Results 81 to 90 of about 884,084 (316)
, 2021 Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare.
Rigter, T. +4 more
core +1 more source
Personalized and graph genomes reveal missing signal in epigenomic data
Genome Biology, 2020 Background Epigenomic studies that use next generation sequencing experiments typically rely on the alignment of reads to a reference sequence. However, because of genetic diversity and the diploid nature of the human genome, we hypothesize that using a ...
Cristian Groza +4 more
doaj +1 more source
Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system
FEBS 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
FEBS 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
Diversity and complexity in neural organoids
FEBS 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
International Medical Case Reports JournalFrancesco Libotte,* Katia Margiotti,* Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino Human Genetics Lab, Altamedica Main Centre, Rome, 00198, Italy*These authors contributed equally to this workCorrespondence: Katia Margiotti,
Libotte F +4 more
doaj
Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation
FEBS 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
, 2016 Homozygosity caused by consanguineous union has long been associated with an increased prevalence of rare Mendelian disorders. In contrast, the role of homozygosity in relation to quantitative traits and complex disease suscep- tibility is less well ...
Joshi, P. K. +3 more
core
A comparative study of endoderm differentiation in humans and chimpanzees
Genome Biology, 2018 Background There is substantial interest in the evolutionary forces that shaped the regulatory framework in early human development. Progress in this area has been slow because it is difficult to obtain relevant biological samples.
Lauren E. Blake +7 more
doaj +1 more source
The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes
FEBS Letters, EarlyView.Upon lysosomal rupture, an E3 ubiquitin ligase RNF115 translocates from the cytosol to the damaged lysosomal membrane. Moreover, RNF115 depletion impairs the clearance of damaged lysosomes, identifying it as a key regulator of lysosomal quality control.
Sae Nakanaga +3 more
wiley +1 more source