γ-Secretase Gene Mutations in Familial Acne Inversa

被引：324

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

来源：

SCIENCE | 2010年 / 330卷 / 6007期

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
Bergmans, Bruno A.
De Strooper, Bart
[J]. 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
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
[J]. 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
Pan, YH
Lin, MH
Tian, XL
Cheng, HT
Gridley, T
Shen, J
Kopan, R
[J]. 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
Prokop, S
Haass, C
Steiner, H
[J]. JOURNAL OF NEUROCHEMISTRY, 2005, 94 (01) : 57 - 62
[5] Hidradenitis suppurativa
Revuz, J.
[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
Shen, Jie
Kelleher, Raymond J., III
[J]. 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
Shuster, S.
[J]. BRITISH JOURNAL OF DERMATOLOGY, 2008, 158 (01) : 1 - 3