Results 141 to 150 of about 1,251,136 (266)

Tissue-specific gene dosage disruption is a key feature and pathogenic mechanism of structural variants in the human genome. [PDF]

Genome Med
Liu X, Chen Z, Jiang Q, Shen H, Liu H, Wang Z, Li Z, Wu J, Jiang H, Li X.   +9 more
europepmc   +1 more source

Directed evolution of enzymes at the crossroads of tradition and innovation

FEBS Open Bio, EarlyView.
An iterative cycle of data‐driven enzyme optimization comprising four stages: genetic diversification of a template enzyme, expression of protein variants, high‐throughput evaluation, and machine‐learning‐guided redesign of the next variant library.
Maria Tomkova, Andrej Mirossay, Erik Sedlak   +2 more
wiley   +1 more source

Bringing our genomes to medicine - the 2026 human genome meeting. [PDF]

Hum Genomics
Patrinos GP, Reichardt JKV, Carninci P, Hamosh A, Mitropoulou C, Vasiliou V.   +5 more
europepmc   +1 more source

The human genome and medicine

Anales de Pediatría (English Edition), 2018
Francesc Palau, Alfredo García-Alix
openaire   +3 more sources

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source

The precision strategy of human genome correction via a set of circular donor DNA and its cleaver. [PDF]

Front Genome Ed
Kusano K, Takizawa K, Kawaguchi J, Hara I, Mori T.   +4 more
europepmc   +1 more source

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

FEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard, Emma‐Jayne Proctor, Jiawa Wang, Nikolas P. Johnston, Andrew Hayes, Georgia McCorkell, Haibo Yu, Jai Tree, Mark R. Davies, Mark J. Walker, Ronald Sluyter, Stephan Brouwer, Martina L. Sanderson‐Smith   +12 more
wiley   +1 more source

Learning a pairwise epigenomic and transcription factor binding association score across the human genome. [PDF]

Bioinformatics
Kwon SB, Ernst J.
europepmc   +1 more source

Transcripts enriched in codons that trigger P‐site tRNA‐mediated mRNA decay possess stable mRNA

FEBS Open Bio, EarlyView.
PTMD codons were first described by Mendel et al. as mediators of an mRNA decay pathway dependent on the human protein CNOT3, homologous to yeast Not5. Our findings confirm that PTMD codons destabilize transcripts; however, unlike in yeast, the human pathway specifically targets and slightly destabilizes primarily stable mRNAs.
Rodolfo Lopes Carneiro, Fernando Lucas Palhano   +1 more
wiley   +1 more source

Challenges in visualizing endogenous <i>loci</i> in the human genome using CRISPR-based imaging systems. [PDF]

BioTechnologia (Pozn)
Nowaczyk M, Kuczynski K, Przybył Ł, Olejniczak M.   +3 more
europepmc   +1 more source