Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients

被引:0
|
作者
Rong Zhang
Yang Liu
Yang Xue
Yinan Wang
Xinwen Wang
Songtao Shi
Tao Cai
Qintao Wang
机构
[1] Department of Periodontology,State Key Laboratory of Military Stomatology
[2] School of Stomatology,Department of Stomatology
[3] the Fourth Military Medical University,State Key Laboratory of Military Stomatology
[4] The 309th Hospital of Chinese People’s Liberation Army,Department of Plastic and Burns Surgery
[5] Department of Oral Biology,Center for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry
[6] School of Stomatology,Oral Medicine Research Institute
[7] the Fourth Military Medical University,undefined
[8] Tangdu Hospital,undefined
[9] the Fourth Military Medical University,undefined
[10] University of Southern California,undefined
[11] School of Stomatology,undefined
[12] the Fourth Military Medical University,undefined
关键词
Extracellular matrix protein 1; Lipoid proteinosis; Anaphylaxis; Glucocorticoid; Anaphylaxis; Treatment;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [31] A Recurrent Mutation c.617G>A in the ACVR1 Gene Causes Fibrodysplasia Ossificans Progressiva in Two Chinese Patients
    Sun, Yue
    Xia, Weibo
    Jiang, Yan
    Xing, Xiaoping
    Li, Mei
    Wang, Ou
    Zhang, Huabing
    Hu, Yingying
    Liu, Huaicheng
    Meng, Xunwu
    Zhou, Xueying
    CALCIFIED TISSUE INTERNATIONAL, 2009, 84 (05) : 361 - 365
  • [32] An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance
    Dong, Si-Qi
    Liu, Xiao-Ni
    Yang, Wen-Bo
    Zhou, Yan-Ni
    Wang, Jiu-Cun
    Chen, Xiang-Jun
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2020, 21 (5-6) : 473 - 476
  • [33] Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report
    Chen, Jing
    Ma, Xiaomin
    Zhou, Yulin
    Li, Guimei
    Guo, Qiwei
    BMC PEDIATRICS, 2017, 17
  • [34] Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report
    Jing Chen
    Xiaomin Ma
    Yulin Zhou
    Guimei Li
    Qiwei Guo
    BMC Pediatrics, 17
  • [35] A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
    Lili Liang
    Ruixue Shuai
    Yue Yu
    Wenjuan Qiu
    Linghua Shen
    Shengnan Wu
    Haiyan Wei
    Yongxing Chen
    Chiju Yang
    Peng Xu
    Xigui Chen
    Hui Zou
    Jizhen Feng
    Tingting Niu
    Haili Hu
    Jun Ye
    Huiwen Zhang
    Deyun Lu
    Zhuwen Gong
    Xia Zhan
    Wenjun Ji
    Yongguo Yu
    Xuefan Gu
    Lianshu Han
    Orphanet Journal of Rare Diseases, 16
  • [36] Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation
    Angalena, R.
    Aggarwal, S.
    Phadke, S. R.
    Dalal, A.
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2012, 34 (04) : e7 - e9
  • [37] Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation
    Khoury, Khalil
    Barbar, Elie
    Ainmelk, Youssef
    Ouellet, Annie
    Lavigne, Pierre
    LeHoux, Jean-Guy
    FRONTIERS IN NEUROSCIENCE, 2016, 10
  • [38] A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
    Liang, Lili
    Shuai, Ruixue
    Yu, Yue
    Qiu, Wenjuan
    Shen, Linghua
    Wu, Shengnan
    Wei, Haiyan
    Chen, Yongxing
    Yang, Chiju
    Xu, Peng
    Chen, Xigui
    Zou, Hui
    Feng, Jizhen
    Niu, Tingting
    Hu, Haili
    Ye, Jun
    Zhang, Huiwen
    Lu, Deyun
    Gong, Zhuwen
    Zhan, Xia
    Ji, Wenjun
    Yu, Yongguo
    Gu, Xuefan
    Han, Lianshu
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [39] Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation
    Jaehong Park
    Hyun Su Kim
    Hye Mi Kwon
    Jiah kim
    Soo Hyun Nam
    Na Young Jung
    Ah Jin Lee
    Young Hee Jung
    Sang Beom Kim
    Ki Wha Chung
    Byung-Ok Choi
    Genes & Genomics, 2022, 44 : 1007 - 1016
  • [40] The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln)
    Shalhub, Sherene
    Regalado, Ellen S.
    Guo, Dong-Chuan
    Milewicz, Dianna M.
    JOURNAL OF VASCULAR SURGERY, 2019, 70 (03) : 718 - 723