Results 31 to 40 of about 48,752 (282)

Exome sequencing and arrayCGH detection of gene sequence and copy number variation between ILS and ISS mouse strains [PDF]

open access: yesMammalian Genome, 2014
It has been well documented that genetic factors can influence predisposition to develop alcoholism. While the underlying genomic changes may be of several types, two of the most common and disease associated are copy number variations (CNVs) and sequence alterations of protein coding regions.
Laura, Dumas   +6 more
openaire   +2 more sources

A non-homogeneous dynamic Bayesian network with sequentially coupled interaction parameters for applications in systems and synthetic biology [PDF]

open access: yes, 2012
An important and challenging problem in systems biology is the inference of gene regulatory networks from short non-stationary time series of transcriptional profiles.
Grzegorczyk, M., Husmeier, D.
core   +2 more sources

Inhibition of MAPK-Erk pathway in vivo attenuates aortic valve disease processes in Emilin1-deficient mouse model [PDF]

open access: yes, 2017
Aortic valve disease (AVD) is a common condition with a progressive natural history, and presently, there are no pharmacologic treatment strategies. Elastic fiber fragmentation (EFF) is a hallmark of AVD, and increasing evidence implicates developmental ...
Aikawa   +45 more
core   +2 more sources

Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort

open access: yesMolecular Genetics & Genomic Medicine, 2021
Objective We determined the yield, genetic spectrum, and actual origin of de novo mutations (DNMs) for infantile spasms (ISs) in a Chinese cohort. The efficacy of levetiracetam (LEV) for STXBP1‐related ISs was explored also.
Liying Liu   +12 more
doaj   +1 more source

The intra-class heterogeneity of immunophenotyping and immune landscape in oesophageal cancer and clinical implications

open access: yesAnnals of Medicine, 2021
Background The response rate and survival benefit of immunotherapy vary among patients, implying specific immune status of an individual could be associated with the effect of immunotherapy.
Yujie Xie   +6 more
doaj   +1 more source

Expand+Functional selection and systematic analysis of intronic splicing elements identify active sequence motifs and associated splicing factors [PDF]

open access: yes, 2010
Despite the critical role of pre-mRNA splicing in generating proteomic diversity and regulating gene expression, the sequence composition and function of intronic splicing regulatory elements (ISREs) have not been well elucidated.
Berglund, J. Andrew   +4 more
core   +4 more sources

Interspecies DNA acquisition by a naturally competent Acinetobacter baumannii strain [PDF]

open access: yes, 2019
The human pathogen Acinetobacter baumannii possesses high genetic plasticity and frequently acquires antimicrobial resistance genes. Here we investigated the role of natural transformation in these processes. Genomic DNA from different sources, including
Bahiense, Camila dos Santos   +12 more
core   +1 more source

Occurrence of pathogenic and faecal Escherichia coli in layer hens

open access: yesItalian Journal of Animal Science, 2010
A total of 117 Escherichia coli from colibacillosis affected (APEC) and clinically healthy birds (AFEC) were serotyped and tested for the presence of virulence genes: iss, tsh, cva. A total of 54.5% E.
Silvia Tagliabue   +6 more
doaj   +1 more source

Idiopathic Short Stature: What to Expect from Genomic Investigations

open access: yesEndocrines, 2023
Short stature is a common concern for physicians caring for children. In traditional investigations, about 70% of children are healthy, without producing clinical and laboratory findings that justify their growth disorder, being classified as having ...
Nathalia Liberatoscioli Menezes Andrade   +4 more
doaj   +1 more source

Methylobacterium ajmalii sp. nov., Isolated From the International Space Station

open access: yesFrontiers in Microbiology, 2021
Four strains belonging to the family of Methylobacteriaceae were isolated from different locations on the International Space Station (ISS) across two consecutive flights.
Swati Bijlani   +6 more
doaj   +1 more source

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