Article

Investigating structure function relationships in the NOTCH family through large-scale somatic DNA sequencing studies

2020-04-01

Abstract excerpt

The recent development of highly sensitive DNA sequencing techniques has detected large numbers of missense mutations of genes, including NOTCH1 and 2, in ageing normal tissues. Driver mutations persist and propagate in the tissue through a selective advantage over both wild-type cells and alternative mutations. This process of selection can be considered as a large scale, in vivo screen for mutations that increa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 85400010-f41e-5f79-8828-392f51f02531
DOI: 10.1101/2020.03.31.018325

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Investigating structure function relationships in the NOTCH family through large-scale somatic DNA sequencing studiesDOI 10.1101/2020.03.31.018325Read

Mutations observed in somatic evolution reveal underlying gene mechanisms.Semantic proximity Read

Functional Studies of Genetic Variants Associated with Human Diseases in Notch Signaling-Related Genes Using Drosophila.Semantic proximity Read

Unveiling the evolutionary code of NOTCH3: mammalian bioinformatics sheds light on human pathogenicity.Semantic proximity Read

Modeling recent human evolution in mice by expression of a selected EDAR variant.Semantic proximity Read

Extreme Conservation and Rare Evolutionary Deviations in Mammalian NOTCH3 Challenge Current Models of CADASIL PathogenicitySemantic proximity Read

Structural and functional dissection of the interplay between lipid and Notch binding by human Notch ligandsSemantic proximity Read

A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands.Semantic proximity Read

Key residues involved in calcium-binding motifs in EGF-like domains.Semantic proximity Read

Structural and functional dissection of the interplay between lipid and Notch binding by human Notch ligandsSemantic proximity Read

In silico analysis of detrimental mutation in EPHB2 gene causing Alzheimer’s diseaseSemantic proximity Read

Notch-Jagged signaling complex defined by an interaction mosaic.Semantic proximity Read

Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein LevelsSemantic proximity Read