Results 81 to 90 of about 968,335 (302)
Copy Number Variation in Tourette Syndrome [PDF]
Neuron, 2017 In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
Anne S, Bassett, Stephen W, Scherer
openaire +2 more sources
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
Variations of genes copy number in populations of Bluetongue-virus [PDF]
, 2018 Viruses have the largest diversity of genome architectures. Among them, segmented viruses possess a genome divided in several chromosomes or segments, encapsidated together.
Breard, Emmanuel +4 more
core
An initial comparative map of copy number variations in the goat (Capra hircus) genome [PDF]
, 2010 Background: The goat (Capra hircus) represents one of the most important farm animal species. It is reared in all continents with an estimated world population of about 800 million of animals.
Luca Fontanesi +8 more
core +5 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
Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies
Orphanet Journal of Rare Diseases, 2021 Background To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis of WNT4 by Multiplex ligation ...
Ying Zhu +6 more
doaj +1 more source
Mosaic copy number variation in schizophrenia [PDF]
European Journal of Human Genetics, 2013 Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single ...
Douglas M, Ruderfer +20 more
openaire +2 more sources
This Is Not a Myeloproliferative Neoplasm…
Pediatric Blood &Cancer, EarlyView.
Stephanie Juané Kennedy
wiley +1 more source
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
Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell [PDF]
, 2013 Kindred cells can have different genomes because of dynamic changes in DNA. Single cell sequencing is needed to characterize these genomic differences but has been hindered by whole-genome amplification bias, resulting in low genome coverage.
Chapman, Alec Randolph +2 more
core +1 more source