典型文献
Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy
文献摘要：
First reported by Bietti in 1937(Bietti,1937),Bietti crystalline cor-neoretinal dystrophy(BCD,OMIM 210370)is a rare,autosomal recessively inherited progressive retinal disease.The disease is more common in Asian populations,particularly in Chinese and Jap-anese(Li et al.,2004).The prevalence of BCD is estimated at 1 in 67,000,representing around only 21,000 individuals in China(Ng et al.,2016).CYP4V2 was identified as the disease-causing gene in 2004.It encodes a member of the cytochrome P450 family 4,which is involved in fatty acid metabolism(Li et al.,2004).Although the pathogenesis of BCD is very complex and has not been fully eluci-dated,previous studies suggested that BCD pathology may be closely connected to dysregulated lipid metabolism(Lee et al.,2001;Lai et al.,2010;Hata et al.,2018;Qu et al.,2020;Zhang et al.,2020).Expression of CYP4V2 was observed in most human tis-sues,such as the heart,brain,placenta,lung,liver,skeletal muscle,kidney,pancreas,retina,and lymphocytes(Li et al.,2004).Therefore,a systems interrogation into lipid metabolic alterations based on serum can help to better understand the systemic pathology caused by CYP4V2 gene defect.
文献关键词：
中图分类号：
作者姓名：
Shijing Wu;Sin Man Lam;Huajin Li;Binhua Jiang;Zixi Sun;Tian Zhu;Xing Wei;Xuan Zou;Guanghou Shui;Ruifang Sui
作者机构：
Department of Ophthalmology,State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Molecular Developmental Biology,Institute of Genetics and Developmental Biology,Chinese Academy of Sciences,Beijing 100101,China;Department of Ophthalmology,The First Affiliated Hospital of Fujian Medical University,Fuzhou,Fujian 350004,China;LipidALL Technologies Company Limited,Changzhou,Jiangsu 213022,China
文献出处：
引用格式：
[1]Shijing Wu;Sin Man Lam;Huajin Li;Binhua Jiang;Zixi Sun;Tian Zhu;Xing Wei;Xuan Zou;Guanghou Shui;Ruifang Sui-.Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy)[J].遗传学报,2022(04):380-383
A类：
plasmalogen,phosphatidylethanolamines,corneoretinal,neoretinal,recessively,Jap,anese,CYP4V2
B类：
Targeted,lipidomics,reveals,storage,triacylglycerols,major,systemic,aberrations,Bietti,crystalline,dystrophy,First,reported,by,BCD,OMIM,rare,autosomal,inherited,progressive,disease,more,common,Asian,populations,particularly,Chinese,Li,prevalence,estimated,representing,around,only,individuals,China,Ng,was,identified,causing,It,encodes,member,cytochrome,P450,family,which,involved,fatty,acid,metabolism,Although,pathogenesis,very,complex,has,not,been,fully,eluci,dated,previous,studies,suggested,that,pathology,may,closely,connected,dysregulated,Lee,Lai,Hata,Qu,Zhang,Expression,observed,most,human,tis,sues,such,heart,brain,placenta,lung,liver,skeletal,muscle,kidney,pancreas,lymphocytes,Therefore,systems,interrogation,into,metabolic,alterations,serum,can,help,better,understand,caused,defect
AB值：
0.561566
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