γ-Secretase Gene Mutations in Familial Acne Inversa

被引:337
作者
Wang, Baoxi [2 ]
Yang, Wei [1 ]
Wen, Wen [3 ]
Sun, Jing [1 ]
Su, Bin [2 ]
Liu, Bo [4 ]
Ma, Donglai [2 ]
Lv, Dan [1 ]
Wen, Yaran [1 ]
Qu, Tao [2 ]
Chen, Min [5 ]
Sun, Miao [1 ]
Shen, Yan [1 ,4 ]
Zhang, Xue [1 ,3 ]
机构
[1] Peking Union Med Coll, Chinese Acad Med Sci, Inst Basic Med Sci, State Key Lab Med Mol Biol, Beijing 100021, Peoples R China
[2] Peking Union Med Coll, Chinese Acad Med Sci, Peking Union Med Coll Hosp, Beijing 100021, Peoples R China
[3] China Med Univ, Shenyang, Peoples R China
[4] Chinese Natl Human Genome Ctr Beijing, Beijing, Peoples R China
[5] Peking Union Med Coll, Chinese Acad Med Sci, Inst Dermatol, Nanjing, Peoples R China
关键词
HIDRADENITIS-SUPPURATIVA; DISEASE;
D O I
10.1126/science.1196284
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:1065 / 1065
页数:1
相关论文
共 7 条
[1]   γ-secretases: from cell biology to therapeutic strategies [J].
Bergmans, Bruno A. ;
De Strooper, Bart .
LANCET NEUROLOGY, 2010, 9 (02) :215-226
[2]   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
[3]   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
[4]   Length and overall sequence of the PEN-2 C-terminal domain determines its function in the stabilization of presenilin fragments [J].
Prokop, S ;
Haass, C ;
Steiner, H .
JOURNAL OF NEUROCHEMISTRY, 2005, 94 (01) :57-62
[5]   Hidradenitis suppurativa [J].
Revuz, J. .
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2009, 23 (09) :985-998
[6]   The presenilin hypothesis of Alzheimer's disease: Evidence for a loss-of-function pathogenic mechanism [J].
Shen, Jie ;
Kelleher, Raymond J., III .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (02) :403-409
[7]   The nature and consequence of Karl Marx's skin disease [J].
Shuster, S. .
BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (01) :1-3