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Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy.

Xiafei Dai, Chenqing Zheng, Xuepin Chen, Yibin Tang, Hongmei Zhang, Chao Yan, Huihui Ma, Xiaoping Li,

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: ... Read more >>

Hum Genome Var (Human genome variation)
[2019, 6:42]

Cited: 1 time

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Identification of potential candidate genes and pathways in atrioventricular nodal reentry tachycardia by whole-exome sequencing.

Rong Luo, Chenqing Zheng, Hao Yang, Xuepin Chen, Panpan Jiang, Xiushan Wu, Zhenglin Yang, Xia Shen, Xiaoping Li,

<h4>Background</h4>Atrioventricular nodal reentry tachycardia (AVNRT) is the most common manifestation of paroxysmal supraventricular tachycardia (PSVT). Increasing data have indicated familial clustering and participation of genetic factors in AVNRT, and no pathogenic genes related to AVNRT have been reported.<h4>Methods</h4>Whole-exome sequencing (WES) was performed in 82 patients with AVNRT and 100 controls. ... Read more >>

Clin Transl Med (Clinical and translational medicine)
[2020, 10(1):238-257]

Cited: 1 time

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Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2.

Xuepin Chen, Hui Peng, Chenqing Zheng, Hongmei Zhang, Chao Yan, Huihui Ma, Xiafei Dai, Xiaoping Li,

Arrhythmogenic right ventricular cardiomyopathy (ARVC) presents as the progressive fibrofatty replacement of the cardiomyocytes particularly in the right ventricular wall. Here, we report two cases with ARVC. In family A, the proband carries a Desmoglein2 (DSG2) gene complex heterozygous mutation NM_001943.4:c.146G>A/p.(Arg49His)and NM_001943.3:c.1592T>G/p.(Phe531Cys). In family B, the proband carries a homozygous ... Read more >>

Hum Genome Var (Human genome variation)
[2019, 6:38]

Cited: 2 times

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Myocardial caspase-3 and NF-κB activation promotes calpain-induced septic apoptosis: The role of Akt/eNOS/NO pathway.

Rong Luo, Xuepin Chen, Huihui Ma, Chao Yao, Mingjiang Liu, Jianhong Tao, Xiaoping Li,

<h4>Aims</h4>To explore the potential mechanism that the role of the Akt/eNOS/NO pathway in calpain-induced caspase-3 and NF-κB activation during septic apoptosis.<h4>Main methods</h4>Septic rats were stimulated by LPS (8 mg/kg, i.p.). Myocardial calpain, caspase-3, NO, TNF-α and IL-1β levels were detected by ELISA. The levels of Akt/p-Akt, eNOS/p-eNOS, iNOS proteins and number ... Read more >>

Life Sci (Life sciences)
[2019, 222:195-202]

Cited: 4 times

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Evaluating the impacts of incubation procedures on estimated Q10 values of soil respiration

Chen, Tang, Jiang, Li, Chen, Fang,

A reliable determination of the response of soil organic carbon decomposition to temperature is critical in the context of global warming. However, uncertainties remain in estimated temperature sensitivity of soil respiration, which may be partly due to different experimental conditions. To investigate the possible effects of laboratory incubation procedures on ... Read more >>

Soil Biol Biochem (Soil biology & biochemistry.)
[2010, 42(12):2282-2288]

Cited: 11 times

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