首站-论文投稿智能助手
典型文献
R158Q and G212S,novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome
文献摘要:
The dysfunction of Na+-Cl-cotransporter(NCC)caused by mutations in solute carrier familyl2,member 3 gene(SLC12A3)primarily causes Gitelman syndrome(GS).In identifying the pathogenicity of R158Q and G212S variants of SLC12A3,we evaluated the pathogenicity by bioinformatic,expression,and localization analysis of two variants from a patient in our cohort The prediction of mutant protein showed that p.R158Q and p.G212S could alter protein's three-dimensional structure.Western blot showed a decrease of mutant Ncc.Immunofluorescence of the two mutations revealed a diffuse positive staining below the plasma membrane.Meanwhile,we conducted a compound heterozygous model—Ncc R156Q/G210S mice corresponding to human NCC R158Q/G212S.NccR156Q/G210S mice clearly exhibited typical GS features,including hypokalemia,hypomagnesemia,and increased fractional excretion of K+and Mg2+with a normal blood pressure level,which made NccR156Q/G210S mice an optimal mouse model for further study of GS.A dramatic decrease and abnormal localization of the mutant Ncc in distal convoluted tubules contributed to the phenotype.The hydrochlorothiazide test showed a loss of function of mutant Ncc in NccR156Q/G210S mice.These findings indicated that R158Q and G212S variants of SLC12A3 were pathogenic variants of GS.
文献关键词:
作者姓名:
Zongyue Li;Huixiao Wu;Shuoshuo Wei;Moke Liu;Yingzhou Shi;Mengzhu Li;Ning Wang;Li Fang;Bo Xiang;Ling Gao;Chao Xu;Jiajun Zhao
作者机构:
Department of Endocrinology,Shandong Provincial Hospital,Shandong University,Jinan 250021,China;Shandong Provincial Key Laboratory of Endocrinology and Lipid Metabolism,Jinan 250021,China;Shandong Institute of Endocrine and Metabolic Disease,Jinan 250021,China;Department of Endocrinology,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250021,China
文献出处:
引用格式:
[1]Zongyue Li;Huixiao Wu;Shuoshuo Wei;Moke Liu;Yingzhou Shi;Mengzhu Li;Ning Wang;Li Fang;Bo Xiang;Ling Gao;Chao Xu;Jiajun Zhao-.R158Q and G212S,novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome)[J].医学前沿,2022(06):932-945
A类:
R158Q,G212S,familyl2,Ncc,R156Q,G210S,NccR156Q,Mg2+with,hydrochlorothiazide
B类:
novel,compound,heterozygous,variants,SLC12A3,Gitelman,syndrome,dysfunction,Na+,Cl,cotransporter,NCC,caused,by,mutations,solute,carrier,member,gene,primarily,causes,GS,In,identifying,pathogenicity,evaluated,bioinformatic,expression,localization,analysis,two,from,patient,our,cohort,prediction,mutant,protein,showed,that,could,alter,three,dimensional,structure,blot,decrease,Immunofluorescence,revealed,diffuse,positive,staining,below,plasma,membrane,Meanwhile,conducted,model,mice,corresponding,human,clearly,exhibited,typical,features,including,hypokalemia,hypomagnesemia,increased,fractional,excretion,K+and,blood,pressure,level,which,made,optimal,mouse,further,study,dramatic,abnormal,distal,convoluted,tubules,contributed,phenotype,test,loss,These,findings,indicated,were
AB值:
0.463563
相似文献
Therapeutic effects of the extract of Sancao Formula,a Chinese herbal compound,on imiquimod-induced psoriasis via cysteine-rich protein 61
Wan-jun Guo;Yi Wang;Yu Deng;Lin-yan Cheng;Xin Liu;Ruo-fan Xi;Sheng-jie Zhu;Xin-yi Feng;Liang Hua;Kan Ze;Jian-yong Zhu;Dong-jie Guo;Fu-lun Li-Department of Dermatology,Yueyang Hospital of Integrated Traditional Chinese and Western Medicine,Shanghai University of Traditional Chinese Medicine,Shanghai 200437,China;School of Medicine,Chengdu University,Chengdu 610106,Sichuan Province,China;Institute of Cancer Biology and Drug Discovery,Chengdu University,Chengdu 610106,Sichuan Province,China;Clinical Laboratory Medicine Center,Yueyang Hospital of Integrated Traditional Chinese and Western Medicine,Shanghai University of Traditional Chinese Medicine,Shanghai 200437,China
Implication of a novel truncating mutation in titin as a cause of autosomal dominant left ventricular noncompaction
Xue-Qi DONG;Di ZHANG;Yi QU;Yu-Xiao HU;Chun-Xue YANG;Tao TIAN;Nan XU;Hai-Lun JIANG;Li ZENG;Peng-Yan XIA;Ya-Xin LIU;Rui LIU;Xian-Liang ZHOU-Department of Cardiology,Fuwai Hospital,National Center for Cardiovascular Disease,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China;Department of Echocardiography,Fuwai Hospital,Natio-nal Center for Cardiovascular Disease,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China;Institute of Medicinal Biotechnology,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China;State Key Laboratory of Membrane Biology,Institute of Zoology,Chinese Academy of Science,Beijing,China
Biallelic mutations in spermatogenesis and centrioie-associated 1 like(SPATC1L)cause acephalic spermatozoa syndrome and male infertility
You-Zhu Li;Na Li;Wen-Sheng Liu;Yan-Wei Sha;Rong-Feng Wu;Ya-Ling Tang;Xing-Shen Zhu;Xiao-Li Wei;Xiao-Ya Zhang;Yi-Feng Wang;Zhong-Xian Lu;Fu-Xing Zhang-Reproductive Medicine Center,The First Affiliated Hospital of Xiamen University,Xiamen 361003,China;Intensive Care Unit,Fujian Medical University Xiamen Humanity Hospital,Xiamen 361009,China;Obstetrics and Gynecology Center,Department of Obstetrics and Gynecology,Zhujiang Hospital,Southern Medical University,Guangzhou 510280,China;School of Pharmaceutical Sciences,State Key Laboratory of Cellular Stress Biology,Xiamen University,Xiamen 361102,China;Department of Andrology,United Diagnostic and Research Center for Clinical Genetics,Women and Children's Hospital and School of Medicine,Xiamen University,Xiamen 361005,China;Department of Obstetrics and Gynecology,First Affiliated Hospital of Xiamen University,Xiamen 361003,China;Department of General Surgery,First Affiliated Hospital of Xiamen University,Xiamen 361003,China
Combined insertion of basic and non-basic amino acids at hemagglutinin cleavage site of highly pathogenic H7N9 virus promotes replication and pathogenicity in chickens and mice
Aobaixue Zhou;Jiahao Zhang;Huanan Li;Qiang Xu;Yiqun Chen;Bo Li;Wanying Liu;Guanming Su;Xingxing Ren;Guangjie Lao;Baozheng Luo;Ming Liao;Wenbao Qi-College of Veterinary Medicine,South China Agricultural University,Guangzhou,510642,China;National Avian Influenza Para-reference Laboratory,South China Agricultural University,Guangzhou,510642,China;Gongbei Customs Technology Center,Zhuhai,519000,China;National and Regional Joint Engineering Laboratory for Medicament of Zoonoses Prevention and Control,Guangzhou,510642,China;Key Laboratory of Zoonoses,Ministry of Agriculture,Guangzhou,510642,China;Key Laboratory of Animal Vaccine Development,Ministry of Agriculture,Guangzhou,510642,China;Key Laboratory of Zoonoses Prevention and Control of Guangdong Province,Guangzhou,510642,China;Guangdong Laboratory for Lingnan Modern Agriculture,Guangzhou,510642,China
Nasal delivery of broadly neutralizing antibodies protects mice from lethal challenge with SARS-CoV-2 delta and omicron variants
Jia Lu;Qiangling Yin;Rongjuan Pei;Qiu Zhang;Yuanyuan Qu;Yongbing Pan;Lina Sun;Ding Gao;Cuiqin Liang;Jingwen Yang;Wei Wu;Jiandong Li;Zongqiang Cui;Zejun Wang;Xinguo Li;Dexin Li;Shiwen Wang;Kai Duan;Wuxiang Guan;Mifang Lian;Xiaoming Yang-National Engineering Technology Research Center for Combined Vaccines,Wuhan Institute of Biological Products Co.Ltd.,Wuhan,430070,China;State Key Laboratory for Molecular Virology and Genetic Engineering National Institute for Viral Disease Control and Prevention,Chinese Center for Disease Control and Prevention,Beijing,102206,China;Center for Emerging Infectious Diseases,Wuhan Institute of Virology,Chinese Academy of Sciences,Wuhan,430071,China;CDC-WIV Joint Research Center for Emerging Diseases and Biosafety,Wuhan,430071,China;Institution of Infectious Diseases,Shenzhen Bay Laboratory,Shenzhen,518107,China
Mitochondrial aldehyde dehydrogenase(ALDH2)rescues cardiac contractile dysfunction in an APP/PS1 murine model of Alzheimer's disease via inhibition of ACSL4-dependent ferroptosis
Zhi-yun Zhu;Yan-dong Liu;Yan Gong;Wei Jin;Elena Topchiy;Subat Turdi;Yue-feng Gao;Bruce Culver;Shu-yi Wang;Wei Ge;Wen-liang Zha;Jun Ren;Zhao-hui Pei;Xing Qin-Jiangxi Provincial People's Hospital Affiliated to Nanchang University,Nanchang 330006,China;The Second Department of Cardiology,The Third Hospital of Nanchang,Nanchang 330009,China;University of Wyoming College of Health Sciences,Laramie,WY,USA;State Key Laboratory of Animal Nutrition,College of Animal Science and Technology,China Agricultural University,Beijing 100083,China;Department of General Practice,Xijing Hospital,the Air Force Military Medical University,Xi'an 710032,China;Department of Surgery,Clinic Medical College,Hubei University of Science and Technology,Xianning 437100,China;National Demonstration Center for Experimental General Medicine Education,Hubei University of Science and Technology,Xianning 437100,China;Department of Cardiology and Shanghai Institute of Cardiovascular Diseases,Zhongshan Hospital Fudan University,Shanghai 200032,China;Department of Cardiology,Xijing Hospital,the Air Force Military Medical University,Xi'an 710032,China
Stratifin promotes renal dysfunction in ischemic and nephrotoxic AKI mouse models via enhancing RIPK3-mediated necroptosis
Fang Wang;Jia-nan Wang;Xiao-yan He;Xiao-guo Suo;Chao Li;Wei-jian Ni;Yu-ting Cai;Yuan He;Xin-yun Fang;Yu-hang Dong;Tian Xing;Ya-ru Yang;Feng Zhang;Xiang Zhong;Hong-mei Zang;Ming-ming Liu;Jun Li;Xiao-ming Meng;Juan Jin-Inflammation and Immune Mediated Diseases Laboratory of Anhui Province,Anhui Institute of Innovative Drugs,School of Pharmacy,Anhui Medical University,The Key Laboratory of Anti-inflammatory of Immune Medicines,Ministry of Education,Hefei 230032,China;Department of Pharmacy,Anhui Provincial Hospital,The First Affiliated Hospital of USTC,Division of Life Sciences and Medicine,University of Science and Technology of China,Hefei 230001,China;Hospital of Stomatology,Anhui Medical University,Key Laboratory of Oral Diseases Research of Anhui Province,Hefei 230032,China;Department of Pharmacy,Changzheng Hospital,Naval Medical University,Shanghai 200003,China;Department of Nephrology,Sichuan Academy of Medical Sciences&Sichuan Provincial People's Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu 610072,China;School of Basic Medical Sciences,Anhui Medical University,Hefei 230032,China
Upregulation of wild-type p53 by small molecule-induced elevation of NQO1 in non-small cell lung cancer cells
Hong Yu;Hong-ying Gao;Hua Guo;Gui-zhen Wang;Yi-qing Yang;Qian Hu;Li-jun Liang;Qun Zhao;Da-wei Xie;Yu Rao;Guang-biao Zhou-School of Chinese Materia Medica,Beijing University of Chinese Medicine,Beijing 100029,China;State Key Laboratory of Molecular Oncology,National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100021,China;MOE Key Laboratory of Protein Sciences,School of Pharmaceutical Sciences,MOE Key Laboratory of Bioorganic Phosphorus Chemistry&Chemical Biology,and School of Medicine and Collaborative Innovation Center of Biotherapy,Tsinghua University,Beijing 100084,China;Hubei University of Medicine,Shiyan 442000,China
Sustained over-expression of calpain-2 induces age-dependent dilated cardiomyopathy in mice through aberrant autophagy
Xiao-yun Ji;Dong Zheng;Rui Ni;Jin-xi Wang;Jian-qiang Shao;Zer Vue;Antentor Hinton Jr.;Long-Sheng Song;Guo-Chang Fan;Subrata Chakrabarti;Zhao-liang Su;Tian-qing Peng-International Genome Center,Jiangsu University,Zhenjiang 212013,China;Lawson Health Research Institute,London Health Sciences Centre,London,ON N6A 5W9,Canada;Department of Pathology and Laboratory Medicine,Western University,London,ON N6A 5C1,Canada;Centre of Clinical Laboratory,the First Affiliated Hospital of Soochow University,Suzhou 215006,China;Division of Cardiovascular Medicine,Department of Internal Medicine,Abboud Cardiovascular Research Center,Carver College of Medicine,University of Iowa,Iowa City,IA 52242,USA;CentrallMicroscopy Research Facility,University of Iowa,Iowa City,IA 52242,USA;Department of Molecular Physiology and Biophysics,Vanderbilt University,Nashville,TN 37232,USA;Department of Pharmacology and Systems Physiology,University of Cincinnati College of Medicine,Cincinnati,OH 45267,USA;Department of Medicine,Western University,London,ON N6A 5W9,Canada
机标中图分类号,由域田数据科技根据网络公开资料自动分析生成,仅供学习研究参考。