Results 181 to 190 of about 152,624 (261)

Rapid <i>de novo</i> assembly of animal-microbe biofilter to mitigate seabed methane leakage. [PDF]

open access: yesNatl Sci Rev
Liang Q   +25 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf   +7 more
wiley   +1 more source

Beyond Canonical CO Oxidation: Structural and Evolutionary Insights Into a Non‐Canonical Carbon Monoxide Dehydrogenase

open access: yesAngewandte Chemie, EarlyView.
Clade B carbon monoxide dehydrogenases (CODHs) remain enigmatic, diverging from canonical CODHs in structure and function. Here, we present the first characterization of Ruminococcus flavefaciens CODH (RfCODH), revealing occluded substrate pathways and attenuated CO oxidation activity.
Maximilian Böhm   +6 more
wiley   +2 more sources

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

A Lipid‐Conjugation Strategy for Intracellular Reactive Oxygen Species Control in Hepatic Cells

open access: yesAngewandte Chemie, EarlyView.
A lipid conjugation strategy anchors a manganese Salen complex within phospholipid membranes, yielding stable, catalytically active liposomes. These lipid–metal assemblies efficiently degrade reactive oxygen species (ROS) and enable intracellular redox control in steatotic HepaRG cells, offering a precise route to biomimetic antioxidant design ...
Olav Vestrheim   +7 more
wiley   +2 more sources

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

open access: yesAnnals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos   +46 more
wiley   +1 more source

Defect‐Guided Assembly of Aperiodic and Flexible Metal–Organic Frameworks From Pre‐Formed Cages

open access: yesAngewandte Chemie, EarlyView.
A cage‐directed strategy is used to program topologically correlated defects and induce aperiodicity in HKUST‐1‐type MOFs. A missing carboxylate group in the linker drives the formation of Cu‐vacancy domains, while Rh(II) cages spatially confine these defects.
Francisco Sánchez‐Férez   +12 more
wiley   +2 more sources

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