Related papers: Understanding Molecular Basis of PTPN11-Related Di…
SCN2A encodes the alpha subunit of the voltage-gated sodium channel Nav1.2, which is involved in action potential initiation and backpropagation in glutamatergic neurons. Mutations in the gene lead to SCN2A-related disorders, which are…
Background: Many genome-wide association studies have detected genomic regions associated with traits, yet understanding the functional causes of association often remains elusive. Utilizing systems approaches and focusing on intermediate…
The single nucleotide polymorphism (SNP) rs7903146 in the TCF7L2 gene has been determined as one of the strongest common genetic risk factors for Type 2 Diabetes (T2D). The location of the SNP in a non-coding region suggests a regulatory…
Computational methods are needed to differentiate the small fraction of missense mutations that contribute to disease by disrupting protein function from neutral variants. We describe several complementary methods using large-scale homology…
Dynamics of solitons is considered in the framework of the extended nonlinear Schrodinger equation (NLSE), which is derived from a system of Zakharov's type for the interaction between high- and low-frequency (HF and LF) waves, in which the…
The identification and validation of gene-gene interactions is a major challenge in human studies. Here, we explore an approach for studying epistasis in humans using a Drosophila melanogaster model of neonatal diabetes mellitus. Expression…
Elucidating the functional effect of missense variants is of crucial importance, yet challenging. To understand the impact of such variants, we fine-tuned the ESM2 protein language model to classify 20 protein features at amino acid…
The activation of matrix metalloproteinase 2 (MMP2) is a crucial event during tumor metastasis and invasion, and this pathway network consists of 3 monomers. The pathway network of the activation obeys to a set of specified reaction rules.…
Understanding the origin of lepton number violation is one of the fundamental questions in particle physics today. Neutrinoless double beta decay provides a way in which this violation can be tested. In this article, we derive the form of…
Neural activity in the brain of parkinsonian patients is characterized by the intermittently synchronized oscillatory dynamics. This imperfect synchronization, observed in the beta frequency band, is believed to be related to the…
Various theoretical studies have been carried out to infer relevant protein-protein interactions among pathogens and their hosts. Such studies are generally based on preferential attachment of bacteria / virus to their human receptor…
In lymphoma, mutations in genes of histone modifying proteins are frequently observed. Notably, somatic mutations in the activatory histone modification writing protein MLL2 and the repressive modification writer EZH2 are the most frequent.…
Oxidative stress is a pathological hallmark of neurodegenerative tauopathic disorders such as Alzheimer's disease and Parkinson's disease-related dementia, which are characterized by altered forms of the microtubule-associated protein (MAP)…
Mutations in the MTM1 gene, encoding the phosphoinositide phosphatase myotubularin, are responsible for the X-linked centronuclear myopathy (XLCNM) or X-linked myotubular myopathy (XLMTM). The MTM1 gene was first identified in 1996 and its…
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders,…
Atypical Parkinsonian Disorders (APD), also known as Parkinson-plus syndrome, are a group of neurodegenerative diseases that include progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). In the early stages, overlapping…
The SARS-CoV-2 RNA pseudoknot is a promising target for antiviral intervention, as it regulates the efficiency of $-$1 programmed ribosomal frameshifting ($-$1 PRF), a mechanism that is essential for viral protein synthesis. The pseudoknot…
We carried out Raman measurements on neutron-irradiated and Al-doped MgB$_2$ samples. The irradiation-induced topological disorder causes an unexpected appearance of high frequency spectral structures, similar to those observed in lightly…
Protein misfolding is implicated in many diseases, including the serpinopathies. For the canonical inhibitory serpin {\alpha}1-antitrypsin (A1AT), mutations can result in protein deficiencies leading to lung disease, and misfolded mutants…
Single nucleotide polymorphisms (SNPs) are variations at specific locations in DNA. Sequence responsible for marking genes associated with diseases or tracking inherited diseases within The family. These variations in the Rb1 gene can cause…