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

来源：

Journal of Translational Medicine | / 12卷

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

共 11 条

[1] Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients
Zhang, Rong
Liu, Yang
Xue, Yang
Wang, Yinan
Wang, Xinwen
Shi, Songtao
Cai, Tao
Wang, Qintao
JOURNAL OF TRANSLATIONAL MEDICINE, 2014, 12
[2] Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis
Han, Beibei
Zhang, Xinglian
Liu, Qiang
Chen, Xixue
Zhu, Xuejun
ACTA DERMATO-VENEREOLOGICA, 2007, 87 (05) : 387 - 389
[3] Novel Compound Heterozygous Mutations of ECM1 in a Chinese Family with Lipoid Proteinosis
Wu, Wei
Shi, Jian-Qiang
Li, Ding
Li, Fang-Gu
Cai, Yan-Xia
Luo, Di-Qing
DERMATOLOGICA SINICA, 2019, 37 (02) : 82 - 85
[4] Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1
Youssefian, Leila
Vahidnezhad, Hassan
Daneshpazhooh, Maryam
Abdollahzadeh, Sina
Talari, Hamidreza
Khoshnevisan, Alireza
Chams-Davatchi, Cheyda
Mobasher, Roozbeh
Li, Qiaoli
Uitto, Jouni
Akhondzadeh, Shahin
Tabrizi, Mina
EXPERIMENTAL DERMATOLOGY, 2015, 24 (03) : 220 - 222
[5] Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis
Samdani, Azam J.
Azhar, Abid
Shahid, Syed M.
Nawab, Syeda N.
Shaikh, Rozeena
Qader, Shah A.
Mansoor, Qaisar
Khoso, Bahram K.
Ismail, Muhammad
JOURNAL OF DERMATOLOGICAL CASE REPORTS, 2010, 4 (04): : 66 - 70
[6] A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient
Izadi, F.
Mahjoubi, F.
Farhadi, M.
Tavakoli, M. M.
Samanian, S.
GENETICS AND MOLECULAR RESEARCH, 2012, 11 (04) : 3955 - 3960
[7] Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene
Luo, Xiao-Yan
Li, Qiu
Tan, Qi
Yang, Huan
Xiang, Juan
Miao, Jing-Kun
Wang, Hua
JOURNAL OF DERMATOLOGY, 2016, 43 (07) : 804 - 807
[8] Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis
Zhu, Tieshan
Bai, Xiao
Ma, Donglai
Yang, Tao
CLINICA CHIMICA ACTA, 2021, 512 : 122 - 126
[9] A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature
Rey, Linda K.
Kohlhase, Juergen
Moellenhoff, Katrin
Dekomien, Gabriele
Epplen, Joerg T.
Hoffjan, Sabine
MOLECULAR SYNDROMOLOGY, 2016, 7 (01) : 26 - 31
[10] Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh
Khan, Md. Azraf Hossain
Abu Reza, Md.
Sharaf, Ibrahim Md.
Alam, Md. Jahangir
Rahman, Md. Mostafizur
Chandra, Pampa
Anwar, Kazi Selim
Salam, Md. Abdus
PAKISTAN JOURNAL OF MEDICAL SCIENCES, 2023, 39 (04) : 1212 - 1215

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