Muscle versus Snail: Muscle wins [PDF]
Epithelial–mesenchymal transitions (EMTs) are often governed by the transcription factor Snail and entail the loss of apical junctions from epithelial cells. In this issue, Weng and Wieschaus (2016. J Cell Biol. http://dx.doi.org/10.1083/jcb.201508056) report that actomyosin contractility can strengthen junctions to override Snail-dependent junctional ...
Ulrich Tepass, Sérgio Simões
openaire +3 more sources
Phenotypic continuum of NFU1‐related disorders
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov+45 more
wiley +1 more source
Towards an efficient inverse static model of a Festo actuator made of two antagonist muscles for hybrid control of its position and stiffness [PDF]
The Festo air muscle is today one of the most known commercial version of the so-called McKibben pneumatic artificial muscle. A major advantage of handmade McKibben muscles, as well as its commercial versions, lies in the possibility it offers of realizing antagonist muscle actuator on the model of the biceps-triceps system.
arxiv
Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han+5 more
wiley +1 more source
Selective Cricothyroid Muscle Reinnervation by Muscle-Nerve-Muscle Neurotization [PDF]
To determine if selective reinnervation of the cricothyroid muscle could be achieved with muscle-nerve-muscle neurotization.Case series.Tertiary referral center.Three consecutive patients with high vagal lesions that resulted in unilateral laryngeal paralysis.Patients underwent laryngeal reinnervation with ansa hypoglossi to recurrent laryngeal nerve ...
Ramon M. Esclamado+5 more
openaire +2 more sources
Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease
Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh+5 more
wiley +1 more source
Precise Few-shot Fat-free Thigh Muscle Segmentation in T1-weighted MRI [PDF]
Precise thigh muscle volumes are crucial to monitor the motor functionality of patients with diseases that may result in various degrees of thigh muscle loss. T1-weighted MRI is the default surrogate to obtain thigh muscle masks due to its contrast between muscle and fat signals.
arxiv
Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases
The Kelch protein superfamily includes 63 members, with the KLHDC subfamily having 10 proteins. While their functions are not fully understood, recent advances in KLHDC2's structure and role in protein degradation have highlighted its potential for drug development, especially in PROTAC therapies.
Courtney Pilcher+6 more
wiley +1 more source
Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
Abstract The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is necessary for quantitative data pooling. We applied the modified Friedreich Ataxia Rating Scale
Christian Rummey+5 more
wiley +1 more source
An Euler-Bernoulli-Type Beam Model of the Vocal Folds for Describing Curved and Incomplete Glottal Closure Patterns [PDF]
Incomplete glottal closure is a laryngeal configuration wherein the glottis is not fully obstructed prior to phonation. In this work, we introduce an Euler-Bernoulli composite beam vocal fold (VF) model that produces qualitatively similar incomplete glottal closure patterns as those observed in experimental and high-fidelity numerical studies, thus ...
arxiv