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Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived...
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C-terminal truncation of the hemagglutinin-neuraminidase (HN) protein enhances the virulence and immunogenicity of Newcastle disease virus (NDV) vaccine strain V4
The hemagglutinin-neuraminidase (HN) protein of Newcastle disease virus (NDV) is a multifunctional protein with receptor recognition ability that...
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Truncation mutations in MYRF underlie primary angle closure glaucoma
Mutations in myelin regulatory factor ( MYRF ), a gene mapped to 11q12-q13.3, are responsible for autosomal dominant high hyperopia and seem to be...
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Carboxyl truncation of α-synuclein occurs early and is influenced by human APOE genotype in transgenic mouse models of α-synuclein pathogenesis
Post-translational modifications to the carboxyl (C) terminus domain of α-synuclein can play an important role in promoting the pathologic...
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Balanced truncation for model reduction of biological oscillators
Model reduction is a central problem in mathematical biology. Reduced order models enable modeling of a biological system at different levels of...
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A multiverse of α-synuclein: investigation of prion strain properties with carboxyl-terminal truncation specific antibodies in animal models
Synucleinopathies are a group of neurodegenerative disorders characterized by the presence of misfolded α-Synuclein (αSyn) in the brain. These...
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Characteristic craniofacial defects associated with a novel USP9X truncation mutation
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl...
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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the...
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Optimization of Signal Space Separation for Optically Pumped Magnetometer in Magnetoencephalography
Magnetoencephalography (MEG) is a noninvasive functional neuroimaging modality but highly susceptible to environmental interference. Signal space...
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N-terminus of Etanercept is Proteolytically Processed by Dipeptidyl Peptidase-4
PurposeBiologics are structurally heterogeneous and can undergo biotransformation in the body. Etanercept (ETN) is a fusion protein composed of a...
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Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation
During brain development, the nucleus of migrating neurons follows the centrosome and translocates into the leading process. Defects in these...
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Fourth-order fitted mesh scheme for semilinear singularly perturbed reaction–diffusion problems
ObjectiveThe main purpose of this work is to present a fourth-order fitted mesh scheme for solving the semilinear singularly perturbed...
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Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the...
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Exon skip** caused by splicing mutation in TNNT1 nemaline myopathy
The TNNT1 gene encoding the slow skeletal muscle TnT has been identified as a causative gene for nemaline myopathy. TNNT1 nemaline myopathy is mainly...
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Endothelium-specific deletion of p62 causes organ fibrosis and cardiac dysfunction
BackgroundThe autophagy adapter SQSTM1/p62 is crucial for maintaining homeostasis in various organs and cells due to its protein–protein interaction...
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PLK1 phosphorylates RhoGDI1 and promotes cancer cell migration and invasion
BackgroundRho guanine nucleotide dissociation inhibitor 1 (RhoGDI1) plays an important role in diverse cellular processes by regulating Rho guanosine...
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A Vector Fitting Approach for the Automated Estimation of Lumped Boundary Conditions of 1D Circulation Models
PurposeThe choice of appropriate boundary conditions is a crucial step in the development of cardiovascular models for blood flow simulations. The...
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The impact of TOPBP1 mutations in human cancers on the DNA damage response
TOPBP1 (Topoisomerase IIβ-binding protein 1) mediates protein–protein interaction and DNA damage response (DDR) activation in DNA damage sensing and...
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The Involvement of Post-Translational Modifications in Regulating the Development and Progression of Alzheimer’s Disease
Post-translational modifications (PTMs) have been recently reported to be involved in the development and progression of Alzheimer’s disease (AD). In...
