Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
Genome-wide identification and expression analysis of NBS-encoding genes in Malus x domestica and expansion of NBS genes family in Rosaceae. [PDF]
Nucleotide binding site leucine-rich repeats (NBS-LRR) disease resistance proteins play an important role in plant defense against pathogen attack. A number of recent studies have been carried out to identify and characterize NBS-LRR gene families in ...
Preeti Arya +3 more
doaj +1 more source
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain +10 more
wiley +1 more source
Gene Duplication and Subsequent Differentiation of Esterases in Cactophilic Drosophila Species [PDF]
Univ Estadual Ctr Oeste UNICTR, Chopinzinho, PR, BrazilUniv Estadual Paulista UNESP, Inst Biociencias Letras & Ciencias Exatas IBILCE, Sao Paulo, BrazilUniv Estadual Paulista UNESP, Inst Biociencias Letras & Ciencias Exatas IBILCE, Sao Paulo ...
Friedberg, F. +3 more
core
Duplication of centromeric histone H3 (HTR12) gene in Arabidopsis halleri and A-lyrata, plant species with multiple centromeric satellite sequences [PDF]
Arabidopsis halleri and lyrata have three different major centromeric satellite sequences, a unique finding for a diploid Arabidopsis species. Since centromeric histones coevolve with centromeric satellites, these proteins would be predicted to show ...
A. Kawabe +5 more
core +1 more source
Interrogation of alternative splicing events in duplicated genes during evolution
Background Gene duplication provides resources for developing novel genes and new functions while retaining the original functions. In addition, alternative splicing could increase the complexity of expression at the transcriptome and proteome level ...
Chen Ting-Wen +3 more
doaj +1 more source
The glutathione S-transferases (GST) genes are a multigene family of enzymes involved in the metabolism of endogenous and xenobiotic compounds by catalysing the conjugation of the reduced form of glutathione to the substrate.
Cherry L. Dykes +6 more
doaj +1 more source
Gene Duplication and Ectopic Gene Conversion in Drosophila [PDF]
The evolutionary impact of gene duplication events has been a theme of Drosophila genetics dating back to the Morgan School. While considerable attention has been placed on the genetic novelties that duplicates are capable of introducing, and the role that positive selection plays in their early stages of duplicate evolution, much less attention has ...
J. Roman Arguello, Tim Connallon
openaire +2 more sources
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena +15 more
wiley +1 more source
Evolution of ancient functions in the vertebrate insulin-like growth factor system uncovered by study of duplicated salmonid fish genomes [PDF]
This work was supported by the Marine Alliance for Science and Technology for Scotland pooling initiative, funded by the Scottish Funding Council (grant number HR09011) and contributing institutions.Whole genome duplication (WGD) was experienced twice by
Macqueen, Daniel J +6 more
core +1 more source

