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The ALS/FTD-related C9orf72 hexanucleotide repeat expansion forms RNA condensates through multimolecular G-quadruplexes.
Nat Commun
December 2023
Imperial College London, Department of Chemistry, Molecular Sciences Research Hub, 82 Wood Lane, London, W12 0BZ, UK.
Article Synopsis
- - Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are linked neurodegenerative diseases, with the C9orf72 gene mutation being a common genetic cause due to the repeat of a hexanucleotide sequence (GGGGCC).
- - The research found that this GGGGCC sequence forms complex structures known as multimolecular G-quadruplexes (mG4s), which aggregate and contribute to the development of condensate formations associated with these diseases.
- - Increased levels of these G-quadruplex structures were detected in motor neurons from individuals with the C9orf72 mutation compared to healthy neurons, indicating that targeting these condensates could offer new therapeutic options for ALS/FTD.
Prognostic implications of miR-146b expression and its functional role in papillary thyroid carcinoma.
J Clin Endocrinol Metab
February 2013
Division of Metabolism, Department of Internal Medicine, Chang Gung Memorial Hospital-Kaohsiung Medical Center, 123 Ta-Pei Road, Niao-sung District, Kaohsiung City, Taiwan.
Context: Recent studies suggest that miR-146b deregulation in papillary thyroid carcinoma (PTC) was associated with advanced tumor characteristics. However, the influence of miR-146b expression on the prognosis of PTC remains unknown. We sought to correlate tumor expression levels of miR-146b with the prognosis of a previously reported PTC cohort and reveal the underlying mechanisms via a PTC cell line model.
View Article and Find Full Text PDFThe perioral dermatitis is a multifactorial disease of a face skin meeting in population with frequency of 5% also represents inflammatory process with the various morphological characteristic of an eruption. A total of 511 patients are surveyed by a perioral dermatitis. For the first time clinico-pathogenetic types of development and a disease current (it is hormonal--immunologic, allergic, gastroenterology, metabolic) with characteristic distinctive changes of the hormonal status, a metabolism and immunity system are allocated.
View Article and Find Full Text PDF[Extranodal diffuse large B-cell lymphoma--an organotypic disease?].
Pathologe
February 2007
Institut für Pathologie, Julius-Maximilians-Universität Würzburg.
Roughly 30-40% of diffuse large B-cell lymphomas (DLBCL) arise primarily in extranodal sites. Most frequently, they occur in the gastrointestinal tract, especially in the gastric mucosa. They also occur in the central nervous system, as testicular lymphomas, in the lungs, or in the skin.
View Article and Find Full Text PDFClinico-pathogenetic characteristics of recurrent ulcer disease and acute ulcers were studied in 84 patients with unstable coronary heart disease (CHD). It was found that a relapse of ulcer disease (UD) in CHD presents with moderate abdominal pain without a typical circadian rhythm and with dyspepsia registered, as a rule, for 2 weeks. Acute ulcers often manifested with weak epigastric pain and symptoms of gastric dyspepsia observed usually for several days of hospital treatment.
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