Genetic alterations of TRAF proteins in human cancers

S Zhu, J Jin, S Gokhale, AM Lu, H Shan… - Frontiers in …, 2018 - frontiersin.org
The tumor necrosis factor receptor (TNF-R)-associated factor (TRAF) family of cytoplasmic
adaptor proteins regulate the signal transduction pathways of a variety of receptors …

Distribution of copy number variations and rearrangement endpoints in human cancers with a review of literature

G Mirzaei, RC Petreaca - Mutation Research/Fundamental and Molecular …, 2022 - Elsevier
Copy number variations (CNVs) which include deletions, duplications, inversions,
translocations, and other forms of chromosomal re-arrangements are common to human …

Identifying structural variants using linked-read sequencing data

R Elyanow, HT Wu, BJ Raphael - Bioinformatics, 2018 - academic.oup.com
Motivation Structural variation, including large deletions, duplications, inversions,
translocations and other rearrangements, is common in human and cancer genomes. A …

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

A Mensa-Vilaró, MB García-Morato… - Journal of Allergy and …, 2019 - Elsevier
Background Postzygotic de novo mutations lead to the phenomenon of gene mosaicism.
The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in …

Gene copy-number polymorphism caused by retrotransposition in humans

DR Schrider, FCP Navarro, PAF Galante… - PLoS …, 2013 - journals.plos.org
The era of whole-genome sequencing has revealed that gene copy-number changes
caused by duplication and deletion events have important evolutionary, functional, and …

nFuse: discovery of complex genomic rearrangements in cancer using high-throughput sequencing

A McPherson, C Wu, AW Wyatt, S Shah… - Genome …, 2012 - genome.cshlp.org
Complex genomic rearrangements (CGRs) are emerging as a new feature of cancer
genomes. CGRs are characterized by multiple genomic breakpoints and thus have the …

Protein domain-level landscape of cancer-type-specific somatic mutations

F Yang, E Petsalaki, T Rolland, DE Hill… - PLoS computational …, 2015 - journals.plos.org
Identifying driver mutations and their functional consequences is critical to our
understanding of cancer. Towards this goal, and because domains are the functional units of …

Modulation of HJURP (Holliday Junction-Recognizing Protein) levels is correlated with glioblastoma cells survival

V Valente, RB Serafim, LC de Oliveira, FS Adorni… - PLoS …, 2013 - journals.plos.org
Background Diffuse astrocytomas are the most common type of primary brain cancer in
adults. They present a wide variation in differentiation and aggressiveness, being classified …

SQUID: transcriptomic structural variation detection from RNA-seq

C Ma, M Shao, C Kingsford - Genome biology, 2018 - Springer
Transcripts are frequently modified by structural variations, which lead to fused transcripts of
either multiple genes, known as a fusion gene, or a gene and a previously non-transcribed …

Alternative polyadenylation allows differential negative feedback of human miRNA miR-579 on its host gene ZFR

LC Hinske, PAF Galante, E Limbeck, P Möhnle… - PloS one, 2015 - journals.plos.org
About half of the known miRNA genes are located within protein-coding host genes, and are
thus subject to co-transcription. Accumulating data indicate that this coupling may be an …