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- 저자 : Xiuzhen Lu (검색결과 2 건)
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Wen Zhang,Ruizhu Lin,Zhikun Lu,Huiying Sheng,Yi Xu,Xiuzhen Li,Jing Cheng,Yanna Cai,Xiaojian Mao,Li Liu 대한소아소화기영양학회 2020 Pediatric gastroenterology, hepatology & nutrition Vol.23 No.6
Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion: The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.
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Synthesis and Applications of Two-Dimensional Hexagonal Boron Nitride in Electronics Manufacturing
Jie Bao,Kjell Jeppson,Michael Edwards,Yifeng Fu,Lilei Ye,Xiuzhen Lu,Johan Liu 대한금속·재료학회 2016 ELECTRONIC MATERIALS LETTERS Vol.12 No.1
In similarity to graphene, two-dimensional (2D) hexagonal boronnitride (hBN) has some remarkable properties, such as mechanicalrobustness and high thermal conductivity. In addition, hBN has superbchemical stability and it is electrically insulating. 2D hBN has beenconsidered a promising material for many applications in electronics,including 2D hBN based substrates, gate dielectrics for graphenetransistors and interconnects, and electronic packaging insulators. Thispaper reviews the synthesis, transfer and fabrication of 2D hBN films,hBN based composites and hBN-based van der Waals heterostructures. In particular, this review focuses on applications in manufacturingelectronic devices where the insulating and thermal properties of hBNcan potentially be exploited. 2D hBN and related composite systems areemerging as new and industrially important materials, which couldaddress many challenges in future complex electronics devices and systems.
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