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