications. Neurology 2017; 88: 314–21. 149 de Wet H, Proks P....
For the gain of function approach (right) the TATA- and/or CCAAT-box motifs from the 10 selected promoters were inserted into 18 randomly picked neutral sequences. Each sequence variant is present in the library 5 times, coupled to a different 10bp long barcode at the 3’ end. b, ...