文献
J-GLOBAL ID:200902221266391879
整理番号:09A0434999
無毛症と光恐怖症を伴う毛包性魚鱗癬(IFAP)症候群はコレステロールホメオスタシスや小胞体ストレス応答に必須な膜内亜鉛メタロプロテアーゼである膜結合転写因子プロテアーゼ部位2(MBTPS2)の欠乏が病因である
IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response
著者 (14件):
OEFFNER Frank
(Dep. of Human Genetics, Philipps-Universitaet, Marburg 35037, DEU)
,
FISCHER Gayle
(The Northern Clinical School, Univ. of Sydney, St Leonard’s NSW 2065, AUS)
,
HAPPLE Rudolf
(Dep. of Dermatology, Philipps-Universitaet, Marburg 35037, DEU)
,
KOENIG Arne
(Dep. of Dermatology, Philipps-Universitaet, Marburg 35037, DEU)
,
BETZ Regina C.
(Dep. of Human Genetics, Rheinische Friedrich-Wilhelms-Universitaet, Bonn 53111, DEU)
,
BORNHOLDT Dorothea
(Dep. of Human Genetics, Philipps-Universitaet, Marburg 35037, DEU)
,
NEIDEL Ulrike
(Dep. of Human Genetics, Philipps-Universitaet, Marburg 35037, DEU)
,
DEL CARMEN BOENTE Maria
(Dep. of Dermatology, Hospital del Nino Jesus, San Miguel de Tucuman 4000, ARG)
,
REDLER Silke
(Dep. of Human Genetics, Rheinische Friedrich-Wilhelms-Universitaet, Bonn 53111, DEU)
,
ROMERO-GOMEZ Javier
(Dermatologist, C/Violeta 9D3, Fuengirola (Malaga) 29640, ESP)
,
SALHI Aiecha
(Dep. of Dermatology, Univ. of Algiers, Algiers 16030, DZA)
,
VERA-CASANO Angel
(Dep. of Dermatology, Hospital Carlos Haya, Malaga 29010, ESP)
,
WEIRICH Christian
(Dep. of Human Genetics, Philipps-Universitaet, Marburg 35037, DEU)
,
GRZESCHIK Karl-heinz
(Dep. of Human Genetics, Philipps-Universitaet, Marburg 35037, DEU)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
84
号:
4
ページ:
459-467
発行年:
2009年04月10日
JST資料番号:
B0360B
ISSN:
0002-9297
資料種別:
逐次刊行物 (A)
発行国:
オランダ (NLD)
言語:
英語 (EN)