Confirmation by Exome Sequencing of the Pathogenic Role of NCSTN Mutations in Acne Inversa (Hidradenitis Suppurativa)

被引:70
作者
Liu, Yuan [1 ]
Gao, Min [1 ]
Lv, Yong-mei [1 ]
Yang, Xu [2 ]
Ren, Yun-qing [1 ]
Jiang, Tao [2 ]
Zhang, Xin [1 ]
Guo, Bi-rong [1 ]
Li, Min [1 ]
Zhang, Qing [2 ]
Zhang, Peng [2 ]
Zhou, Fu-sheng [1 ]
Chen, Gang [1 ]
Yin, Xian-yong [1 ]
Zuo, Xian-bo [1 ]
Sun, Liang-dan [1 ]
Zheng, Xiao-dong [1 ]
Zhang, Shu-mei [1 ]
Liu, Jian-jun [1 ]
Zhou, Youwen [1 ]
Li, Ying-rui [2 ]
Wang, Jun [2 ]
Wang, Jian [2 ]
Yang, Huan-ming [2 ]
Yang, Sen [1 ]
Li, Rui-qiang [2 ]
Zhang, Xue-jun [1 ]
机构
[1] Anhui Med Univ, Hosp 1, Dept Dermatol, Inst Dermatol, Hefei, Anhui, Peoples R China
[2] Beijing Genom Inst Shenzhen, Shenzhen, Peoples R China
关键词
D O I
10.1038/jid.2011.62
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:1570 / 1572
页数:3
相关论文
共 15 条
[1]   Single-nucleotide evolutionary constraint scores highlight disease-causing mutations [J].
Cooper, Gregory M. ;
Goode, David L. ;
Ng, Sarah B. ;
Sidow, Arend ;
Bamshad, Michael J. ;
Shendure, Jay ;
Nickerson, Deborah A. .
NATURE METHODS, 2010, 7 (04) :250-251
[2]   Hidradenitis Suppurativa [J].
Danby, F. William ;
Margesson, Lynette J. .
DERMATOLOGIC CLINICS, 2010, 28 (04) :779-+
[3]   Inversa acne (Hidradenitis suppurativa): A case report and identification of the locus at chromosome 1p21.1-1q25.3 [J].
Gao, Min ;
Wang, Pei-Guang ;
Cui, Yong ;
Yang, Sen ;
Zhang, Yu-Hui ;
Lin, Da ;
Zhang, Kai-Yue ;
Liang, Yan-Hua ;
Sun, Liang-Dan ;
Yan, Kai-Lin ;
Xiao, Feng-Li ;
Huang, Wei ;
Zhang, Xue-Jun .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 (06) :1302-1306
[4]   De novo mutations of SETBP1 cause Schinzel-Giedion syndrome [J].
Hoischen, Alexander ;
van Bon, Bregje W. M. ;
Gilissen, Christian ;
Arts, Peer ;
van Lier, Bart ;
Steehouwer, Marloes ;
de Vries, Petra ;
de Reuver, Rick ;
Wieskamp, Nienke ;
Mortier, Geert ;
Devriendt, Koen ;
Amorim, Marta Z. ;
Revencu, Nicole ;
Kidd, Alexa ;
Barbosa, Mafalda ;
Turner, Anne ;
Smith, Janine ;
Oley, Christina ;
Henderson, Alex ;
Hayes, Ian M. ;
Thompson, Elizabeth M. ;
Brunner, Han G. ;
de Vries, Bert B. A. ;
Veltman, Joris A. .
NATURE GENETICS, 2010, 42 (06) :483-485
[5]   SOAP2: an improved ultrafast tool for short read alignment [J].
Li, Ruiqiang ;
Yu, Chang ;
Li, Yingrui ;
Lam, Tak-Wah ;
Yiu, Siu-Ming ;
Kristiansen, Karsten ;
Wang, Jun .
BIOINFORMATICS, 2009, 25 (15) :1966-1967
[6]   SNP detection for massively parallel whole-genome resequencing [J].
Li, Ruiqiang ;
Li, Yingrui ;
Fang, Xiaodong ;
Yang, Huanming ;
Wang, Jian ;
Kristiansen, Karsten ;
Wang, Jun .
GENOME RESEARCH, 2009, 19 (06) :1124-1132
[7]   Exome sequencing identifies the cause of a mendelian disorder [J].
Ng, Sarah B. ;
Buckingham, Kati J. ;
Lee, Choli ;
Bigham, Abigail W. ;
Tabor, Holly K. ;
Dent, Karin M. ;
Huff, Chad D. ;
Shannon, Paul T. ;
Jabs, Ethylin Wang ;
Nickerson, Deborah A. ;
Shendure, Jay ;
Bamshad, Michael J. .
NATURE GENETICS, 2010, 42 (01) :30-U41
[8]   Targeted capture and massively parallel sequencing of 12 human exomes [J].
Ng, Sarah B. ;
Turner, Emily H. ;
Robertson, Peggy D. ;
Flygare, Steven D. ;
Bigham, Abigail W. ;
Lee, Choli ;
Shaffer, Tristan ;
Wong, Michelle ;
Bhattacharjee, Arindam ;
Eichler, Evan E. ;
Bamshad, Michael ;
Nickerson, Deborah A. ;
Shendure, Jay .
NATURE, 2009, 461 (7261) :272-U153
[9]   Notch signaling - constantly on the move [J].
Nichols, James T. ;
Miyamoto, Alison ;
Weinmaster, Gerry .
TRAFFIC, 2007, 8 (08) :959-969
[10]   γ-secretase functions through notch signaling to maintain skin appendages but is not required for their patterning or initial morphogenesis [J].
Pan, YH ;
Lin, MH ;
Tian, XL ;
Cheng, HT ;
Gridley, T ;
Shen, J ;
Kopan, R .
DEVELOPMENTAL CELL, 2004, 7 (05) :731-743