Results 81 to 90 of about 190,941 (249)
Advanced Science, EarlyView.Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling +17 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
Phospholipase C-β1 Directly Accelerates GTP Hydrolysis by Gαq and Acceleration Is Inhibited by Gβγ Subunits [PDF]
, 1999 Peter Chidiac, Elliott M. Ross
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
The effect of ribosomal peptidyl‐transferase inhibitors is antagonized by elongation factor G with GTP [PDF]
, 1976 Alexander S. Spirin, L. S. Asatryan
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Annals of Neurology, EarlyView.Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang +10 more
wiley +1 more source
The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding
Animal Research and One Health, EarlyView.A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang +10 more
wiley +1 more source
Self‐Calibrating Ratiometric DNA Aptamer Probe for Quantitative ATP Imaging in Living Cells
Chemistry – A European Journal, EarlyView.We developed the RFA–ECHO probe, an internally calibrated ATP sensor that remains responsive across millimolar ATP levels. Its self‐correcting Cy5/ECHO ratio ensures accurate quantification independent of probe uptake. Compared with FRET‐based sensors, it yields a robust ratiometric shift, distinguishing high‐ATP cancer cells from normal ones, enabling
Yunsong Xu +5 more
wiley +1 more source
Journal of Immunology Research, 2017 Cervical spondylotic radiculopathy (CSR) is the most general form of spinal degenerative disease and is characterized by pain and numbness of the neck and arm.
Wen Sun +9 more
doaj +1 more source
Interaction Between Actin and Microtubules During Plant Development
Cytoskeleton, EarlyView.ABSTRACT The dynamic interaction between actin filaments (AFs) and microtubules (MTs) plays a crucial role in regulating key developmental and physiological processes in plant cells, particularly in the formation of specialized cell types with distinct shapes and functions, such as pollen tubes, trichomes, and leaf epidermal cells.
Zining Wu +3 more
wiley +1 more source