Results 81 to 90 of about 1,761,052 (374)
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.
Stephen W. Scherer +2 more
openaire +3 more sources
Copy Number Variations in Neuropsychiatric Disorders
International Journal of Molecular Sciences, 2023 Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological advances in recent years have improved our understanding of the genetic architecture of the major neuropsychiatric disorders and the genetic loci involved.
Gergely Büki +2 more
openaire +2 more sources
Population Ecology, EarlyView.Population size and dynamics fundamentally shape speciation by influencing genetic drift, founder events, and adaptive potential. Small populations may speciate rapidly due to stronger drift, whereas large populations harbor more genetic diversity, which can alter divergence trajectories. We highlight theoretical models that incorporate population size
Ryo Yamaguchi +3 more
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
Evolutionary interplay between viruses and R‐loops
FEBS Letters, EarlyView.Viruses interact with specialized nucleic acid structures called R‐loops to influence host transcription, epigenetic states, latency, and immune evasion. This Perspective examines the roles of R‐loops in viral replication, integration, and silencing, and how viruses co‐opt or avoid these structures.
Zsolt Karányi +4 more
wiley +1 more source
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
The significance of copy number variations in schizophrenia [PDF]
British Journal of Psychiatry, 2014 Rees et al [1][1] seek to replicate the association with schizophrenia of copy number variants (CNVs) involving putative schizophrenia loci in a large case-control study. They conclude that 11 of the 15 previously implicated loci were strongly associated with schizophrenia.
openaire +4 more sources
Circulating histones as clinical biomarkers in critically ill conditions
FEBS Letters, EarlyView.Circulating histones are emerging as promising biomarkers in critical illness due to their diagnostic, prognostic, and therapeutic potential. Detection methods such as ELISA and mass spectrometry provide reliable approaches for quantifying histone levels in plasma samples.
José Luis García‐Gimenez +17 more
wiley +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
A large data resource of genomic copy number variation across neurodevelopmental disorders
npj Genomic Medicine, 2019 Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CNV ...
M. Zarrei +59 more
semanticscholar +1 more source