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ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.
Proc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
View Article and Find Full Text PDFPARP12-mediated ADP-ribosylation contributes to breast cancer cell fate by regulating AKT activation and DNA-damage response.
Cell Mol Life Sci
January 2025
Institute of Endotypes in Oncology, Metabolism, and Immunology, National Research Council, Via Pietro Castellino 111, Naples, Italy.
Breast cancer represents the primary cause of death of women under 65 in developed countries, due to the acquisition of multiple drug resistance mechanisms. The PI3K/AKT pathway is one of the major regulating mechanisms altered during the development of endocrine resistance and inhibition of steps in this signalling pathway are adopted as a key strategy to overcome this issue. ADP-ribosylation is a post-translational modification catalysed by PARP enzymes that regulates essential cellular processes, often altered in diseases.
View Article and Find Full Text PDFEntropy stabilized form chirality in curved rod nematics: structure and symmetries.
Soft Matter
January 2025
Department of Materials Science, University of Patras, 26504 Patras, Greece.
Monte Carlo molecular simulations of curve-shaped rods show the propensity of such shapes to polymorphism revealing both smectic and polar nematic phases. The nematic exhibits a nanoscale modulated local structure characterized by a unique, polar, -symmetry axis that tightly spirals generating a mirror-symmetry-breaking organization of the achiral rods-form chirality. A comprehensive characterization of the polarity and its symmetries in the nematic phase confirms that the nanoscale modulation is distinct from the elastic deformations of a uniaxial nematic director in the twist-bend nematic phase.
View Article and Find Full Text PDFMiniaturized inertial sensor based on high-resolution dual atom interferometry.
Rev Sci Instrum
January 2025
State Key Laboratory of Magnetic Resonance and Atomic and Molecular Physics, Innovation Academy for Precision Measurement Science and Technology, Chinese Academy of Sciences, Wuhan 430071, China.
Atom interferometry shows high sensitivity for inertial measurements in the laboratory, but it faces difficulties in field applications because of a trade-off between sensitivity and size. Therefore, there is an urgent need to develop a small sensor with high resolution for measuring acceleration and rotation in inertial navigation applications. Presented here is a miniaturized inertial sensor capable of measuring acceleration and rotation simultaneously based on high-resolution dual atom interferometers.
View Article and Find Full Text PDFThe Cutaneous Pathology of Erythromelalgia and Its Role in Establishing Critical Clues Regarding Pathogenesis.
Am J Dermatopathol
January 2025
Department of Dermatology, Brown University, Providence, RI.
Erythromelalgia, a rare cutaneous pain syndrome, is characterized by acral burning pain and flushing, often alleviated by cold and rest. Primary erythromelalgia is caused by gain-of-function mutations of genes encoding for sodium channels, resulting in hyperexcitability of pain signaling neurons. Autoimmunity and hematologic dyscrasias such as thrombocythemia have been implicated in secondary erythromelalgia.
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