Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Rui Ban"'
Publikováno v:
Rheumatology & Autoimmunity, Vol 3, Iss 3, Pp 166-178 (2023)
Abstract Background Dermatomyositis (DM) is an idiopathic inflammatory myopathy (IIM). In this study, we investigated the mRNAs and long noncoding RNAs (lncRNAs) in muscle biopsy specimens that are differentially expressed among patients with DM, pat
Externí odkaz:
https://doaj.org/article/bf805dcba49040f9bf6f2200b9992c9e
Autor:
Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studi
Externí odkaz:
https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83
Publikováno v:
Results in Physics, Vol 44, Iss , Pp 106195- (2023)
The propagation of Rayleigh waves along solid surfaces has attracted great attention due to its ubiquity in seismic waves, non-destructive evaluation, acoustic surface wave devices, and so on. Moreover, Rayleigh waves in periodic structures and their
Externí odkaz:
https://doaj.org/article/5c803419a5894c6c9d2f5b01ac23efce
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 10 (2022)
The unfolded protein response (UPR) is one of the most important protein quality control mechanisms in cells. At least, three factors are predicted to activate the UPR in yeast cells during fermentation. Using UPRE-lacZ as a reporter, we constructed
Externí odkaz:
https://doaj.org/article/8f33748ab3b443e7a21e36caf405fe13
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Introduction: Alveolar echinococcosis (AE) is a rare parasitic disease caused by the infection of Echinococcus multilocularis. AE may mimic malignancy both in clinical presentation and radiological imaging, which is often misdiagnosed as metastatic t
Externí odkaz:
https://doaj.org/article/435593ba07bc4e29ac762770e610160f
Autor:
Rui Ban, Zhimei Liu, Masaru Shimura, Xiao Tong, Junling Wang, Lei Yang, Manting Xu, Jing Xiao, Kei Murayama, Matthias Elstner, Holger Prokisch, Fang Fang
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ObjectiveThe cytochrome c oxidase assembly factor 7 (COA7) gene encodes a protein localized to mitochondria that is involved in the assembly of mitochondrial respiratory chain complex IV. Here, we report the clinical, genetic and biochemical analysis
Externí odkaz:
https://doaj.org/article/a7035ac7c1cd482da13f9e89eaf9e380
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 13, Pp 1569-1574 (2018)
Background: Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochond
Externí odkaz:
https://doaj.org/article/96c7f518425545c7aadf4837d84f1db4
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 4, Pp 448-453 (2018)
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype cor
Externí odkaz:
https://doaj.org/article/9f169a28d9b4410f97331da6c807493d
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 24, Pp 2986-2988 (2018)
Externí odkaz:
https://doaj.org/article/ee61e3e9412f4fdda4c221263b39f139
Autor:
Ting Chen, Xiang-Hui Lu, Hui-Fang Wang, Rui Ban, Hua-Xu Liu, Qiang Shi, Qian Wang, Xi Yin, Chuan-Qiang Pu
Publikováno v:
Chinese Medical Journal, Vol 129, Iss 15, Pp 1805-1810 (2016)
Background: Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopat
Externí odkaz:
https://doaj.org/article/23d680d879704f7dba3425571bfedb06