Results 71 to 80 of about 11,000,947 (301)

RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION

open access: yesİstanbul 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

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

open access: yesFEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa   +2 more
wiley   +1 more source

Amaranthus palmeri EPSPS copy number and glyphosate resistance variation

open access: yes, 2021
Gene copy number variation (CNV) has been increasingly associated with organismal responses to environmental stress, but we know little about the quantitative relation between CNV and phenotypic variation.
B., Sarah
core   +1 more source

Copy number variation in Parkinson's disease [PDF]

open access: yesGenome Medicine, 2010
A central theme of human genetic studies is to understand genomic variation and how this underlies the inherited basis of disease. Genomic variation can provide increased biological understanding of disease processes, which is necessary to develop future treatments.
Toft, Mathias, Ross, Owen A
openaire   +2 more sources

Copy number variation in bipolar disorder. [PDF]

open access: yes
This study has provided one of the first glimpses of the possible involvement of copy number variation in the susceptibility to bipolar ...
Grozeva, Detelina
core   +6 more sources

Elusive copy number variation in the mouse genome.

open access: yesPLoS ONE, 2010
BackgroundArray comparative genomic hybridization (aCGH) to detect copy number variants (CNVs) in mammalian genomes has led to a growing awareness of the potential importance of this category of sequence variation as a cause of phenotypic variation.
Avigail Agam   +7 more
doaj   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

open access: yesFEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee   +7 more
wiley   +1 more source

Identification of CNVs and their association with the meat traits of Hanwoo

open access: yesJournal 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

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

open access: yesFEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

Bayesian nonparametric hidden Markov models with application to the analysis of copy-number-variation in mammalian genomes [PDF]

open access: yes, 2009
We consider the development of Bayesian Nonparametric methods for product partition models such as Hidden Markov Models and change point models.
Yau, C.   +3 more
core  

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