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Rare Structural Variants

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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Strategy for Structural Characterization of Haemoglobin Variants

Acta Haematologica, 2009
High-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 iso-electric focusing (IEF) of immobilized pH gradient IEF for haemoglobin preparation, successive enzymic hy-drolyses for isolating abnormal peptides and ...
V, Baudin-Chich, J, Rochette, H, Wajcman
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Karyotype Variants A: Chromosome Structural Variants

1992
A 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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AR Structural Variants and Prostate Cancer

2022
Therapeutic 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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Origin of bovine IgM structural variants

Molecular Immunology, 2001
The 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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Dysfunctional Variants and the Structural Biology of the Serpins

1997
The 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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Structural Variant Breakpoint Detection with novoBreak

2018
Structural variations (SVs) are an important type of genomic variants and always play a critical role for cancer development and progression. In the cancer genomics era, detecting structural variations from short sequencing data is still challenging. We developed a novel algorithm, novoBreak (Chong et al. Nat Methods 14:65-67, 2017), which achieved the
Zechen, Chong, Ken, Chen
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The structural proteins of Mengo virus variants

Virology, 1970
Abstract 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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Structural Parameterizations of Dominating Set Variants

2018
We 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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Structural Variants of Human and Murine Immunoglobulins

1975
Much of the current knowledge of immunoglobulin structure and function has been derived from studies of the homogeneous proteins produced by patients with neoplasms of plasma cells and lymphocytes. These proteins are antigenically and chemically closely related to the normal immunoglobulins and there is now little doubt that most of the homogeneous ...
E C, Franklin, B, Frangione
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