Molecular signatures of inherited and acquired sporadic late onset
Por um escritor misterioso
Last updated 28 março 2025

Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distinction between these disorders is therefore crucial when the diagnosis remains ambiguous after initial investigations. We sought to identify biomarkers facilitating this distinction and to investigate the pathophysiology of nemaline rod formation in these different disorders. Twenty-two muscle samples from patients affected by SLONM or iNM underwent quantitative histological analysis, laser capture microdissection for proteomic analysis of nemaline rod areas and rod-free areas, and transcriptomic analysis. In all iNM samples, nemaline rods were found in subsarcolemmal or central aggregates, whereas they were diffusely distributed within muscle fibers in most SLONM samples. In SLONM, muscle fibers harboring nemaline rods were smaller than those without rods. Necrotic fibers, increased endomysial connective tissue, and atrophic fibers filled with nemaline rods were more common in SLONM. Proteomic analysis detected differentially expressed proteins between nemaline rod areas and rod-free areas, as well as between SLONM and iNM. These differentially expressed proteins implicated immune, structural, metabolic, and cellular processes in disease pathophysiology. Notably, immunoglobulin overexpression with accumulation in nemaline rod areas was detected in SLONM. Transcriptomic analysis corroborated proteomic findings and further revealed substantial gene expression differences between SLONM and iNM. Overall, we identified unique pathological and molecular signatures associated with SLONM and iNM, suggesting distinct underlying pathophysiological mechanisms. These findings represent a step towards enhanced diagnostic tools and towards development of treatments for SLONM.

Labroots Genetics Week Virtual Event Series 2022

Clinicopathologic Profiles of Sporadic Late-Onset Nemaline

Single-Cell Epigenomics and Functional Fine-Mapping of

A pattern-based approach to the interpretation of skeletal muscle

Principles of Cancer Genetics, 2008, p.333.pdf - Institute of Biology

Alzheimer's disease associated with Down syndrome: a genetic form

Clinicopathologic Profiles of Sporadic Late-Onset Nemaline

Molecular profiling in breast cancer

Molecular mechanisms underlying totipotency

The etiology of clonal mosaicism in human aging and disease

Transcriptomic analysis of inherited and sporadic late-onset

Unboxing the molecular modalities of mutagens in cancer

Cancers, Free Full-Text
Simultaneous RNA and DNA Adductomics Using Single Data-Independent
Recomendado para você
-
Omega Legends - Apps on Google Play28 março 2025
-
Fetal genome profiling at 5 weeks of gestation after noninvasive28 março 2025
-
Development of a Multiplex Glycan Microarray Assay and Comparative28 março 2025
-
Tertiary lymphoid structures generate and propagate anti-tumor28 março 2025
-
TheNightcapKing - Hobbyist, General Artist28 março 2025
-
Sodium butyrate alleviates R97-116 peptide-induced myasthenia28 março 2025
-
Full article: Impact of IgG subclass on monoclonal antibody28 março 2025
-
Inter- and intraspecies comparison of phylogenetic fingerprints28 março 2025
-
Nabwana I.G.G. - IMDb28 março 2025
-
Reading IGN's top 100 RPG list, when I noticed something odd28 março 2025
você pode gostar
-
Forza Street28 março 2025
-
Faixa ninja naruto da folha28 março 2025
-
Naruto Demon Slayer One Piece Pattern Lenticular Flip Anime 3D Motion Stickers - China Demon Slayer and Anime Online Wholesale price28 março 2025
-
100 brincadeiras populares brasileiras – Ecologia dos Saberes28 março 2025
-
Novos Códigos de Resgate - Banners e Novidades do Update 3.828 março 2025
-
SINPOSPETRO Niterói e Região faz ação para informar trabalhadores sobre negociação emperrada - Sinpospetro Niterói e Região28 março 2025
-
Tekken 8 Closed Beta Test First Impressions – IGN First28 março 2025
-
Sad Gru Noises : r/dankmemes28 março 2025
-
CapCut_antes e depois foto barbearia28 março 2025
-
Watch To LOVE-Ru · Season 3 Episode 3 · Each Speculation Full Episode Online - Plex28 março 2025