导师姓名： 王秀敏 专业代码： 100202
性别： 女 专业名称： 儿科学
培养单位： 附属儿童医学中心 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： wangxiumin1019@126.com
邮编： 200127 邮箱地址： wangxiumin1019@126.com

研究方向 (点击浏览详细信息)
儿童内分泌与遗传代谢病

社会任职
上海市儿科内分泌遗传代谢组副组长，上海市医学会儿科分会委员，中国医师协会青春期医学内分泌组委员。现任上海交通大学附属上海儿童医学中心内分泌代谢科主任, 医学遗传科副主任。

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
No. ** 调控Beclin1/Atg7 等介导的自噬对胰岛ε/β细胞分化失衡的影响及其机制 国家自然科学基金资助项目 2014-01~2017-12 70万元 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
Xu Y, Wang Y, Li N, Yao R, Li G, Li J, Ding Y, Chen Y, Huang X, Chen Y, Qing Y, Yu T, Shen Y, Wang X （通讯作者）, Shen Y, Wang J. New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development. Eur J Endocrinol. 2019 pii: EJE-19-0111.R1.
Chen H, Li X, Liu X, Wang J, Zhang Z, Wu J, Huang M, Guo Y, Li F, Wang X （通讯作者）, Fu L. Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. Orphanet J Rare Dis. 2019 14(1):29.
Li X, Yao R, Tan X, Li N, Ding Y, Li J, Chang G, Chen Y, Ma L, Wang J, Fu L, Wang X. （通讯作者） Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clin Genet. 2019 doi: 10.1111/cge.13588.
Li X, Cheng Q, Ding Y, Li Q, Yao R, Wang J, Wang X. （通讯作者） TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report. BMC Pediatr. 2019 19(1):233.
Xu Y, Chen Y, Li N, Hu X, Li G, Ding Y, Li J, Shen Y, Wang X, Wang J. （通讯作者） Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1. J Pediatr Endocrinol Metab. 2018 31(2):239-245.
Li X, Cheng Q, Li N, Chang G, Ding Y, Li J, Shen Y, Wang J, Wang X. （通讯作者） SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. Fetal Pediatr Pathol. 2018 28:1-7.
Yu T, Chang G, Cheng Q, Yao R, Li J, Xu Y, Li G, Ding Y, Qing Y, Li N, Shen Y, Wang X, Wang J. （通讯作者） Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure. Mol Cell Endocrinol. 2018 478:133-140.
Li N, Wang Y, Yang Y, Wang P, Huang H, Xiong S, Sun L, Cheng M, Song C, Cheng X, Ding Y, Chang G, Chen Y, Xu Y, Yu T, Yao RE, Shen Y, Wang X （通讯作者）, Wang J. Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. Orphanet J Rare Dis. 2018 13(1):178.
Ding Y, Li N, Chang G, Li J, Yao R, Shen Y, Wang J, Huang X, Wang X. （通讯作者） Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene. J Pediatr Endocrinol Metab. 2018 26;31(7):781-788.
Niu Li, Li Zhao, Juan Li, Yu Ding, Yongnian Shen, Xiaodong Huang, Xiumin Wang and Jian Wang. （通讯作者） Turner syndrome caused by rare complex structural abnormalities involving chromosome X. Experimental and Therapeutic Medicine, 2017 2017, 14: 2265-2270 DOI: 10.3892/etm.2017.4756.
李群,　常国营,　丁宇,　李娟,　程青,　李辛,　王剑,　王秀敏 （通讯作者）,　沈亦平 儿童原发性肾性糖尿1 例临床及基因突变分析. 临床儿科杂志, 2017 2017，35（6）：418-420.
Niu Li, Guoying Chang , Yufei Xu, Yu Ding, Guoqiang Li, Tingting Yu, Yanrong Qing, Juan Li, Yiping Shen, Jian Wang and Xiumin Wang. Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature. American Journal of Medical Genetics Part A. 2017 173(12):3189-3194.
李娟,丁宇,常国营, 程青,李辛,王剑,王秀敏 （通讯作者）,沈亦平. 携带16号染色体单亲二倍体合并ORC6基因新突变的Meier-Gorlin综合征一例 中华医学遗传学杂志 2017 2017,37( 1 ): 68-72.
Chen X, Wang X （通讯作者）, Dong G, Fu J, Wu W, Jiang Y. Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals. J Pediatr Endocrinol Metab. 2017 2017;30(4):431-436.
吴莫龄, 李娟, 丁宇, 陈瑶, 常国营, 王秀敏 （通讯作者）, 王剑, 沈亦平. 4例女性Prader-Willi综合征患儿的内分泌代谢特点. 中国当代儿科杂志, 2017 2017,19 (5): 514-518.
Niu Li, Guoying Chang , Yufei Xu, Yu Ding, ... Yiping Shen, Jian Wang and Xiumin Wang. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency. Int. J. Mol. Sci. 2017 2017, 18(4), 857;
Tingting Yu, Juan Li, Niu Li, Rui Liu, Yu Ding, Guoying Chang, Yao Chen, Yiping Shen, Xiumin Wang （通讯作者）, Jian Wang. Obesity and developmental delay in a patient with uniparental disomy of chromosome 2. International Journal of Obesity 2016 2016.40:1935-41.
李娟,王剑,丁宇,程青,李辛,王秀敏 （通讯作者）,沈亦平,沈永年 儿童1型糖尿病合并普通变异型免疫缺陷综合征并携带信号转导与转录激活因子3基因新突变一例并文献复习 中华糖尿病杂志 2016 8(05): 272-277.
Juan Li, Niu Li, Yu Ding, Xiaodong Huang, Yongnian Shen, JianWang, XiuminWang. （通讯作者） Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene. Meta Gene 2016 7: 64–69.
Mao Shujiong, Sun Liying, Tu Miaoying, Zou Chaochun, Wang xiumin. （通讯作者） Cytogenetic and clinical features in children suspected with congenital abnormalities in 1 medical center of Zhejiang province from 2011 to 2014. Medicine 2015 94(42) e1857
Liang Jianfeng, Fu Junfen, Jiang Youyun, Dong Guanping, Wang Xiumin, Wu Wei. TriGlycerides and high-density lipoprotein cholesterol ratio compared with homeostasis mode assessment insulin resistance indexes in screening for metabolic syndrome in the chinese obese children: a cross sectionstudy. BMC Pediatr. 2015 15(1):138.
金华盛, 王秀敏 （通讯作者）, 董关萍, 黄轲, 傅君芬. 5599例染色体核型检测结果分析. 中华医学遗传学杂志. 2014 31(1):114~116
金华盛, 王秀敏 （通讯作者）, 董关萍, 黄轲, 傅君芬. 新生儿细胞遗传学检测357例结果分析. 中国新生儿科杂志 2014 29（1）：31-34
Xiumin Wang, Zheng Shen, Meichun Xu, Junfen Fu, Li Liang. A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene. Iran J Pediatr. 2013 23(1):89-94.
Zhu ZW, Ni SQ, Wang XM, Wang J, Zeng S, Zhao ZY. Hepatic CYP3A expression and activity in low birth weight developing female rats. World J Pediatr. 2013 9(3):266-72.
Xiumin Wang. Early life programming and metabolic syndrome. World J Pediatr 2013 9(1):197-200.
Xiumin Wang, Huijun Yu, Liying Sun, Huasheng Jin, Guanping Dong, Junfen Fu, Li Liang. Height SDS is related to karyotypes and birth weight in girls with Turner Syndrome. Hong Kong Journal of Paediatrics. 2013 18:24-30
Xiumin Wang, Shaoqing Ni, Yanping Xu, Li Liang, Lizhong Du, Weizhong Gu. Effects of long-term high-fat/high-energy and high-protein diets on insulin and ghrelin expression in developing rats. Endocr Res 2012 .37(3):97-109.