Characterizing HDAC Pathway Copy Number Variation in Pan-Cancer
Pathology and Oncology Research, 2022 Background: Histone deacetylase (HDAC) plays a crucial role in regulating the expression and activity of a variety of genes associated with tumor progression and immunotherapeutic processes.
Shuming Yang +6 more
doaj +1 more source
Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]
, 2020 Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena +6 more
core +2 more sources
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Nature Genetics, 2018 We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations.
Bradley P. Coe +10 more
semanticscholar +1 more source
New Copy Number Variations in Schizophrenia
PLoS ONE, 2010 Genome-wide screenings for copy number variations (CNVs) in patients with schizophrenia have demonstrated the presence of several CNVs that increase the risk of developing the disease and a growing number of large rare CNVs; the contribution of these rare CNVs to schizophrenia remains unknown.
MAGRI, Chiara +8 more
openaire +6 more sources
Frequent expansion of Plasmodium vivax Duffy Binding Protein in Ethiopia and its epidemiological significance. [PDF]
, 2019 Plasmodium vivax invasion of human erythrocytes depends on the Duffy Binding Protein (PvDBP) which interacts with the Duffy antigen. PvDBP copy number has been recently shown to vary between P. vivax isolates in Sub-Saharan Africa. However, the extent of
Ford, Anthony +11 more
core +2 more sources
Genome wide landscaping of copy number variations for horse inter-breed variability
Animal BiotechnologyCopy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, namely, Manipuri, Zanskari, Bhutia ...
Nitesh Kumar Sharma +12 more
doaj +1 more source
Adaptive genomic structural variation in the grape powdery mildew pathogen, Erysiphe necator. [PDF]
, 2014 BackgroundPowdery mildew, caused by the obligate biotrophic fungus Erysiphe necator, is an economically important disease of grapevines worldwide. Large quantities of fungicides are used for its control, accelerating the incidence of fungicide-resistance.
Amrine, Katherine CH +7 more
core +2 more sources
Copy number variation is highly correlated with differential gene expression: a pan-cancer study
BMC Medical Genetics, 2019 BackgroundCancer is a heterogeneous disease with many genetic variations. Lines of evidence have shown copy number variations (CNVs) of certain genes are involved in development and progression of many cancers through the alterations of their gene ...
Xin Shao +7 more
semanticscholar +1 more source
Noise cancellation using total variation for copy number variation detection
BMC Bioinformatics, 2018 Background Due to recent advances in sequencing technologies, sequence-based analysis has been widely applied to detecting copy number variations (CNVs).
Fatima Zare +2 more
doaj +1 more source
Frontiers in Endocrinology, 2023 IntroductionEmbryonic chromosomal abnormalities represent a major causative factor in early pregnancy loss, highlighting the importance of understanding their role in spontaneous abortion.
Wei Bai +6 more
doaj +1 more source