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37篇 您的检索式:作者名="Shi DR"
    题名 作者 年代 出处 被引量
1Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature显示文摘Steroid 5β-reductase [aldo-keto reductase family 1 member D1(AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. There is still limited experience regarding the treatment of this disease. We describe an infant who presented with hyperbilirubinemia and coagulopathy but normal bile acid and γ-glutamyltransferase. Gene analysis was performed using genomic DNA from peripheral lymphocytes from the patient, his parents, and his elder brother. The patient was compound heterozygous for c.919C>T in exon 8 and exhibited a loss of heterozygosity of the AKR1D1 gene, which led to an amino acid substitution of arginine by cysteine at amino acid position 307(p.R307C). Based on these mutations, the patient was confirmed to have primary 5β-reductase deficiency. Ursodeoxycholic acid(UDCA) treatment did not have any effect on the patient. However, when we changed to chenodeoxycholic acid(CDCA) treatment, his symptoms and laboratory tests gradually improved. It is therefore crucial to supplement with an adequate dose of CDCA early to improve clinical symptoms and to normalize laboratory tests.Hui-Hui Wang Fei-Qiu Wen Dong-Ling Dai Jian-She Wang Jing Zhao Kenneth DR Setchell Li-Na Shi Shao-Ming Zhou Si-Xi Liu Qing-Hua Yang 2018World Journal of Gastroenterology2018,24,35:3
2Inhibition of the interferon- inducible protein kinase PKR by HCV E2 protein显示文摘Taylor DR Shi ST Romano PR 1999Science1999,285,:1
3Identification of apolipo- protein D as a cardioprotective gene using a mouse model of lethal atherosclerotic coronary artery disease显示文摘Tsukamoto K Mani DR Shi J 2013Proc Natl Acad Sci USA2013,110,17:1
4Study of prognostic predictors for non- small cell lung cancer显示文摘Fu XL Zhu XZ Shi DR 1999Lung Cancer1999,23,2:1
5Spatial and temporal expression pattern of a novel gene in the frog Xenopus laevis:correlations with adult intestinal epithelial differentiation during metamorphosis显示文摘Buchholz DR Ishizuya-Oka A Shi YB 2004Gene Expr Patterns2004,4,3:1
6Spatial and temporal expression pattern of a novel gene in the frog Xenopus laevis:correlations with adult in testinal epithelial differentiation during metamorphosis显示文摘Buchholz DR Ishizuya-Oka A Shi YB 2004Gene Expr Patterns2004,4,3:1
7Specifically progressive deficits of brain functional marker in amnestic type mild cognitive impairment显示文摘Bai F Watson DR Shi Y 2011PLoS One2011,6,24:1
8Expression of anaplastic lymphoma kinase in soft tissue tumors: an immunohistochemical andmolecular study of 249 cases显示文摘Li XQ Hisaoka M Shi DR 2004Hum Pathol2004,35,6:1
9Preferential Humoral Immune Response in Prostate Cancer to Cellular Proteins p90 and p62 in a Panel of Tumor-Associated Antigens 显示文摘Shi FD Zhang JY Liu DR 2005Prostate2005,63,3:1
10Study of prognostic predictors for non small cell lung cancer 显示文摘Fu XL Zhu XZ Shi DR 1999Lung Cancer1999,23,2:1
11Recombinant protein expression in Pichia pastoris 显示文摘Cregg JM Cereghino JL Shi J Higgins DR 2000Molecular Biotechnology2000,,:1
12Inhibition of the interferon-inducible protein kinase PKR by HCV E2 protein显示文摘Taylor DR Shi ST Romano PR 1999Science1999,285,5424:1
13Simple sequence re-peat-based consensus linkage map of Bombyx mori显示文摘Miao XX Xu SJ Li MH Li MW Huang JH Dai FY Marino SW Mills DR Zeng P Mita K Jia SH Zhang Y Liu WB Xiang H Guo QH Xu AY Kong XY Lin HX Shi YZ Lu G Zhang X Huang W Yasukochi Y Sugasaki T Shimada T Nagaraju J Xiang ZH Wang SY Goldsmith MR Lu C Zhao GP Huang YP 2005Proc Natl Acad Sci USA2005,102,16:1
14Specifically progressive deficits of brain functional marker in amnestic type mild cognitive impairment显示文摘Bai F Watson DR Shi Y 2011PLoS One2011,6,24:1
15Cryo-EM structure of the DNA-dependent protein kinase catalytic subunit at subnauometer resolution reveals alpha helices and insight into DNA binding显示文摘Williams DR Lee KJ Shi J 2008Structure2008,16,3:1
16An Efficient Protocol for Anonymous and Fair Document Exchange显示文摘Dr N Zhang Q Shi 2003Computer Network Journal Elsevier Science Publisher2003,41,1:1
17Focused evolution of HIV-1 neu- tralizing antibodies revealed by structures and deep sequen- cing显示文摘Wu X Zhou T Zhu J Zhang B Georgiev I Wang C Chen X Longo NS Louder M MeKee K O'Dell S Perfet- to S Schmidt SD Shi W Wu L Yang Y Yang ZY Yang Z Zhang Z Bonsignori M Crump JA Kapiga SH Sam NE Haynes BF Simek M Burton DR Koff WC Doria- Rose NA Connors M NISC Comparative Sequencing Pro- gram Mullikin JC Nabel GJ Roederer M Shapiro L Kwong PD Mascola JR 2011Science2011,333,6049:1
18Study of prognostic predictors for non-small cell lung cancer 显示文摘Fu XL Zhu XZ Shi DR 1999Lung Cancer1999,23,2:1
19Three new diterpenoids from Leonurus japonieus 显示文摘Liu ZK Wu DR Shi YM 2014Chin Chem Lett2014,25,:1
20Inhibition of the interferon -inducible protein kinase PKR by HCV E2 protein 显示文摘Taylor DR Shi ST Romano PR 1999Science1999,285,5424:1
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