Results 81 to 90 of about 753,352 (304)

Tau acetylation at K331 has limited impact on tau pathology in vivo

open access: yesFEBS 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

LANDMARKS IN MEDICAL GENETICS: CLASSIC ARTICLES WITH COMMENTARIES

open access: yes, 2004
Introduction -- Pt. I. Classic descriptions of inherited disease -- Ch. 1. Huntington's disease -- On chorea (1872) / George Huntington -- Ch. 2. Hemophilia -- Account of a remarkable hemorrhagic disposition existing in many individuals of the same ...
Harper, Peter S., ed.
core  

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

open access: yesFEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

open access: yesFEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura   +2 more
wiley   +1 more source

First-year students’ perceptions of team-based learning in a new medical genetics course

open access: yesRevista Brasileira de Educação Médica, 2019
Background Medical education has evolved considerably over the last few years, especially through adoption of new technologies and active methodologies. These methodologies aim to improve learning and engage students deeply in the process.
Vinicius Canato Santana   +2 more
doaj   +1 more source

Diversity and complexity in neural organoids

open access: yesFEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

What is Magi?

open access: yesThe EuroBiotech Journal, 2017
MAGI is concerned with research and diagnosis of rare genetic diseases. It has been operating since 2006 in Italy and abroad. Today it has three centers in Italy, including a medical genetics laboratory specialized in next generation sequencing in ...
Manara Elena   +2 more
doaj   +1 more source

Die gesondheidsvoorligtingsfunksie van die verpleegkundige met betrekking tot mensgenetika

open access: yesCurationis, 1981
The nurse, as a key person in health services, has an essential role in health education regarding human and medical genetics. This education is given at both community and individual level.
Frieda Paton
doaj   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

open access: yesFEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz   +11 more
wiley   +1 more source

Home testing for COVID-19: lessons from direct to consumer genetics

open access: yes, 2020
This article is made available for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source.
Halverson, Colin, Wilson, Theodore E.
core   +1 more source

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