http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
- 中文 을 입력하시려면 zhongwen을 입력하시고 space를누르시면됩니다.
- 北京 을 입력하시려면 beijing을 입력하시고 space를 누르시면 됩니다.
RISS 인기검색어
- 검색키워드
- 저자 : ( Xu Haiyun ) (검색결과 3 건)
- 무료
- 기관 내 무료
- 유료
-
-
Tang Xiaojun,Xu Wuhen,Song Xiaozhen,Ye Haiyun,Ren Xiang,Yang Yongchen,Zhang Hong,Wu Shengnan,Lan Xiaoping 한국유전학회 2022 Genes & Genomics Vol.44 No.6
Background: Mitochondrial complex I deficiency (MCID) is the most common biochemical defect identified in childhood with mitochondrial diseases, mainly including Leigh syndrome, encephalopathy, macrocephaly with progressive leukodystrophy, hypertrophic cardiomyopathy and myopathy. Objective: To identify genetic cause in a patient with early onset autosomal recessive MCID. Methods: Trio whole-exome sequencing was performed and phenotype-related data analyses were conducted. All candidate mutations were confirmed by Sanger sequencing. Results: Here we report a child of Leigh syndrome presented with global developmental delay, progressive muscular hypotonia and myocardial damage. A missense mutation c.118C > T (p.Arg40Trp) and a previously reported mutation c.1157G > A (p.Arg386His) in NDUFV1 have been identified as compound heterozygous in the patient. The mutation p.Arg386His is closely associated with the impairment of 4Fe-4S domain and this mutation has been reported pathogenic. The c.118C > T mutation has not been reported in ClinVar and HGMD database. In silico protein analyses showed that p.Arg40 is highly conserved in a wide range of species, and the amino acid substitution p.Trp40 largely decreases the stability of NDUFV1. In addition, the mutation has not been detected in the Asian populations and it was predicted to be deleterious by numerous prediction tools. Conclusion: This research expands the mutation spectrum of NDUFV1 and substantially provides an early and accurate diagnosis basis of MCID, which would benefit subsequently effective genetic counseling and prenatal diagnosis for future reproduction of the family.
-
( Zhang Yankui ),( Xu Haiyun ),( Ba Bin ),( Zong Rong ),( Wang Daming ),( Li Xiangzhi ) 한국인터넷정보학회 2019 KSII Transactions on Internet and Information Syst Vol.13 No.5
The existing direct position determinations(DPD) for coherently distributed(CD) sources are mostly applicable for uniform linear array(ULA), which result in a low degree of freedom(DOF), and it is difficult for them to realize the effective positioning in underdetermined condition. In this paper, a novel DPD algorithm for coherently distributed sources based on compressed sensing with a moving nested array is present. In this algorithm, the nested array is introduced to DPD firstly, and a positioning model of signal moving station based on nested array is constructed. Owing to the features of coherently distributed sources, the cost function of compressed sensing is established based on vectorization. For the sake of convenience, unconstrained transformation and convex transformation of cost functions are carried out. Finally, the position coordinates of the distribution source signals are obtained according to the theory of optimization. At the same time, the complexity is analyzed, and the simulation results show that, in comparison with two-step positioning algorithms and subspace-based algorithms, the proposed algorithm effectively solves the positioning problem in underdetermined condition with the same physical element number.
ScienceON연관 검색어 추천
이 검색어로 많이 본 자료
활용도 높은 자료
