Results 61 to 70 of about 129,319 (328)

Catastrophic chromosomal restructuring during genome elimination in plants. [PDF]

, 2015
Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered.
Bradnam, Keith R, Chan, Simon Wl, Comai, Luca, Henry, Isabelle M, Korf, Ian, Lysak, Martin A, Mandakova, Terezie, Marimuthu, Mohan Pa, Ravi, Maruthachalam, Tan, Ek Han   +9 more
core   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Pharmacokinetic/pharmacodynamic integration and modelling of oxytetracycline for the porcine pneumonia pathogens Actinobacillus pleuropneumoniae and Pasteurella multocida [PDF]

, 2017
Pharmacokinetic–pharmacodynamic (PK/PD) integration and modelling were used to predict dosage schedules of oxytetracycline for two pig pneumonia pathogens, Actinobacillus pleuropneumoniae and Pasteurella multocida.
Aliabadi, Aliabadi, Blondeau, Brentnall, Brentnall, Cadwell, Dorey, Honeyman, Illambas, Illambas, Jong, Lees, Lees, Lees, Lees, Martinez, Mouton, Mouton, Nielsen, Nielsen, Nightingale, Nouws, Nouws, Nyberg, Papich, Potter, Rey, Sidhu, Sidhu, Toutain, Toutain, Toutain, Toutain, Vilalta, Yoshimura   +34 more
core   +2 more sources

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

A Reappraisal of Ventilatory Thresholds in Wheelchair Athletes With a Spinal Cord Injury: Do They Really Exist?

Frontiers in Physiology, 2021
The ventilatory threshold (VT) separates low- from moderate-intensity exercise, the respiratory compensation point (RCP) moderate- from high-intensity exercise. Both concepts assume breakpoints in respiratory data. However, the objective determination of
Julia Kathrin Baumgart, Gertjan Ettema, Katy E. Griggs, Katy E. Griggs, Victoria Louise Goosey-Tolfrey, Christof Andreas Leicht   +5 more
doaj   +1 more source

Specific metaphase and interphase detection of the breakpoint region in 8q24 of burkitt lymphoma cells by triple-color fluorescence in situ hybridization [PDF]

, 1992
Triple fluorescence in situ hybridization with a plasmid DNA library from sorted human chromosomes 8 in combination with bacteriophage clones flanking the breakpoint in 8q24 of the Burkitt lymphoma cell line Jl was used for the specific delineation of ...
Anastasi, Arnoldus, Baldini, Bornkamm, Cremer, Cremer, Cremer, Cremer, Crescenzi, Devilee, Emmerich, Hartl, Heim, Henglein, Hopman, Hopman, Klobeck, Kolluri, Lee, Lengauer, Lengauer, Lichter, Lichter, Lichter, Maniatis, Manolov, Nederlof, Nederlof, Pinkel, Rappold, Tkachuk, Walt, Wiegant, Zech   +33 more
core   +1 more source

3D‐Printed Architected Material for the Generation of Foam‐Based Protective Equipment

Advanced Engineering Materials, EarlyView.
This study investigates 3D‐printed architected structures as alternatives to traditional foams in protective gear. It focuses on customizing impact strength and damping through design and manufacturing integration. Testing shows these structures outperform conventional foams, offering enhanced customizability, lower weight, and tunable performance ...
Ali Zolfagharian, Gerard Bel Català, Daniel Saakes, Bernard Rolfe, Ian Gibson, Mehrshad Mehrpouya   +5 more
wiley   +1 more source

Correlation of t(14;18) translocation breakpoint site with clinical characteristics in follicular lymphoma

Radiology and Oncology, 2023
t(14;18)(q32;q21) translocation is an important genetic feature of follicular lymphoma resulting in antiapoptotic B-cell lymphoma 2 (BCL2) protein overexpression. On chromosome 18 breakpoint-site variation is high but does not affect BCL2.
Panjan Matej, Boltezar Lucka, Novakovic Srdjan, Kokovic Ira, Jezersek Novakovic Barbara   +4 more
doaj   +1 more source

Tailoring the Properties of Functional Materials With N‐Oxides

Advanced Functional Materials, EarlyView.
The properties of materials bearing N‐oxide groups are often dominated by the polar N+─O− bond. It provides hydrophilicity, selective ion‐binding, electric conductivity, or antifouling properties. Many of the underlying mechanisms have only recently been discovered, and the interest in N‐oxide materials is rapidly growing.
Timo Friedrich, Michelle Kobus, Shirin Mesgarha, Erica Moretto, Laurens Grosche, Wolfgang Maison   +5 more
wiley   +1 more source

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

Frontiers in Genetics
IntroductionMucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in ARSB gene. Usually, whole exome sequencing (WES) can identify these variants, and if WES failed to detect causative ...
Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He   +10 more
doaj   +1 more source