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- 저자 : Minglan Yang (검색결과 2 건)
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Minglan Yang,Ying Dong,Jianqing Tian,Li Yan,Yawen Chen,Huiying Qiu,Wei Liu,Yaomin Hu 한국유전학회 2020 Genes & Genomics Vol.42 No.9
Background Gitelman syndrome (GS) is a tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis, which is caused by mutations in SLC12A3 gene. Objective The objective of this study was to investigate the mutation of SLC12A3 gene in a pedigree with GS and analyzed the clinical manifestations. Methods Next-generation sequencing and Sanger sequencing were performed to explore the mutations of SLC12A3 gene in a GS pedigree that included a 59-year-old male GS patient and a total of 11 family members within three generations. Results A novel compound heterozygous mutation of SLC12A3 gene (c.1712T>C in exon14 and c.2986_2987ins GCT in exon26) was identifed by genetic testing in the proband. Moreover, we demonstrated that two brothers shared the same heterozygous mutation with the proband, but only one brother had the GS related symptoms. His nephew was the carrier of one mutation (c.1712T>C), and one of his brother, his sister and niece were carriers of the other (c.2986_2987ins GCT). Conclusions This is the frst study to report the novel pathogenic compound heterozygous mutation of SLC12A3 gene in GS. Our result further supports the lack of phenotype–genotype correlations in GS. Further functional studies are required to investigate pathophysiologic mechanisms of GS.
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Yang Junru,Song Chuanjuan,Wang Minglan,Zhang Yuekan,Sun Jing 대한기계학회 2016 JOURNAL OF MECHANICAL SCIENCE AND TECHNOLOGY Vol.30 No.1
The interface crack propagation problem in the cermet cladding material structure was studied. A comparative propagation propertyparameter (CP) suitable to judge the propagation direction of the interface crack in the cermet cladding material structure was proposed. The interface crack propagation criterion was established. Theoretical models of the CPs for the crack normal to and dwelling on theinterface deflecting separately into the clad, the interface and the substrate were built, and the relations between the CPs and the loadaction angle, the clad thickness ratio and the load were investigated with an example. The research results show that, under the researchconditions, the interface crack will more easily propagate into the clad layer than into the substrate.
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