Results 111 to 120 of about 258,592 (266)

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 more
wiley   +1 more source

SeeSite: Efficiently Finding Co-occurring Splice Sites and Exon Splicing Enhancers [PDF]

arXiv, 2012
The problem of identifying splice sites consists of two sub-problems: finding their boundaries, and characterizing their sequence markers. Other splicing elements---including, enhancers and silencers---that occur in the intronic and exonic regions play an important role in splicing activity.
arxiv  

In Vivo‐Like Scaffold‐Free 3D In Vitro Models of Muscular Dystrophies: The Case for Anchored Cell Sheet Engineering in Personalized Medicine

Advanced Healthcare Materials, EarlyView.
The scaffold‐free Anchored Cell Sheet Engineering platform is used to create three‐dimensional (3D) in vitro models of skeletal muscle tissue that replicate key features of Duchenne and Myotonic dystrophies. These personalized tissue models, validated by histological, immunostaining, and proteomics analyses, accurately mimic disease phenotypes and ...
Alireza Shahin‐Shamsabadi, John Cappuccitti   +1 more
wiley   +1 more source

Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon. [PDF]

, 1988
Liisa Tikka, Taina Pihlajaniemi, Pirkko Henttu, Darwin J. Prockop, Karl Tryggvason   +4 more
openalex   +1 more source

Matrix Viscoelasticity Orchestrates Osteogenesis via Mechanotransduction Mediated Metabolic Switch in Macrophages

Advanced Healthcare Materials, EarlyView.
Fast‐relaxation viscoelastic hydrogel triggers a metabolic shift in macrophages, favoring oxidative phosphorylation (OXPHOS) over glycolysis via vasodilator‐stimulated phosphoprotein (VASP) / hypoxia‐inducible factor 1 alpha (HIF1α) signaling meditated mechanotransdution, thereby enhancing their capacity to recruit mesenchymal stem cells (MSCs) and ...
Dihao Tao, Hanzhe Wang, Shiping Chang, Jiayu Cheng, Ningning Da, Li Zhang, Jianhua Yang, Wenzhe Wang, Feng Xu, Bei Li   +9 more
wiley   +1 more source

Investigation of Mutations in Exons 15 and 18 of MYBPC3 Gene in Hypertrophic Cardiomyopathy Patients [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2015
Background: Hypertrophic cardiomyopathy (HCM) is a various collection of heart diseases with autosomal dominant inheritance affecting 0.2% of the global population.
Behnaz Sadat Abedi, Seyedeh Zohreh kiyani, Morteza Hashemzadeh Chaleshtori, Shahrbanoo Parchami, Abbas Doosti   +4 more
doaj  

Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. [PDF]

, 1989
Tadashi Ariga, Tomoko Igarashi, N Ramesh, Richard B. Parad, Marco Cicardi, Alvin E. Davis   +5 more
openalex   +1 more source

Development of Itaconate Polymers Microparticles for Intracellular Regulation of Pro‐Inflammatory Macrophage Activation

Advanced Healthcare Materials, EarlyView.
This study develops itaconate‐based polymer microparticles (IA‐MPs) for macrophage‐targeted intracellular delivery, overcoming the limitations of traditional itaconate administration. IA‐MPs achieve controlled release through phagocytosis, reducing pro‐inflammatory cytokine expression and reprogramming macrophage metabolism toward glycolysis.
Kaitlyn E. Woodworth, Zachary S.C.S. Froom, Natasha D. Osborne, Christian N. Rempe, Brenden Wheeler, Kyle Medd, Neal I. Callaghan, Huikang Qian, Abhinav P. Acharya, Carlie Charron, Locke Davenport Huyer   +10 more
wiley   +1 more source

The PreA4₆₉₅precursor protein of Alzheimer's disease A4 amyloid is encoded by 16 exons [PDF]

, 1989
H. G. Lemaire, J. Michael Salbaum, Gerd Multhaup, Jie Kang, Richard M. Bayney, Axel Unterbeck, Konrad Beyreuther, Benno Müller‐Hill   +7 more
openalex   +1 more source

Porous Silicon Nanoneedles Efficiently Deliver Adenine Base Editor to Correct a Recurrent Pathogenic COL7A1 Variant in Recessive Dystrophic Epidermolysis Bullosa

Advanced Materials, EarlyView.
Base editing using nanoneedles efficiently corrects pathogenic variants in the type VII collagen gene of primary fibroblasts from patients with recessive dystrophic epidermolysis bullosa. Nanoneedle editing induces minimal and reversible transcriptional perturbations while restoring the production and secretion of functional type VII collagen.
Salman Ahmad Mustfa, Marija Dimitrievska, Cong Wang, Chenlei Gu, Ningjia Sun, Katarzyna Romańczuk, Pawel Karpinski, Łukasz Łaczmański, John A. McGrath, Joanna Jacków‐Malinowska, Ciro Chiappini   +10 more
wiley   +1 more source