Results 191 to 200 of about 502,320 (296)

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant. [PDF]

Nucleic Acids Res
Lemée MV, Loviglio MN, Ye T, Tilly P, Keime C, Weber C, Petrova A, Klein P, Morlet B, Wendling O, Jacobs H, Tharreau M, Geneviève D, Godin JD, Romier C, Duteil D, Golzio C.   +16 more
europepmc   +1 more source

Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis

FEBS Open Bio, EarlyView.
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho, Rebecca Schmitt, Aneesha Dasgupta, Alexandra Ducharme, Jason Doles   +4 more
wiley   +1 more source

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. [PDF]

NPJ Genom Med
Hahn E, Dharmadhikari AV, Markowitz AL, Estrine D, Quindipan C, Maggo SDS, Sharma A, Lee B, Maglinte DT, Shams S, Deardorff MA, Biegel JA, Gai X, Sun M, Schmidt RJ, Raca G, Ji J.   +16 more
europepmc   +1 more source

YIPFα1A expression is regulated by multilayered molecular mechanisms

FEBS Open Bio, EarlyView.
YIPFα1A, a five‐pass Golgi protein, is regulated at multiple layers. (1) Rare‐codon enrichment drives translation‐coupled mRNA decay. (2) A proximal 3′‐UTR element stabilizes mRNA. (3) A distal 3′‐UTR element included by alternate poly(A) site usage represses translation, which can be overridden by the proximal 3′‐UTR element.
Tokio Takaji, Yurika Nakanishi, Nobuhiro Nakamura   +2 more
wiley   +1 more source

Benchmarking of germline copy number variant callers from whole genome sequencing data for clinical applications. [PDF]

Bioinform Adv
De La Vega FM, Irvine SA, Anur P, Potts K, Kraft L, Torres R, Kang P, Truong S, Lee Y, Han S, Onuchic V, Han J.   +11 more
europepmc   +1 more source

Polishing copy number variant calls on exome sequencing data via deep learning. [PDF]

Genome Res, 2022
Özden F, Alkan C, Çiçek AE.
europepmc   +1 more source

Molecular dynamics simulations of positively selected codons in FcγRI reveal novel biochemical binding properties

FEBS Open Bio, EarlyView.
Evolutionary analysis across 32 placental mammals identified positive selection at residues H148 and W149 in the immune receptor FcγR1. Ancestral reconstruction combined with molecular dynamics simulations reveals how these mutations may influence receptor structure and dynamics, providing insight into the evolution of antibody recognition and immune ...
David A. Young, Omar Arias‐Gaguancela, Fiona Gibson, Morgan Grainger, Jodie Score, Amit Nathubhai, Mauricio Cafiero, Lee Richard Machado   +7 more
wiley   +1 more source

CNVoyant a machine learning framework for accurate and explainable copy number variant classification. [PDF]

Sci Rep
Schuetz RJ, Ceyhan D, Antoniou AA, Chaudhari BP, White P.   +4 more
europepmc   +1 more source

Pharmacological inhibition of the PERK pathway modulates hepatocellular carcinoma growth and immune signaling

FEBS Open Bio, EarlyView.
Pharmacological inhibition of PERK in a DEN‐induced mouse model of liver cancer does not reduce tumor burden but alters cellular stress signaling. Despite blocking PERK activity, downstream stress responses, including CHOP expression, remain active, suggesting compensatory mechanisms within the unfolded protein response that may influence tumor ...
Ada Lerma‐Clavero, Maria Kopsida, Nathalie Arendt, Hans Lennernäs, Markus Sjöblom, Femke Heindryckx   +5 more
wiley   +1 more source