Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Jianwen Deng"'
Autor:
Yilei Zheng, Tongling Liufu, Bing Wen, Chao Zhou, Lingchun Liu, Yusen Qiu, Wenquan Zou, Wei Zhang, Yu Li, Jianfeng Pei, Yiheng Zeng, Wanjin Chen, Chunhua Zhang, Yun Yuan, Guochun Wang, Chuanzhu Yan, Xin Lu, Jianwen Deng, Zhaoxia Wang, Daojun Hong
Publikováno v:
Cell Discovery, Vol 10, Iss 1, Pp 1-4 (2024)
Externí odkaz:
https://doaj.org/article/adfef7cf3407496cb765057c87378a94
Autor:
Zhihao Xie, Chang Liu, Chengyue Sun, Yanyu Lu, Shiyi Wu, Yilin Liu, Qi Wang, Yalan Wan, Yikang Wang, Meng Yu, Lingchao Meng, Jianwen Deng, Wei Zhang, Zhaoxia Wang, Chunxia Yang, Yun Yuan, Zhiying Xie
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 15, Iss 1, Pp 98-111 (2024)
Abstract Background We aimed to analyse genome‐wide transcriptome differences between Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients and identify biomarkers that correlate well with muscle magnetic resonance imaging
Externí odkaz:
https://doaj.org/article/fa65f1eaa6a34093b993df6f469c9b0f
Autor:
Chang Liu, Yanyu Lu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Xinchao Cheng, Fangfang Niu, Yawen Zhao, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Yun Yuan, Zhiying Xie
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e28020- (2024)
Most pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, mo
Externí odkaz:
https://doaj.org/article/30c3de73fd56453ba19bca83f52730ad
Autor:
Hui Wang, Yilei Zheng, Jiaxi Yu, Lingchao Meng, Wei Zhang, Daojun Hong, Zhaoxia Wang, Yun Yuan, Jianwen Deng
Publikováno v:
Neurobiology of Disease, Vol 190, Iss , Pp 106391- (2024)
CGG repeat expansion in NOTCH2NLC is the genetic cause of neuronal intranuclear inclusion disease (NIID). Previous studies indicated that the CGG repeats can be translated into polyglycine protein (N2CpolyG) which was toxic to neurons by forming intr
Externí odkaz:
https://doaj.org/article/f3416ec7f874433e9f18c16017094b5e
Autor:
Tongling Liufu, Haiyan Yu, Jiaxi Yu, Meng Yu, Yue Tian, Yichun Ou, Jianwen Deng, Guogang Xing, Zhaoxia Wang
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
Introduction: Mitochondrial disease is a spectrum of debilitating disorders caused by mutations in the mitochondrial DNA (mtDNA) or nuclear DNA that compromises the respiratory chain. Mitochondrial 3243A>G (m.3243 A>G) is the most common mutation sho
Externí odkaz:
https://doaj.org/article/e3a7952623c14f37874128394d6bcf4c
Autor:
Yalan Wan, Qi Wang, Yiming Zheng, Meng Yu, Zhiying Xie, Chen Ling, Lingchao Meng, Jiaxi Yu, Yilei Zheng, Yikang Wang, Wenhao Zhang, Chang Liu, Yawen Zhao, Yun Yuan, Jianwen Deng, Qiang Gang, Zhaoxia Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Abstract Objective The objective of this research was to study the clinical features, genetic characteristics, muscle imaging, and muscle pathological changes of a cohort of Chinese patients with mutations in the valosin‐containing protein (VCP) ge
Externí odkaz:
https://doaj.org/article/0ad96cc8bbf54455b1fcdd9b5c82fd5b
Autor:
Takayoshi Matsumura, Haruhito Totani, Yoshitaka Gunji, Masahiro Fukuda, Rui Yokomori, Jianwen Deng, Malini Rethnam, Chong Yang, Tze King Tan, Tadayoshi Karasawa, Kazuomi Kario, Masafumi Takahashi, Motomi Osato, Takaomi Sanda, Toshio Suda
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
The transcription factor MYB has been shown to regulate haematopoietic stem cells but there could be lineage specific enhancers. Here, using lineage tracing and single cell sequencing the authors characterise a Myb −68 enhancer that regulates the d
Externí odkaz:
https://doaj.org/article/f7b34ab06eff47b1947cf8949cde1d29
Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4‐myopathy
Autor:
Qi Wang, Meng Yu, Wei Zhang, Qiang Gang, Zhiying Xie, Jin Xu, Chao Zhou, Depeng Wang, Lingchao Meng, He Lv, Zhirong Jia, Jianwen Deng, Yun Yuan, Zhaoxia Wang
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1813-1819 (2022)
Abstract PLIN4‐myopathy is a recently identified autosomal dominant muscular disorder caused by the coding 99 bp repeat expansion in PLIN4, presenting with distal or proximal weakness. Here, we report one family and one sporadic case of adult‐ons
Externí odkaz:
https://doaj.org/article/5c19fc0616ef4680b837d16330408730
Autor:
Kang Du, Xujun Chu, Yuwei Tang, Xutong Zhao, Meng Yu, Yiming Zheng, Jianwen Deng, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan, Lingchao Meng
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1059-1068 (2022)
Abstract Objective The present study was intended to analyze the characteristics of myelinated nerve fibers density (MFD) of transthyretin amyloid polyneuropathy (ATTR‐PN) and other similar neuropathies. Methods A total of 41 patients with ATTR‐P
Externí odkaz:
https://doaj.org/article/a3d232d32a7241818bcc8079c28add97
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-15 (2022)
Abstract Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the 5’ untranslated region has been found in neuronal intranuclear i
Externí odkaz:
https://doaj.org/article/267dabd3d2f64d428976965d657aa313