Nicastrin Mutations in French Families with Hidradenitis Suppurativa

被引：62

作者：

Miskinyte, Snaigune ^{[1
]}

Nassif, Aude ^{[2
]}

Merabtene, Fatiha ^{[3
]}

Ungeheuer, Marie-Noelle ^{[4
]}

Join-Lambert, Olivier ^{[3
,5
,6
]}

Jais, Jean-Philippe ^{[3
,7
]}

Hovnanian, Alain ^{[1
,3
,8
,9
]}

机构：

[1] INSERM, U781, Paris, France

[2] Inst Pasteur, Med Ctr, Paris, France

[3] Univ Paris 05, Paris, France

[4] ICAReB, Inst Pasteur, Paris, France

[5] INSERM, U1002, Paris, France

[6] CHU Necker Enfants Malad, Microbiol Lab, Paris, France

[7] CHU Necker Enfants Malad, Dept Biostat & Med Informat, Paris, France

[8] CHU Necker Enfants Malad, Dept Genet, Paris, France

[9] CHU Necker Enfants Malad, Dept Dermatol, Paris, France

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2012年 / 132卷 / 06期

关键词：

ACNE INVERSA; NCSTN MUTATIONS; NOTCH; GENE;

D O I：

10.1038/jid.2012.23

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：1728 / 1730

页数：3

共 12 条

[1] Nicastrin interacts with γ-secretase complex components via the N-terminal part of its transmembrane domain [J].

Capell, A ;

Kaether, C ;

Edbauer, D ;

Shirotani, K ;

Merkl, S ;

Steiner, H ;

Haass, C .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (52) :52519-52523

[2] A FAMILY STUDY OF HIDRADENITIS SUPPURATIVA [J].

FITZSIMMONS, JS ;

GUILBERT, PR .

JOURNAL OF MEDICAL GENETICS, 1985, 22 (05) :367-373

[3] Two novel mutations of the nicastrin gene in Chinese patients with acne inversa [J].

Li, C. -R. ;

Jiang, M. -J. ;

Shen, D. -B. ;

Xu, H. -X. ;

Wang, H. -S. ;

Yao, X. ;

Zhang, Y. ;

Zhou, W. -Q. ;

Wang, B. .

BRITISH JOURNAL OF DERMATOLOGY, 2011, 165 (02) :415-418

[4] Confirmation by Exome Sequencing of the Pathogenic Role of NCSTN Mutations in Acne Inversa (Hidradenitis Suppurativa) [J].

Liu, Yuan ;

Gao, Min ;

Lv, Yong-mei ;

Yang, Xu ;

Ren, Yun-qing ;

Jiang, Tao ;

Zhang, Xin ;

Guo, Bi-rong ;

Li, Min ;

Zhang, Qing ;

Zhang, Peng ;

Zhou, Fu-sheng ;

Chen, Gang ;

Yin, Xian-yong ;

Zuo, Xian-bo ;

Sun, Liang-dan ;

Zheng, Xiao-dong ;

Zhang, Shu-mei ;

Liu, Jian-jun ;

Zhou, Youwen ;

Li, Ying-rui ;

Wang, Jun ;

Wang, Jian ;

Yang, Huan-ming ;

Yang, Sen ;

Li, Rui-qiang ;

Zhang, Xue-jun .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 (07) :1570-1572

[5] 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

[6] PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa) [J].

Pink, Andrew E. ;

Simpson, Michael A. ;

Brice, Glen W. ;

Smith, Catherine H. ;

Desai, Nemesha ;

Mortimer, Peter S. ;

Barker, Jonathan N. W. N. ;

Trembath, Richard C. .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2011, 131 (07) :1568-1570

[7] Identification of distinct γ-secretase complexes with different APH-1 variants [J].

Shirotani, K ;

Edbauer, D ;

Prokop, S ;

Haass, C ;

Steiner, H .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (40) :41340-41345

[8] γ-Secretase activity is associated with a conformational change of Nicastrin [J].

Shirotani, K ;

Edbauer, D ;

Capell, A ;

Schmitz, J ;

Steiner, H ;

Haass, C .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (19) :16474-16477

[9] The clinical genetics of hidradenitis suppurativa revisited [J].

Von der Werth, JM ;

Williams, HC ;

Raeburn, JA .

BRITISH JOURNAL OF DERMATOLOGY, 2000, 142 (05) :947-953

[10] γ-Secretase Gene Mutations in Familial Acne Inversa [J].

Wang, Baoxi ;

Yang, Wei ;

Wen, Wen ;

Sun, Jing ;

Su, Bin ;

Liu, Bo ;

Ma, Donglai ;

Lv, Dan ;

Wen, Yaran ;

Qu, Tao ;

Chen, Min ;

Sun, Miao ;

Shen, Yan ;

Zhang, Xue .

SCIENCE, 2010, 330 (6007) :1065-1065

← 1 2 →