Results 71 to 80 of about 1,217,732 (304)
The newfound relationship between extrachromosomal DNAs and excised signal circles
FEBS Letters, EarlyView.Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
İstanbul Tıp Fakültesi Dergisi, 2021 Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir +5 more
doaj +1 more source
DNA Copy Number Variation in Autism [PDF]
, 2009 Autism is a childhood neurodevelopmental and psychiatric disorder that involves the impairment of social skills and communication. The genetics behind the inheritance and susceptibility of this disorder are not well known but have recently been studied ...
Adur, Ashwin
core
Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity [PDF]
, 2017 Background Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on ...
Armour, John A.L. +2 more
core +3 more sources
FEBS Letters, EarlyView.This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva +5 more
wiley +1 more source
STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods [PDF]
, 2017 The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis.
Cornelis, Senne +5 more
core +2 more sources
In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS
FEBS Letters, EarlyView.We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka +11 more
wiley +1 more source
Genetic copy number variation and general cognitive ability.
PLoS ONE, 2012 Differences in genomic structure between individuals are ubiquitous features of human genetic variation. Specific copy number variants (CNVs) have been associated with susceptibility to numerous complex psychiatric disorders, including attention-deficit ...
Andrew K MacLeod +20 more
doaj +1 more source
MONTAGE: a new tool for high-throughput detection of mosaic copy number variation
BMC Genomics, 2021 Background Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain genomic segments exists within the same individual.
Joseph T. Glessner +7 more
doaj +1 more source
Identification of CNVs and their association with the meat traits of Hanwoo
Journal of Animal Reproduction and Biotechnology, 2023 Background: Copy number variation (CNV) can be identified using next-generation sequencing and microarray technologies, the research on the analysis of its association with meat traits in livestock breeding has significantly increased in recent years ...
Chan Mi Bang +4 more
doaj +1 more source