Results 61 to 70 of about 58,203 (304)
Tau acetylation at K331 has limited impact on tau pathology in vivo
FEBS Letters, EarlyView.We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto +3 more
wiley +1 more source
Frontiers in ImmunologyObjectiveIn a cooperative study of the University Hospital Leipzig, University of Leipzig, and the Charité Berlin on kidney transplant patients, we analysed the occurrence of HLA-specific antibodies with respect to the HLA setup of the patients. We aimed
Henry Loeffler-Wirth +3 more
doaj +1 more source
FEBS Letters, EarlyView.Drosophila park mutants serve as a model for Parkinson's disease. We used this strain to investigate the connection between oxidative stress and the circadian clock mechanism. We showed that increased oxidative stress affects the physiology of pacemaker cells, disrupting their daily structural plasticity. Lack of rhythmic signaling from pacemaker cells
Kamila Zientara +3 more
wiley +1 more source
, 2012 Mean homozygosity of SNPs in a sliding window (200-kb window at 100-kb steps) was plotted versus the location on 2L (A), 2R (B), 3L (C), 3R (D) and X (E) chromosomes.
Atsushi Toyoda (24202) +8 more
core +1 more source
Molecular Oncology, EarlyView.EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain +10 more
wiley +1 more source
Clonal analyses reveal associations of JAK2V617F homozygosity with hematologic features, age and gender in polycythemia vera and essential thrombocythemia [PDF]
, 2013 Subclones homozygous for JAK2V617F are more common and larger in patients with polycythemia vera compared to essential thrombocythemia, but their role in determining phenotype remains unclear.
Chen, Edwin +11 more
core +1 more source
Interpreting the effects of DNA polymerase variants at the structural level
Molecular Oncology, EarlyView.Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source
Increased individual homozygosity is correlated with low fitness in a fragmented lizard population
, 2019 Isolation owing to anthropogenic habitat fragmentation is expected to increase the homozygosity of individuals, which might reduce their fitness as a result of inbreeding depression.
Bloor, Paul +6 more
core +1 more source
Management of Genetic Diversity in the Era of Genomics
Frontiers in Genetics, 2020 Management of genetic diversity aims to (i) maintain heterozygosity, which ameliorates inbreeding depression and loss of genetic variation at loci that may become of importance in the future; and (ii) avoid genetic drift, which prevents deleterious ...
Theo H. E. Meuwissen +3 more
doaj +1 more source
FEBS Open Bio, EarlyView.Cytosolically synthesized chloroplast preproteins are translocated across the outer and inner envelope membranes through translocons called TOC and TIC, respectively. In green algae and plants, the TIC core is composed of essential membrane proteins, Tic12, Tic20, and Tic214.
Mengyi Li, Xueyang Zhao, Masato Nakai
wiley +1 more source