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您的检索式：作者名="Xiefeng Yang"
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| 1 | CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy显示文摘CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with leukoencephalopathy.However,since only three patients from a single family were reported,it remains unknown whether their clinicopathological features are typical for CGG repeat expansions in LOC642361/NUTM2B-AS1.Here,using repeat-primed-polymerase chain reaction and long-read sequencing,we identify 12 individuals from 3 unrelated families with CGG repeat expansions in LOC642361/NUTM2B-AS1,typically presenting with oculopharyngodistal myopathy.The CGG repeat expansions range from 161 to 669 repeat units.Most of the patients present with ptosis,restricted eye movements,dysphagia,dysarthria,and diffuse limb muscle weakness.Only one patient shows T2-weighted hyperintensity in the cerebellar white matter surrounding the deep cerebellar nuclei on brain magnetic resonance imaging.Muscle biopsies from three patients show a myopathic pattern and rimmed vacuoles.Analyses of muscle biopsies suggest that CGG repeat expansions in LOC642361/NUTM2B-AS1 may deleteriously affect aggrephagic capacity,suggesting that RNA toxicity and mitochondrial dysfunction may contribute to pathogenesis.Our study thus expands the phenotypic spectrum for the CGG repeat expansion of LOC642361/NUTM2B-AS1 and indicates that this genetic variant typically manifests as oculopharyngodistal myopathy with chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions in muscle fibers. | Yan Shi Chunyan Cao Yiheng Zeng Yuanliang Ding Long Chen Fuze Zheng Xuejiao Chen Fanggui Zhou Xiefeng Yang Jinjing Li Liuqing Xu Guorong Xu Minting Lin Hiroyuki Ishiura Shoji Tsuji Ning Wang Zhiqiang Wang Wan-Jin Chen Kang Yang | 2024 | Journal of Genetics and Genomics2024，51，2： | 0 |
| 2 | Nutrient uptake,physiological responses and growth of tobacco(Nicotiana tabacum L.)in soil under composite salt stress显示文摘High soil salinity imposes osmotic stress and ion toxicity in plants,leading to substantial crop yield loss worldwide.Understanding of the quantitative and dynamic physiological responses to composite soil salt stress is limited and needs to be expanded.In this study,physiological,nutritional,and biomass yield parameters of tobacco(Nicotiana tabacum L.)grown in soil with five levels of composite soil salinity(CSS),basal CSS level(control,CK)and 3(T_(1)),6(T_(2)),9(T_(3)),and 12(T_(4))times the basal CSS level,under greenhouse were determined at days 30,60,and 90 after transplanting.Leaf dry biomass significantly(P<0.05)increased at the low salinity levels applied(T_(1) and T_(2))at all three time points,whereas it progressively declined as the CSS level further increased.The leaf physiological and photosynthetic responses were more adversely affected by CSS at the early growth stage(day 30).A path coefficient analysis demonstrated that leaf proline content had the largest direct effect(-0.66),and leaf Cu content had the most significant indirect effect(0.49)on leaf dry biomass of plants.The results suggest that lower CSS levels(T_(1) and T_(2))could stimulate tobacco growth(leaf biomass yield,in particular),and higher leaf proline and Cu levels at the early growth stage may potentially increase the ability of tobacco plants to withstand the adverse effects of salinity,which could be considered for future research and development of salinity management strategies. | Jian CUI Dongrui YAO Jing MA Xiefeng YE Ying PENG Jiaqian SONG Jinfeng LI Yajun CHANG John YANG Zhen ZHANG Xueli LI Xiaojing LIU Khalil KARIMAN | 2022 | Pedosphere2022，32，6： | 0 |
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