Results 171 to 180 of about 528,283 (301)

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

Novel <i>VRK1</i> Variants and a Founder Effect in Axonal Polyneuropathy. [PDF]

Neurol Genet
Xu K, Zeng S, Li X, Li Z, Liu Y, Wang M, Xie Y, Liu L, Cao W, Huang S, Zhao H, Tang B, Zhang R.   +12 more
europepmc   +1 more source

A Founder Effect Led Early SARS-CoV-2 Transmission in Spain. [PDF]

J Virol, 2021
Díez-Fuertes F, Iglesias-Caballero M, García-Pérez J, Monzón S, Jiménez P, Varona S, Cuesta I, Zaballos Á, Jiménez M, Checa L, Pozo F, Pérez-Olmeda M, Thomson MM, Alcamí J, Casas I.   +14 more
europepmc   +1 more source

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, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Rare variants and founder effect in the Beauce region of Quebec. [PDF]

Commun Biol
Gagnon M, Moreau C, Ricard J, Boisvert MC, Bureau A, Maziade M, Girard SL.   +6 more
europepmc   +1 more source

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1. [PDF]

Eur J Hum Genet, 2021
Yeetong P, Chunharas C, Pongpanich M, Bennett MF, Srichomthong C, Pasutharnchat N, Suphapeetiporn K, Bahlo M, Shotelersuk V.   +8 more
europepmc   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect. [PDF]

Hum Mol Genet, 2022
Lemmers RJLF, van der Vliet PJ, Granado DSL, van der Stoep N, Buermans H, van Schendel R, Schimmel J, de Visser M, van Coster R, Jeanpierre M, Laforet P, Upadhyaya M, van Engelen B, Sacconi S, Tawil R, Voermans NC, Rogers M, van der Maarel SM.   +17 more
europepmc   +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, Toshiki Takahashi, Akiko Kuma, Hiroyuki Kawahara   +3 more
wiley   +1 more source

A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China. [PDF]

Biol Sex Differ
Lei X, Zhou X, Cheng Z, Zhao S, Gui C, Ma Y, Shi M, Wei X, Xie B, Fan X, Chen S, Tao Q, Su Y, Yuan D, Gui B.   +14 more
europepmc   +1 more source