Results 111 to 120 of about 73,071 (237)
ACTA1‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods
Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.We report a patient with an adult‐onset, slowly progressive, ACTA1‐related scapuloperoneal myopathy with cores and rods, determined by the heterozygous variant NM_001100.4:c.1001C > T, p.(Pro334Leu). The scapuloperoneal phenotype could represent a distinct subcategory, and the characterisation of this patient with a less severe, different clinical ...
Alexandru Caramizaru +10 more
wiley +1 more source
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy
Einstein (São Paulo)Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco +3 more
doaj +1 more source
Advanced Healthcare Materials, Volume 15, Issue 9, 6 March 2026.This study presents guanidinium‐ and indole‐functionalized polyphosphoesters as degradable, non‐viral gene delivery vectors. Through precise tuning of charge density and hydrophobicity, these polymers form stable polyplexes with low toxicity. Remarkably, minor structural changes yield up to 200‐fold differences in transfection efficiency, highlighting ...
Markus Kötzsche +8 more
wiley +1 more source
RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy
Advanced Science, Volume 13, Issue 13, 3 March 2026.This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu +12 more
wiley +1 more source
HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration
Advanced Science, Volume 13, Issue 16, 18 March 2026.This study constructed the first developmental atlas of embryonic skeletal muscle fibro/adipogenic progenitors (FAPs) and identified an HMGB2+ FAPs subpopulation that regulates FAP pool size and muscle homeostasis. HMGB2 directly targets the RAD21 promoter, and its knockout significantly reduces FAP numbers, thereby lowering the potential for ...
Xian Tong +14 more
wiley +1 more source
Benefits of the Duchenne Smile and Positive Emotions. A Systematic Review
Educaţia 21The Duchenne smile is the genuine smile characterized by the activation of the muscles around the eyes and mouth. It has been associated, in the specialized literature, with the experience of positive emotions.
Violeta Lupu-Merca, Sebastian Vaida
doaj +1 more source
City Slicker or Country Bumpkin?—Distinguishing Urban and Rural Residents From Subtle Facial Cues
European Journal of Social Psychology, Volume 56, Issue 2, Page 350-366, March 2026.ABSTRACT Stereotypes characterize urban and rural residents as differing in traits, values and social outcomes. Here, we examined how people's stereotypes about urban and rural residents differ, testing their validity using a lens model. Results showed that participants detected whether people resided in urban or rural areas from photos across three ...
McLean G. Morgan +2 more
wiley +1 more source
RNA‐Based Therapies for Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Fabry disease is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A (α‐Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso‐Gb3) in various organs.
Siwu He +15 more
wiley +1 more source
Therapeutics and Clinical Risk Management, 2017 David Feder,1 Miriam Eva Koch,1 Beniamino Palmieri,2 Fernando Luiz Affonso Fonseca,1 Alzira Alves de Siqueira Carvalho3 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil; 2Department of General Surgery ...
Feder D +4 more
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