The Cumulative Effects of the &lt;b&gt;&lt;i&gt;MYH7&lt;/i&gt;&lt;/b&gt;-V878A and &lt;b&gt;&lt;i&gt;CACNA1C&lt;/i&gt;&lt;/b&gt;-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy

Wang, Bo; Guo, Ruiqi; Wang, Jing; Fan, Yuqi; Zuo, Li; Liu, Ying; Shao, Hong; Jiang, Yan; Sun, Chao; Xu, Lei; Zhang, Yanmin; Wang, Lifeng; Liu, Liwen

doi:10.1159/000478900

Cited by 13 publications

(8 citation statements)

References 25 publications

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“…70 Specific surface area and pore size were obtained by the Brunauer-Emmett-Teller (BET) nitrogen adsorption measurement using ASAP 2020 Surface Area and Porosity Analyzer (Micromeritics, Norcross, GA, USA). 31 The capacitance values were calculated from GCD curves 105 according to the following equations 30 half-cell: The element compositions of electrode materials as prepared were determined by an energy dispersive X-ray spectroscopy (EDS, Hitachi SU8000, Japan).…”

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confidence: 99%

A reduced graphene oxide modified metallic cobalt composite with superior electrochemical performance for supercapacitors

Liu

Wang

et al. 2015

RSC Adv.

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In this work, a unique reduced graphene oxide modified metallic cobalt (rGO/Co) composite, in which Co nanoparticles in situ anchored on rGO sheets, had been synthesized via a facile one pot co-precipitation approach. Such a composite exhibited an impressive performance when used in (asymmetric) supercapacitors. For comparison purposes, pure rGO and Co were also prepared and investigated. Microscopic observation techniques, nitrogen sorption analysis and electrochemical methods et al. were 10 used to characterize the materials' properties. The physical characterizations revealed rGO/Co possessed a "particle on sheet" structure with a "point to face" electronic contact between these two components, and the size of Co was much smaller than pure Co due to the geometric confinement of rGO, as well as a larger Brunauer-Emmett-Teller (BET) surface area resulted from the structure synergistic effect for alleviating the agglomeration of each component. Remarkably, the rGO/Co composite displayed the best 15 electrochemical performances among the three synthesized samples with the capacity as high as 882.7 F·g -1 at a current density of 2 A·g -1 and presented a high rate capability as well. Moreover, a asymmetric supercapacitor using rGO/Co as positive active materiel and activated carbon (AC) as negative active materiel has also been fabricated and tested in the potential window ranged between 0-1.6 V, which had been demonstrated could achieve a maximum energy density of 40.7 Wh·kg -1 at a power density of 20 1585.0 W·kg -1 as well as excellent rate capability and outstanding cycling durability. 65 Among various carbonaceous materials, graphene, a rising star, has attracted many attentions because of its extraordinary electrical stability, large surface area, superior mechanical properties, and good electrochemical stability. [23][24][25][26] Nevertheless, on the one hand, the previous reported research of such kind of 70 composites were in generl in a symmetric capacitor system resulted in a limited improvement in energy density; on the other The prepared rGO/Co//AC asymmetric supercapacitor displayed good electrochemical performances, which achieved a maximum energy density of 40.7 Wh·kg -1 at a power density of 1585.0 W·kg -1 .

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confidence: 99%

A reduced graphene oxide modified metallic cobalt composite with superior electrochemical performance for supercapacitors

Liu

Wang

et al. 2015

RSC Adv.

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“…GO terms. Calcium channel, voltage-dependent, L type, alpha 1C subunit ( CACNA1C ) gene encodes an important subunit in calcium channels, which is related to heart disease and psychosis [ 48 ]. In our study, this gene was categorized into arrhythmogenic right ventricular cardiomyopathy, calcium signalling pathway, cardiac muscle contraction, Alzheimer's disease etc.…”

Section: Resultsmentioning

confidence: 99%

The muscle development transcriptome landscape of ovariectomized goat

Zhang¹,

Xu²,

Liu³

et al. 2017

R. Soc. open sci.

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In practical production, almost all rams and about 50% of ewes are used to fatten. Researchers have proved that ewe ovariectomy could improve the productivity significantly, but the specific molecular mechanism is still unknown. In this study, five independent cDNA libraries (three and two from ovariectomized and normal ewe longissimus dorsi samples, respectively) were constructed to thoroughly explore the global transcriptome, further to reveal how the ovariectomized ewes influence muscle development by Illumina2000 sequencing technology. As a result, 205 358 transcripts and 118 264 unigenes were generated. 15 490 simple sequence repeats (SSRs) were revealed and divided into six types, and the short repeat sequence SSR (monomers, dimers, trimers) was the domain type. Single nucleotide polymorphism analysis found that the number of transition was greater than the number of transversion among the five libraries. Furthermore, 1612 differently expressed genes (DEGs) (Log2fold_change > 1 and p < 0.05) were revealed between ovariectomized and normal ewe groups, in which 903 genes were expressed commonly in the two groups, and 288 and 421 genes were uniquely expressed in normal and ovariectomized ewe groups, respectively. Gene Ontology (GO) analysis categorized all unigenes into 555 GO terms and 56 DEGs were significantly categorized into 43 GO terms (p < 0.05). KEGG enrichment analysis annotated 12 976 genes (containing 137 DEGs) to 86 pathways, among them 24 and 11 DEGs involved in development and reproduction associated pathways, respectively. To validate the reliability of the RNA-seq analysis, 22 candidate DEGs were randomly selected to perform quantitative real-time polymerase chain reaction. The result showed that 9 and 1 genes were significantly and approximately significantly expressed in control and treatment group, respectively, and the results of RNA-seq are believable in this study. Overall, these results were helpful for elucidating the molecular mechanism of muscle development of ovariectomized animals and the application of female ovariectomy in fattening.

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“…The subjects carrying this p.V 878A mutation showed moderate or mild HCM phenotypes. 27) The p.V878L variant also has been reported by GeneDx (https://www.ncbi.nlm.nih.gov/clinvar/variation/18 1197), and the database says it is a variant of unknown significance. We found that it is a deleterious variant.…”

Section: Discussionmentioning

confidence: 99%

<i>MYH7</i> Gene-Related Mutation p.V878L Identified in a Chinese Family with Hypertrophic Cardiomyopathy

Wang

Han

et al. 2019

Int. Heart J.

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Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiovascular diseases and possesses a high risk for sudden cardiac death. Although mutations in more than 20 genes have been reported to be associated with HCM thus far, the genetic backgrounds of most HCM patients are not fully understood. We performed a genetic analysis in a Chinese family that presented with HCM using next-generation sequencing (NGS). Clinical data, family histories, and blood samples were collected from the proband and family members. Five patients showed typical clinical symptoms of HCM. One subject was the victim of sudden cardiac death. By NGS, we determined that these subjects with HCM symptoms carried a missense heterozygous genetic mutation c.2632C>A (p.V878L) in the myosin heavy chain 7 (MYH7) gene with an autosomal dominant pattern of inheritance. Individuals without this mutation showed no symptoms or cardiac structural abnormalities related to HCM. Bioinformatics evaluation predicted this mutant as "damaging" and "disease causing". Additionally, sequence alignment showed that this mutant is located in an evolutionarily conserved region of MYH 7 in multiple species. Our results describe a potentially pathogenic mutation associated with HCM, which may extend the spectrum of HCM phenotypes related to MYH7 gene mutations.

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The Cumulative Effects of the <b><i>MYH7</i></b>-V878A and <b><i>CACNA1C</i></b>-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy

Cited by 13 publications

References 25 publications

A reduced graphene oxide modified metallic cobalt composite with superior electrochemical performance for supercapacitors

A reduced graphene oxide modified metallic cobalt composite with superior electrochemical performance for supercapacitors

The muscle development transcriptome landscape of ovariectomized goat

<i>MYH7</i> Gene-Related Mutation p.V878L Identified in a Chinese Family with Hypertrophic Cardiomyopathy

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