Results 71 to 80 of about 615,554 (304)

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy [PDF]

, 2009
Mammalian target of rapamycin (mTOR) is a key regulator of cell growth that associates with raptor and rictor to form the mTOR complex 1 (mTORC1) and mTORC2, respectively.
Baas, Dominique, Bauché, Stéphanie, Bigard, Xavier, Conjard-Duplany, Agnès, Corneloup, Claudine, Defour, Aurélia, Ferrier, Bernard, Ferry, Arnaud, Freyssenet, Damien, Gangloff, Yann-Gaël, Hantaï, Daniel, Koulmann, Nathalie, Kozma, Sara C., Le-Marchand-Brustel, Yannick, Mazelin, Laetitia, Moncollin, Vincent, Mueller, Matthias, Pende, Mario, Richard-Bulteau, Hélène, Risson, Valérie, Roceri, Mila, Romanino, Klaas, Rüegg, Markus A., Sanchez, Hervé, Schaeffer, Laurent, Tanti, Jean-François, Thomas, George, Vignaud, Alban   +27 more
core   +5 more sources

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Myogenic Cell Transplantation in Genetic and Acquired Diseases of Skeletal Muscle

Frontiers in Genetics, 2021
This article will review myogenic cell transplantation for congenital and acquired diseases of skeletal muscle. There are already a number of excellent reviews on this topic, but they are mostly focused on a specific disease, muscular dystrophies and in ...
Olivier Boyer, Gillian Butler-Browne, Hector Chinoy, Hector Chinoy, Giulio Cossu, Giulio Cossu, Giulio Cossu, Francesco Galli, James B. Lilleker, James B. Lilleker, Alessandro Magli, Vincent Mouly, Rita C. R. Perlingeiro, Stefano C. Previtali, Maurilio Sampaolesi, Maurilio Sampaolesi, Hubert Smeets, Hubert Smeets, Hubert Smeets, Verena Schoewel-Wolf, Simone Spuler, Yvan Torrente, Florence Van Tienen, Florence Van Tienen, Study Group, H. Aldearee, A. Bisson, L. Bragg, V. Bridoux, R. Duelen, A. Farini, E. Gazzero, N. Giarratana, C. Giverne, L. Meggiolaro, E. Negroni, E. Porrello, R. Tonlorenzi, C. Villa, L. Yedigaryan, A. Zamboni   +40 more
doaj   +1 more source

Reduction of Ribonucleotide Reductase Subunit RRM2 Potentially Impairs Gut Function of Woody Breast Broilers

Animal Research and One Health, EarlyView.
Woody breast compromises meat quality leading to reduced consumer appeal. Although its causes are unclear, improvements observed with certain dietary supplements suggest that gut health may influence woody breast development. Ribonucleotide reductase subunit RRM2 is vital for mitochondrial function and gastrointestinal integrity, and alteration in its ...
Majid Shakeri, Elizabeth Ziabtchenko, Janghan Choi, Caitlin E. Harris, Richard J. Buhr, Trevor R. Mitchell, Byungwhi Kong, Hong Zhuang, Brian Bowker   +8 more
wiley   +1 more source

Case report: perioperative management of caesarean section for a parturient with mitochondrial myopathy

BMC Anesthesiology, 2017
Background Mitochondrial myopathies represent a group of disorders caused by mitochondrial defects that disrupt energy production. Most patients have issues from infancy to early childhood.
Qiang Zheng, Penghui Wei, Jinfeng Zhou, Haipeng Zhou, Fucheng Ji, Wenxi Tang, Jianjun Li   +6 more
doaj   +1 more source

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke   +6 more
wiley   +1 more source

Antiretroviral therapy-induced Leber’s hereditary optic neuropathy

Southern African Journal of HIV Medicine, 2014
Optic neuropathy in HIV-infected patients results from the HIV infection itself, post-infectious auto-immune disease, opportunistic infections and drugs.
Anand Moodley, Sudika Bhola, Fierdoz Omar, Jade Mogambery   +3 more
doaj   +1 more source

Characterization of chicken muscle disorders through metabolomics, pathway analysis, and water relaxometry: a pilot study

Poultry Science, 2020
Metabolite profiles of chicken breast extracts and water mobility in breasts were studied using proton nuclear magnetic resonance (1H-NMR) spectroscopy and time-domain NMR (TD-NMR) relaxometry, respectively, using normal breast (NB), and wooden breast ...
Nara R.B. Cônsolo, Linda M. Samuelsson, Luís C.G.S. Barbosa, Tatiana Monaretto, Tiago B. Moraes, Vicente L.M. Buarque, Angel R. Higuera-Padilla, Luiz A. Colnago, Saulo L. Silva, Marlon M. Reis, André C. Fonseca, Cristiane S. da S. Araújo, Bruna G. de S. Leite, Fabricia A. Roque, Lúcio F. Araújo   +14 more
doaj   +1 more source