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The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations. [PDF]
Cell GenomJana U +16 more
europepmc +1 more source
Resolving the roles of structural variants [PDF]
Nature Reviews Genetics, 2020 Structural variants have proved difficult to characterize using traditional sequencing approaches. In two new studies in Cell, the authors demonstrate the use of pan-genome approaches to identify and explore the impact of structural variants in crop genomes and reveal variants linked to specific agronomic traits.
Joseph A Willson
exaly +3 more sources
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AR Structural Variants and Prostate Cancer
2022Therapeutic interventions for advanced castration-resistant prostate cancer (CRPC) are focused on inhibiting the androgen receptor (AR) through targeting of its C-terminal ligand binding domain (LBD). However, a significant subset of CRPC patients demonstrate primary resistance to androgen deprivation and anti-androgen therapies, suggesting that other ...
Laura, Cato, Maysoun, Shomali
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2015
In this chapter, we will briefly touch on the historical discoveries of large abnormalities in the structure of the human genome. It is now clear that more subtle structural variants are in fact ubiquitous and key to understanding the spectrum of risk for many human diseases.
Menachem Fromer, Shaun Purcell
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In this chapter, we will briefly touch on the historical discoveries of large abnormalities in the structure of the human genome. It is now clear that more subtle structural variants are in fact ubiquitous and key to understanding the spectrum of risk for many human diseases.
Menachem Fromer, Shaun Purcell
openaire +1 more source
Strategy for Structural Characterization of Haemoglobin Variants
Acta Haematologica, 1987High-performance liquid chromatography allows one to perform effective and rapid separations on microquantities of material. The miniaturization of the techniques led to new approaches involving isoelectric focusing (IEF) of immobilized pH gradient IEF for haemoglobin preparation, successive enzymic hydrolyses for isolating abnormal peptides and amino ...
V, Baudin-Chich, J, Rochette, H, Wajcman
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Dysfunctional Variants and the Structural Biology of the Serpins
1997The development of our knowledge of the serpins illustrates the advantages of considering a protein superfamily as a whole. The serpins have all retained a common tertiary structure despite the individual evolution of diverse functions; for example, the homology of the plasma protease inhibitor α1-antitrypsin is closer to that of corticosteroid binding
R, Carrell +3 more
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Karyotype Variants A: Chromosome Structural Variants
1992A deficiency is the absence of a chromosome segment (of any size) that is present in the normal karyotype. An alternative term is deletion, which by some authors is used preferentially for the for the deficiency of a terminal segment of a chromosome.
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Origin of bovine IgM structural variants
Molecular Immunology, 2001The structure of IgM determined from two cDNAs isolated from a Holstein (BLV7G1) and an Angus x Hereford cross-bred (B5D8) cow reveals high sequence similarity both at nucleotide (98.7%) and amino acid (97.9%) level and is closest to sheep (89.4%).
S S, Saini, A, Kaushik
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Structural Parameterizations of Dominating Set Variants
2018We consider structural parameterizations of the fundamental dominating set problem and its variants in the parameter ecology program. We give improved fixed-parameter tractable (FPT) algorithms and lower bounds under well-known conjectures for dominating set in graphs that are k vertices away from a cluster graph or a split graph.
Dishant Goyal +4 more
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The structural proteins of Mengo virus variants
Virology, 1970Abstract Sodium dodecyl sulfate (SDS)-acrylamide gel electrophoresis of the solubilized proteins from purified, radioactively labeled virions of three variants of Mengo virus (L-, M-, and S-Mengo) revealed that each contains three major structural polypeptide components.
D J, O'Callaghan, T W, Mak, J S, Colter
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