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Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders
Tandem nucleotide repeat (TNR) expansions, particularly the CNG nucleotide configuration, are associated with a variety of neurodegenerative...
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Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of...
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Correlation between targeted RNAseq signature of breast cancer CTCs and onset of bone-only metastases
BackgroundBone is the most frequent site of metastases from breast cancer (BC), but no biomarkers are yet available to predict skeletal dissemination.
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Identification of sixteen novel candidate genes for late onset Parkinson’s disease
BackgroundParkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure...
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CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia,...
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Fasting in combination with the cocktail Sorafenib:Metformin blunts cellular plasticity and promotes liver cancer cell death via poly-metabolic exhaustion
PurposeDual-Interventions targeting glucose and oxidative metabolism are receiving increasing attention in cancer therapy. Sorafenib (S) and...
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Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder
While whole genome sequencing and long-read sequencing have become widely available, more and more focuses are on noncoding expanded repeats. Indeed,...
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Proteomics analysis of chronic skin injuries caused by mustard gas
Sulfur mustard (SM) is an alkylating and forming chemical that was widely used by Iraqi forces during the Iran–Iraq wars. One of the target organs of...
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The polyG diseases: a new disease entity
Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal...
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Exploring gene network and protein interaction analysis of neurotrophin signaling pathway in ameloblastoma
Ameloblastoma is a non-cancerous but aggressive oral tumor emerging from odontogenic epithelial tissue involved during odontogenesis. Since there is...
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A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
BackgroundOculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis,...
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Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor
Essential tremor (ET) is one of the most common movement disorders, affecting nearly 5% of individuals over 65 years old. Despite this, few genetic...
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Diverse functions of myosin VI in spermiogenesis
Spermiogenesis is the final stage of spermatogenesis, a differentiation process during which unpolarized spermatids undergo excessive remodeling that...
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An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
BackgroundShort tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more...
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Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays of 1–6 base pair sequence motifs, that comprise a...
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Multiomics approach towards characterization of tumor cell plasticity and its significance in precision and personalized medicine
Cellular plasticity refers to the ability of cells to change their identity or behavior, which can be advantageous in some cases (e.g., tissue...
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Approaches to Identify and Characterise MYO6-Cargo Interactions
Given the prevalence and importance of the actin cytoskeleton and the host of associated myosin motors, it comes as no surprise to find that they are...
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The Significant Role of microRNAs in Gliomas Angiogenesis: A Particular Focus on Molecular Mechanisms and Opportunities for Clinical Application
MicroRNAs (miRNAs) are non-coding RNAs with only 20–22 nucleic acids that inhibit gene transcription and translation by binding to mRNA. MiRNAs have...
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Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases
Non-coding CGG repeat expansions within the 5′ untranslated region are implicated in a range of neurological disorders, including fragile...
