导师姓名： 李明 专业代码： 100206
性别： 男 专业名称： 皮肤病与性病学
培养单位： 附属新华医院 三级学科/
专业领域：
导师类型： 博士生导师 专业学位导师： 兼
联系方式： 上海市杨浦区控江路1665号新华医院皮肤科Email:liming01@xinhuamed.com.cn
邮编： 200092 邮箱地址： liming01@xinhuamed.com.cn

研究方向 (点击浏览详细信息)
遗传性皮肤病致病基因定位与克隆及发病机制研究
遗传性皮肤病基因诊断与产前基因诊断
遗传性皮肤病治疗疗效及机制研究

社会任职
上海市医师协会皮肤科医师分会委员
中国康复医学会皮肤康复专业委员会委员儿童皮肤病康复学组副组长
上海市康复医学会皮肤科分会委员
中国康复医学会皮肤康复专业委员会委员
中国医师协会皮肤皮肤科医师分会罕见病遗传病专业委员会副主任委员
上海市医学会皮肤性病学分会委员兼秘书
中国妇幼保健协会儿童变态反应专委会常委
中国疾病控制与预防学会皮肤病控制与预防专业委员会委员
中国罕见皮肤病联盟副主任委员
上海市遗传学会遗传与分子诊断专委会委员
中华医学会皮肤性病学分会遗传学组委员
上海市遗传学会遗传与分子诊断专委会委员
上海市医学会皮肤性病学分会儿童与遗传学组组长
《中华医学遗传学杂志》通讯编委
上海市药理学会皮肤药理分会委员

科研项目 项目编号项目名称课题来源起止年月批准经费承担职责
** MBTPS1通过S100A7调控皮肤角化及皮肤屏障的分子机制研究 国家自然科学基金面上项目 2021-01~2024-12 56万元 课题负责人
** MBTPS1通过ETFB导致皮肤角化异常的分子机制研究 国家自然科学基金面上项目 2019-01~2022-12 57万元 课题负责人
2018BR22 上海市卫计委优秀学科带头人培养计划 上海市卫计委新百人项目 2018-07~2021-06 45万元 课题负责人
18PJ** 膜结合转录因子肽酶基因变异致皮肤角化异常分子机制研究 上海市科委浦江人才基金项目 2018-07~2020-06 20万元 课题负责人
YG2017MS73 遗传性皮肤病基因诊断新技术研究 上海交通大学医工交叉项目基金 2018-01~2019-12 21万元 课题负责人
KF** 遗传性泛发性色素异常症家系收集与利用 皮肤病学教育部重点实验室开放基金 2017-06~2019-06 1.9万元 课题负责人
KF201703 NF1家系成年男性成员精子质量及NF1基因嵌合突变分析 国家卫生计生委男性生殖与遗传重点实验室开放课题项目 2017-03~2019-02 10万元 课题负责人
** 遗传性角化性皮肤病精准医疗 上海市教委高峰高原计划—“研究型医师”项目 2016-07~2019-09 100万元 课题负责人
** POFUT1基因突变导致色素异常分子机制研究 国家自然科学基金面上项目 2015-01~2018-12 75万元 课题负责人
20**4 蛋白O岩藻糖基转移酶1导致色素异常的机制研究 教育部高等学校博士学科点专项科研基金项目 2014-01~2015-12 4万元 课题负责人
13XJ10023 POFUT1基因突变导致皮肤色素异常的分子机制研究 交大医学院自然科学基金项目 2013-01~2015-12 5万元 课题负责人
S 中国汉族人群中间丝聚蛋白基因突变谱研究 中华医学会-欧莱雅中国人健康皮肤/毛发研究项目 2013-01~2013-12 6万元 课题负责人
12ZR** 中国I型神经纤维瘤病NF1基因突变规律及其大片段缺失基因型-表型研究 上海市自然科学基金项目 2012-06~2015-06 10万元 课题负责人

学术论文 作者论文标题期刊名出版年卷期页码
Cheng R, Liang J, Li Y, Zhang J, Ni C, Yu H, Kong X, Li M （通讯作者）, Yao Z. Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese. Clin Genet. 2020 97(5):770-778.
Li Y, Shen J, Liang J, Zheng L, Chen F, Yao Z, Li M. （通讯作者） Gentamicin induces COL17A1 nonsense mutation readthrough in junctional epidermolysis bullosa. J Dermatol. 2020 47(3):e82-e83.
Li Y, Cheng R, Liang J, Yao Z, Li M （通讯作者） The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence Mol Genet Genomic Med 2020 doi: 10.1002/mgg3.1457
Yu X, Chen L, Yang Z, Gu Y, Zheng W, Wu Z, Li M （通讯作者）, Yao Z. An excellent response to topical therapy of four congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome patients with an increased concentration of simvastatin ointment. J Eur Acad Dermatol Venereol. 2020 34(1):e8-e11.
Hua S, Ding Y, Zhang J, Qian Q, Li M. （通讯作者） Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene. J Dermatol. 2020 doi: 10.1111/1346-8138.15697.
Fuying Chen, Linting Huang, Changcan Li, Jia Zhang, Weiqin Yang, Beibei Zhang, Huaguo Li, Dan Deng, Jianying Liang, Jinwen Shen, Zhirong Yao, Ming Li （通讯作者） Next-generation Sequencing Through Multi-Gene Panel Testing for the Diagnosis of Hereditary Epidermolysis Bullosa in Chinese Population Clin Genet 2020 98(2):179-184.
Chen F, Wang J, Yao Z, Li M. （通讯作者） A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype. Clin Exp Dermatol. 2020 45(4):505-507.
Lv H, Li M （通讯作者）, Cheng R Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis J Dermatol 2020 doi: 10.1111/1346-8138.15581
Wang J, Li Y, Xing L, Zhao M, Zhang S, Li Z, Yao Z, Li M. （通讯作者） Three novel mutations in GPNMB in two pedigrees of Amyloidosis Cutis Dyschromica. Br J Dermatol. 2019 181(6):1327-1329.
Chen F, Zheng L, Li Y, Li H, Yao Z, Li M （通讯作者） Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis Acta Derm Venereol 2019 99(7):695-696.
Wang W, Qin W, Ge H, Kong X, Xie C, Tang Y, Li M. （通讯作者） Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1. Mol Biol Rep. 2019 46(4):4349-4359.
Li Y, Zheng L, Chen F, Yao Z, Li M. （通讯作者） Two Novel Mutations in the ERCC8 Gene in a Patient with Ultraviolet-sensitive Syndrome. Acta Derm Venereol 2019 99(1):117-118.
Zhang Z, Zhang J, Chen F, Zheng L, Li H, Liu M, Li M （通讯作者）, Yao Z. Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation. J Dermatol. 2019 46(11):1014-1018.
Liang J, Li C, Zhang Z, Ni C, Yu H, Li M （通讯作者）, Yao Z. Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome caused by de novo mutation in the DSP gene misdiagnosed as generalized pustular psoriasis and treatment of acitretin with gabapentin J Dermatol. 2019 46(7):622-625
Zhang Z, Zhang J, Chen F, Zheng L, Li H, Liu M, Li M （通讯作者）, Yao Z. Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation. J Dermatol. 2019 46(11):1014-1018.
Yu X, Chen F, Ni C, Zhang G, Zheng L, Zhang J, Li C, Sandilands A, Yao Z, Li M. （通讯作者） A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. J Invest Dermatol. 2018 138(1):230-233.
Yu X, Zhang J, Gu Y, Deng D, Wu Z, Bao L, Li M （通讯作者）, Yao Z. CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol. J Eur Acad Dermatol Venereol 2018 32(7):1209-1213.
Wang J, Li J, Li X, Lei D, Xiao W, Li Z, Zhang S, Li M. （通讯作者） A recurrent mutation in the KRT17 gene responsible for severe steatocystoma multiplex in a large Chinese family. Clin Exp Dermatol 2018 43(2):205-208.
Liang J, Huang P, Li H, Zhang J, Ni C, Wang Y, Shen J, Li C, Kang L, Chen J, Zhang H, Wang Z, Zhang Z, Li M （通讯作者）, Yao Z. Mutations in IL36RN are associated with geographic tongue Hum Genet 2017 136(2):241-252.
Yu X, Zhang J, Xu K, Li M （通讯作者）, Yao Z. Skin involvement as the first symptom of rapidly progressive ALK-positive systemic anaplastic large cell lymphoma. Clin Exp Dermatol. 2017 42(5):539-542.
Yu X, Zhang J, Wu Z, Liu M, Chen R, Gu Y, Li M （通讯作者）, Yao Z. LUMBAR syndrome: A case manifesting as cutaneous infantile hemangiomas of the lower extremity, perineum and gluteal region, and a review of published work. J Dermatol. 2017 44(7):808-812.
Wang J, Zhang J, Li X, Wang Z, Lei D, Wang G, Li J, Zhang S, Li Z, Li M. （通讯作者） A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines Acta Derm Venereol 2017 97(4):530-531.
Wang Y, Cheng R, Lu Z, Guo Y, Yan M, Liang J, Huang P, Li M （通讯作者）, Yao Z. Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes. J Dermatol Sci. 2017 85(3):235-240.
Zhang J, Li M （通讯作者）, Yao Z. Updated review of genetic reticulate pigmentary disorders. Br J Dermatol 2017 177(4):945-959.
Zhang J, Cheng R, Yu X, Sun Z, Li M （通讯作者）, Yao Z. Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population. Photodermatol Photoimmunol Photomed. 2017 33(1):58-63.
Zhang J, Wang Y, Cheng R, Ni C, Liang J, Li M （通讯作者）, Yao Z. Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. Clin Exp Dermatol 2016 41(7):757-60.
Zhang J, Cheng R, Liang J, Ni C, Li M （通讯作者）, Yao Z. Report of a sporadic familial progressive hyper- and hypopigmentation child caused by a novel KITLG mutation. Br J Dermatol. 2016 175(6):1369-1371.
Li H, Li C, Zhang H, Zhang L, Cheng R, Li M, Guo Y, Zhang Z, Lu Z, Zhuang Y, Yan M, Gu Y, Feng X, Liang J, Yu X, Wang H, Yao Z. Effects of lidocaine on regulatory T cells in atopic dermatitis. J Allergy Clin Immunol. 2016 137(2):613-617.e5.
Shen J, Zhang J, Wang Z, Ni C, Li H, Cheng R, Liang J, Li M （通讯作者）, Yao Z. Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother. J Eur Acad Dermatol Venereol. 2016 30(9):1627-1629.
Ni C, Zhang J, Zhang H, Cheng RH, Liang JY, Li CX, Li M （通讯作者）, Yao ZR. A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa. J Eur Acad Dermatol Venereol. 2016 30(3):535-6.
Zhang J, Yan M, Cheng R, Ni C, Liang J, Li M （通讯作者）, Yao Z. A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome. J Eur Acad Dermatol Venereol. 2016 30(11):e159-e161.
Ni C, Yan M, Zhang J, Cheng R, Liang J, Deng D, Wang Z, Li M （通讯作者）, Yao Z. A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. Sci Rep. 2016 6:21815.
Li M （通讯作者）, Wang J, Li Z, Zhang J, Ni C, Cheng R, Yao Z. Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. Eur J Hum Genet. 2016 24(9):1367-70.
Li M （通讯作者）, Li Z, Wang J, Ni C, Sun Z, Wilson NJ, Zhang J, Chen F, Li X, Du X, Yu H, Zhang L, Smith FJ, Zhang G, Yao Z. Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis. J Eur Acad Dermatol Venereol. 2016 30(9):1512-1517.
Li M （通讯作者）, Wang J, Zhang J, Ni C, Li X, Liang J, Cheng R, Li Z, Yao Z. Genome-wide linkage and exome sequencing analyses identify a initiation codon mutation of KRT5 in a unique Chinese generalized Dowling-Degos disease family. Br J Dermatol 2016 174(3):663-666.
Zhang J, Cheng R, Ni C, Liang J, Li M （通讯作者）, Yao Z. First Mal de Meleda report in Chinese Mainland: two families with a recurrent homozygous missense mutation in SLURP-1. J Eur Acad Dermatol Venereol. 2016 30(5):871-873.
Zhang G, Shao M, Li Z, Gu Y, Du X, Wang X, Li M. （通讯作者） Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene. BMC Med Genet. 2016 17(1):14.
J. Zhang, R. Cheng, J. Liang, C. Ni, M. Li （通讯作者）, Z. Yao Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. Clinical Genetics 2016 90(4):372-377.
Zhang J,Tong H,Fu X,Zhang Y,Liu J,Cheng R,Liang J, Peng J, Sun Z,Liu H,Zhang F,Lu H,Li M （通讯作者）,Yao Z Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population Sci Rep. 2015 5:11291.
Sun Z, Zhang J, Guo Y, Ni C, Liang J, Cheng R, Li M （通讯作者）, Yao Z. Genotype-phenotype correlation of Xeroderma pigmentosum in Chinese Han population Br J Dermatol 2015 172(4):1096-1102.
Li M （通讯作者）, Dai X, Cheng R, Yang L, Yao Z, Liu J A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma Acta Derm Venereol. 2014 94(3):339-40.
Li M, Liu Q, Liu J, Cheng R, Zhang H, Xue H, Bao Y, Yao Z. Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis J Eur Acad Dermatol Venereol. 2013 27(2):169-174.
Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z. Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease Am J Hum Genet. 2013 92(6):895-903.
Li M, Yang L, Shi H, Guo B, Dai X, Yao Z, Zhang G. Loss-of-function mutation in AAGAB gene in Chinese families with punctuate palmoplantar keratoderma Br J Dermatol. 2013 169(1):168-171.
Li M, Cheng R, Shi M, Liu J, Zhang G, Liu Q, Yu H, Yao Z. Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris and atopic dermatitis associated ichthyosis vulgaris Br J Dermatol. 2013 168(6):1335-1338.
Zhu KJ, Zhang C, Li M （共同第一作者）, Zhu CY, Shi G, Fan YM. Leptin levels in patients with psoriasis: a meta-analysis Clin Exp Dermatol. 2013 38(5):478-483.
Li M, Han J, Lu Z, Li H, Zhu K, Cheng R, Jiao Q, Zhang C, Zhu C, Zhuang Y, Wang Y, Shi J, Guo Y, Wu R, Yao Z. Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris J Invest Dermatol. 2013 133(11):2637-2639.
Cheng R, Li M （共同第一作者）, Guo Y, Yao Y, Gao C, Yao Z. Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy Eur J Dermatol. 2013 23(5):636-9.
Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet. 2012 49(9):563-8.
Li M, Lu Z, Cheng R, Li H, Guo Y, Yao Z. IL36RN gene mutations are not associated with sporadic generalized pustular psoriasis in Chinese Patients Br J Dermatol. 2012 168(2):452–455.
Cheng R, Li M （共同第一作者）, Zhang H, Guo Y, Chen X, Tao J, Jiang A, Gan J, Qi H, Yu H, Liao W, Yao Z. Common FLG Mutation K4671X Not Associated with Atopic Dermatitis in Han Chinese in a Family Association Study PLoS One. 2012 7(11):e49158.
Li M, Cheng R, Zhuang Y, Yao Z. A recurrent mutation in APCDD1 responsible for hereditary hypotrichosis simplex in a large Chinese family Br J Dermatol. 2012 167(4):952-954.
Li M, Liu JB, Liu Q, Yao M, Cheng R, Xue H, Zhou H, Yao Z. Interactions between FLG mutations and allergens in atopic dermatitis Arch Dermatol Res. 2012 304(10):787-793.
Li M, Jin C, Yang L, Lai M, Yao Z. A novel complex insertion-deletion mutation in ADAR1 gene in a Chinese family with dyschromatosis symmetrica hereditaria. J Eur Acad Dermatol Venereol. 2011 25(6):743-746.
Zhang GL, Li M （共同第一作者）, Du XF, Shi HJ, Shao MH, Mu HJ, Gu Y, Yang SD. A novel point mutation at donor splice-site in intron 18 of ATP2A2 gene resulting in the insertion of 27 nucleotides into the mature mRNA in a Chinese patient with severe Darier’s disease J Dermatol Sci. 2011 64:72-75.
Li M, Chen X, Chen R, Bao Y, Yao Z. Filaggrin gene mutations are associated with independent atopic asthma in Chinese patients Allergy. 2011 66(12):1616-1617.
Sun LD, Xiao FL, Li Y, Zhou WM, Tang HY, Tang XF, Zhang H, Schaarschmidt H, Zuo XB, Foelster-Holst R, He SM, Shi M, Liu Q, Lv YM, Chen XL, Zhu KJ, Guo YF, Hu DY, Li M, Li M, Zhang YH, Zhang X, Tang JP, Guo BR, Wang H, Liu Y, Zou XY, Zhou FS, Liu XY, Chen Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population Nat Genet. 2011 43(7):690-4.
Wang FX, Yang LJ, Li M （通讯作者）, Zhang SL, Zhu XH. A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma Arch Dermatol Res. 2010 302(1):67-70.
Song J, Li M （通讯作者）, Yang LJ, Zhang GL. Identification a novel missense mutation p.R761L in Chinese patients with Darier's disease Arch Dermatol Res. 2010 302(4):311-314.
Li M, Yang L, Li C, Jin C, Lai M, Zhang G, Hu Y, Ji J, Yao Z. Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria Arch Dermatol Res. 2010 302(6):469-476.
Li M （通讯作者）, Yang LJ, Zhu XH, Zhang YS, Sun H, Jiang PD, Zhang RR, Tang W, Cai Y. The Leser-Trelat Sign in Associated With Nasopharyngeal Carcinoma and A Literature Review of Cases Reported in China Clin Exp Dermatol. 2009 34(1):52-4.
Li M （通讯作者）, Yang LJ, Hua HK, Zhu XH, Dai XY. Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family Clin Exp Dermatol. 2009 34(1):26-28.
Li M （通讯作者）, Yang LJ, Zhu XH. Identification of a novel mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria Clin Exp Dermatol. 2008 33:644-646.
Li M （通讯作者）, Xu TY, Yang LJ, Zhu XH. A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia Arch Dermatol Res. 2008 300(7):389-391.
Liu JB, Li M （共同第一作者）, Chen H, Zhong SQ, Yang S, Du WD, Hao JH, Zhang TS, Zhang XJ, Zeegers MP. Association of Vitiligo with HLA-A2: a Meta-analysis J Eur Acad Dermatol Venereol. 2007 21(2):205-213.
Li M （通讯作者）, Yang LJ, Zhu XH. A novel missense mutation in DSRAD in a family with dyschromatosis symmetrica hereditaria Arch Dermatol Res. 2007 299(5-6):273-275.
Li M, Li C, Hua H, Zhu W, Lu Y, Yang L. Identification of two novel mutations in Chinese patients with dyschromatosis symmetrica hereditaria Arch Dermatol Res. 2005 297(5):196-200.
Li M, Jiang YX, Liu JB, Yang S, He PP, Gao M, Wei SC, Yan KL, Huang W, Zhang XJ. A novel mutation of the DSRAD gene in a Chinese family with Dyschromatosis symmetrica hereditaria Clin Exp Dermatol. 2005 29(6):533-535.
Li CR, Li M （共同第一作者）, Ma HJ, Luo D, Yang LJ, Wang DG, Zhu XH, Yue XZ, Chen WQ, Zhu WY. A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria J Dermatol Sci. 2005 37(2):95-99.
Zhang XJ, Li M, Gao TW, He PP, Wei SC, Liu JB, Li CR, Cui Y, Yang S, Yuan WT, Li CY, Liu YF, Xu SJ, Huang W. Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21 J Invest Dermatol. 2004 122(5):1121-5.