A single nucleotide polymorphism characterized by the substitution of valine for glutamate (V1188E) in exon 25 of the multidrug resistance protein 2 gene was found in a group of patients with primary biliary cirrhosis. This heterozygous mutation was significantly associated with the presence of pruritus.
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Effects of miRNAs in inborn error of metabolism and treatment strategies.
Postgrad Med J
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Department of Pediatric Metabolic Diseases, University of Health Sciences, Ankara Etlik City Hospital, Ankara 06170, Turkey.
Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.
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Skolkovo Institute of Science and Technology, Moscow, Russian Federation.
Introduction: Identifying early risks of developing Alzheimer's disease (AD) is a major challenge as the number of patients with AD steadily increases and requires innovative solutions. Current molecular diagnostic modalities, such as cerebrospinal fluid (CSF) testing and positron emission tomography (PET) imaging, exhibit limitations in their applicability for large-scale screening. In recent years, there has been a marked shift toward the development of blood plasma-based diagnostic tests, which offer a more accessible and clinically viable alternative for widespread use.
View Article and Find Full Text PDFVps4a Mediates a Unified Membrane Repair Machinery to Attenuate Ischemia/Reperfusion Injury.
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Center for Genetic Medicine, the Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China (X.H., J.Z., C.X., R.C., P.J., X.J., P.H.).
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CNS Neurosci Ther
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Department of Neurology, School of Medicine, Guangzhou First People's Hospital, South China University of Technology, Guangzhou, China.
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MedComm (2020)
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Chikungunya virus (CHIKV) is a mosquito-borne alphavirus that is primarily known for causing severe joint and muscle symptoms, but its pathological effects have extended beyond these tissues. In this study, we conducted a comprehensive proteomic analysis across various organs in rodent and nonhuman primate models to investigate CHIKV's impact on organs beyond joints and muscles and to identify key host factors involved in its pathogenesis. Our findings reveal significant species-specific similarities and differences in immune responses and metabolic regulation, with proteins like Interferon-Stimulated Gene 15 (ISG15) and Retinoic Acid-Inducible Gene I (RIG-I) playing crucial roles in the anti-CHIKV defense.
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