Results 101 to 110 of about 28,373 (282)

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individuals

Genome Biology
Background Nonsense-mediated mRNA decay (NMD) is a quality-control pathway that degrades mRNA bearing premature termination codons (PTCs) resulting from mutation or mis-splicing, and that additionally participates in gene regulation of unmutated ...
Guillermo Palou-Márquez, Fran Supek
doaj   +1 more source

Nonsense‐mediated decay targets have multiple sequence‐related features that can inhibit translation

Molecular Systems Biology, 2010
Nonsense‐mediated mRNA decay (NMD) is a surveillance system that eliminates transcripts with premature termination codons. In this study, we show that mRNAs targeted by NMD are also suppressed at the translational level. The low translational efficiency (
Zhenguo Zhang, Li Zhou, Landian Hu, Yufei Zhu, Heng Xu, Yang Liu, Xianfen Chen, Xianfu Yi, Xiangyin Kong, Laurence D Hurst   +9 more
doaj   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Direct and indirect effects of spliceosome disruption compromise gene regulation by nonsense-mediated mRNA decay

RNA Biology
Pre-mRNA splicing, carried out in the nucleus by a large ribonucleoprotein machine known as the spliceosome, is functionally and physically coupled to the mRNA surveillance pathway in the cytoplasm called nonsense-mediated mRNA decay (NMD).
Caleb M. Embree, Debadrita Paul, Andreas Stephanou, Guramrit Singh   +3 more
doaj   +1 more source

Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey [PDF]

Bone strength is reduced In various neuromuscular disorders (NMDs). We aimed to assess the awareness and practice of bone strength management in NDMs among clinicians and patients.
on behalf of the EURO-NMD Bone Strength Study Group
core  

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

Muscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke, Stephanie Johnson, Kayla Chomko, Angela Escalante, Kendall C. Hall, Melis Lydston, Courtney Uek, Gabriella Casagrande, Hyun Jung Kim, James Arnold, David Pont‐Esteban, Harrison Young, Conor Walsh, Sabrina Paganoni   +13 more
wiley   +1 more source

Systematic Review of Patient‐ and Observer‐Reported Outcomes of Fatigue in Pediatric Neuromuscular Disorders

Muscle &Nerve, EarlyView.
ABSTRACT Fatigue is a burdensome symptom for pediatric populations with neuromuscular disorders, often assessed using patient‐ and observer‐reported outcomes. The three aims of this systematic review are to: (1) explore, summarize and critically appraise primary studies that measure fatigue in pediatric neuromuscular disorders using patient‐ and ...
Monica Marzouk, Kayla M. D. Cornett, Gabrielle A. Donlevy, Carl Young, Joshua Burns, Manoj P. Menezes, Marnee J. McKay   +6 more
wiley   +1 more source

The contribution of symptoms of post-traumatic stress disorder (PTSD), health anxiety and intolerance of uncertainty to distress in Ménière's disease

, 2009
This study assessed whether symptoms of post-traumatic stress disorder (PTSD), health anxiety, and intolerance of uncertainty were associated with distress in members of the Ménière's Society (n = 800), and compared the extent of anxiety, depression ...
Yardley, L., Kirby, S.E.
core   +1 more source

The assembly of floral fungal communities in multihabitat landscapes

Oikos, EarlyView.
The extent to which deterministic versus stochastic processes assemble floral fungal communities remains an ongoing ecological question. Three classic hypotheses from ecological theory that may contribute to floral fungal community assembly are: (H1) species sorting and environmental filtering when fungal community composition differs by plant species,
Rebecca A. Nelson, Gillian E. Bergmann, Emma E. Jochim, Fernanda S. Valdovinos   +3 more
wiley   +1 more source