Results 21 to 30 of about 2,287,543 (147)

Severe Inhibition of Long-Chain Acyl-CoA Enoylhydratase (EC 4.2.1.74) in a Newborn Foal Suffering From Atypical Myopathy

Frontiers in Veterinary Science, 2021
In horses, congenital defects of energy production from long-chain fatty acids have not been described so far. In contrast, inhibition of fatty acid degradation caused by the toxins hypoglycin A and methylenecyclopropylglycine from various maple species ...
Johannes Sander, Johannes Sander, Michael Terhardt, Nils Janzen, Nils Janzen   +4 more
doaj   +1 more source

TAK1 inhibition improves myoblast differentiation and alleviates fibrosis in a mouse model of Duchenne muscular dystrophy

Journal of Cachexia, Sarcopenia and Muscle, 2021
Background Transforming growth factor‐β‐activated kinase 1 (TAK1) plays a key role in regulating fibroblast and myoblast proliferation and differentiation. However, the TAK1 changes associated with Duchenne muscular dystrophy (DMD) are poorly understood,
Dengqiu Xu, Sijia Li, Lu Wang, Jingwei Jiang, Lei Zhao, Xiaofei Huang, Zeren Sun, Chunjie Li, Lixin Sun, Xihua Li, Zhenzhou Jiang, Luyong Zhang   +11 more
doaj   +1 more source

SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

Journal of Inborn Errors of Metabolism and Screening, 2016
The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ...
Ernesto Carlos González Reyes PhD, Elisa M. Castells MSc, Amarilys Frómeta MSc, Ana Luisa Arteaga MD, Lesley Del Río MSc, Yileidis Tejeda MSc, Pedro L. Pérez LT, Mary Triny Segura BSc, Pedro Almenares MSc, Yenitse Perea MSc, Niurka M. Carlos MSc, René Robaina MD, PhD, José L. Fernández-Yero MD, PhD   +12 more
doaj   +1 more source

A potential therapeutic effect of catalpol in Duchenne muscular dystrophy revealed by binding with TAK1

Journal of Cachexia, Sarcopenia and Muscle, 2020
Background Duchenne muscular dystrophy (DMD) is a progressive muscle disease caused by the loss of dystrophin, which results in inflammation, fibrosis, and the inhibition of myoblast differentiation in skeletal muscle.
Dengqiu Xu, Lei Zhao, Jingwei Jiang, Sijia Li, Zeren Sun, Xiaofei Huang, Chunjie Li, Tao Wang, Lixin Sun, Xihua Li, Zhenzhou Jiang, Luyong Zhang   +11 more
doaj   +1 more source

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

Clinical Case Reports, 2018
Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required.
Wenjie Li, Xianze Meng, Weiqing Wang, Jinfeng Lv, Yingmei Sun, Yanan Lv, Caijuan Wang, Hongqin Wang, Mei Wang, Dongpo Song   +9 more
doaj   +1 more source

A high-throughput human tissue model for respiratory viruses: Automating the use of human airway epithelial tissues for faster drug discovery

SLAS Discovery
Animal testing for drug discovery is expensive and the decision to test a compound in an in vivo model should be carefully considered. In addition, the FDA Modernization Act has resulted in the allowance of alternatives to animal models for testing the ...
N. Miranda Nebane, Andrew Reece, Lynn Rasmussen, Melinda Sosa, Pedro Ruiz, Sara M. Cabrera, Yohanka Martinez-Gzegozewska, Paige Vinson   +7 more
doaj   +1 more source

VHL-HIF-2α axis-induced SEMA6A upregulation stabilized β-catenin to drive clear cell renal cell carcinoma progression

Cell Death and Disease, 2023
SEMA6A is a multifunctional transmembrane semaphorin protein that participates in various cellular processes, including axon guidance, cell migration, and cancer progression.
Jing Ji, Yuxin Xu, Mengru Xie, Xingbei He, Dexu Ren, Teng Qiu, Wenwen Liu, Zefeng Chen, Wen Shi, Zhen Zhang, Xiujun Wang, Weiling Wang, Jinming Ma, Qilan Qian, Aixin Jing, Xinhui Ma, Jingting Qin, Yuanyuan Ding, Ting Geng, Jiayan Yang, Zhichao Sun, Wei Liu, Shunfang Liu, Bin Liu   +23 more
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Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

BMC Medical Genetics, 2018
Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect in the ...
Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu   +5 more
doaj   +1 more source

A new method for quantifying causative and diagnostic markers of methylenecyclopropylglycine poisoning

Toxicology Reports, 2019
Background: Up to now quantification of hypoglycin A in serum and urine in the range of nmols to μmols per liter plus the measurement of accumulated acyl conjugates have been used for the diagnosis of poisoning by fruits or seeds ofSapindaceae in humans ...
Johannes Sander, Michael Terhardt, Stefanie Sander, Sabine Aboling, Nils Janzen   +4 more
doaj   +1 more source

Lesions of “uncertain malignant potential” in the breast (B3) identified with mammography screening

BMC Cancer, 2018
Background Core needle biopsy (CNB) is a standard diagnostic procedure in the setting of breast cancer screening. However, CNB may result in the borderline diagnoses of lesion of uncertain malignant potential (B3). The aim of this study was to access the
Christiane Richter-Ehrenstein, Katharina Maak, Sonja Röger, Tilman Ehrenstein   +3 more
doaj   +1 more source