Results 41 to 50 of about 50,342 (212)

Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

Pediatrics and Neonatology, 2008
Mutation of mitochondrial DNA (mtDNA) G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and Leigh syndrome.
Shi-Bing Wang, Wen-Chin Weng, Ni-Chung Lee, Wuh-Liang Hwu, Pi-Chuan Fan, Wang-Tso Lee   +5 more
doaj   +1 more source

Rehabilitation Therapy in Older Acute Heart Failure Patients (REHAB-HF) trial: Design and rationale. [PDF]

, 2017
BACKGROUND: Acute decompensated heart failure (ADHF) is a leading cause of hospitalization in older persons in the United States. Reduced physical function and frailty are major determinants of adverse outcomes in older patients with hospitalized ADHF ...
Duncan, Pamela, Eggebeen, Joel D., Hewston, Leigh Ann, Kitzman, Dalane W., Mentz, Robert J., Morgan, Timothy M., O\u27Connor, Christopher M., Pastva, Amy M., Reed, Shelby D., Reeves, Gordon R., Rejeski, W. Jack, Rosenberg, Paul B., Whellan, David J.   +12 more
core   +2 more sources

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation

Stem Cell Research, 2021
Leigh syndrome is a progressive neurodegenerative disease due to defects in the mitochondrial genes, including mitochondrial DNA cytochrome b (MTCYB) mutation, that typically begins in infancy or early childhood.
Daryeon Son, Jie Zheng, In Yong Kim, Seungkwon You   +3 more
doaj   +1 more source

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation. [PDF]

, 2020
BackgroundCongenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic.
Anderson, Kendall J, Clark, Leigh Anne, Evans, Jacquelyn M, Guo, Ling T, Knipe, Marguerite, Shelton, G Diane, Sturges, Beverly K, Tsai, Kate L, Vernau, Karen M, Williams, D Colette, Winger, Kathryn, Zwueste, Danielle M   +11 more
core  

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Targeting the expressive language of children with Down syndrome who are minimally verbal : bridging research and practice [PDF]

, 2014
textChildren with Down syndrome present with an array of physical and cognitive sequelae that can hinder speech and language development. These individuals can constitute a considerable portion of a speech-language pathologist’s caseload.
Kara, Rachael Leigh 1981-
core  

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

Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome [PDF]

, 2017
Barth syndrome (BTHS) is an X‐linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected
Altschuld, American College of Sports Medicine, Bahi, Barth, Bashir, Bione, Bissler, Cade, Cade, Chance, Chance, Conway, Edwards, El-Sharkawy, Gomez, Gonzalvez, Hiona, Hom, Hudsmith, Ingwall, Kemp, Kemp, Kemp, Kemp, Kushmerick, Lang, Lanza, Lanza, Larson-Meyer, Layec, Liu, Matthews, Meyer, Meyer, Minotti, Naressi, Nascimben, Neubauer, Powers, Ratel, Roussel, Sapega, Schlame, Sgobbo, Smith, Spencer, Spencer, Spoladore, Takahashi, Taylor, Taylor, Thaveau, Thompson, Tonson, Vanhamme, Wang, Wasserman, Waters, Xu, Yao, Zhang, Zoll   +61 more
core   +2 more sources

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source