Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis

被引:3
作者
Numata, Sanae
Teye, Kwesi
Karashima, Tadashi
Matsuda, Mitsuhiro
Hamada, Takahiro
Hashimoto, Takashi
机构
[1] Kurume Univ, Sch Med, Dept Dermatol, Kurume, Fukuoka, Japan
[2] Kurume Univ, Inst Cutaneous Cell Biol, Kurume, Fukuoka, Japan
关键词
autosomal recessive congenital ichthyosis; functional study; missense mutation; transglutaminase; 1; TRANSGLUTAMINASE; 1; MUTATIONS; LAMELLAR ICHTHYOSIS;
D O I
10.1111/exd.13000
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:657 / 659
页数:3
相关论文
共 9 条
[1]   Transglutaminase1 Preferred Substrate Peptide K5 Is an Efficient Tool in Diagnosis of Lamellar Ichthyosis [J].
Akiyama, Masashi ;
Sakai, Kaori ;
Yanagi, Teruki ;
Fukushima, Satoshi ;
Ihn, Hironobu ;
Hitomi, Kiyotaka ;
Shimizu, Hiroshi .
AMERICAN JOURNAL OF PATHOLOGY, 2010, 176 (04) :1592-1599
[2]   Transglutaminase 1 mutations in lamellar ichthyosis - Loss of activity due to failure of activation by proteolytic processing [J].
Candi, E ;
Melino, G ;
Lahm, A ;
Ceci, R ;
Rossi, A ;
Kim, IG ;
Ciani, B ;
Steinert, PM .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (22) :13693-13702
[3]   MUTATIONS OF KERATINOCYTE TRANSGLUTAMINASE IN LAMELLAR ICHTHYOSIS [J].
HUBER, M ;
RETTLER, I ;
BERNASCONI, K ;
FRENK, E ;
LAVRIJSEN, SPM ;
PONEC, M ;
BON, A ;
LAUTENSCHLAGER, S ;
SCHORDERET, DF ;
HOHL, D .
SCIENCE, 1995, 267 (5197) :525-528
[4]   Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population [J].
Laiho, E ;
Ignatius, J ;
Mikkola, H ;
Yee, VC ;
Teller, DC ;
Niemi, KM ;
SaarialhoKere, U ;
Kere, J ;
Palotie, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (03) :529-538
[5]   Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice [J].
Nakagawa, Noboru ;
Yamamoto, Masaaki ;
Imai, Yasutomo ;
Sakaguchi, Yoshiko ;
Takizawa, Takami ;
Ohta, Noboru ;
Yagi, Naoto ;
Hatta, Ichiro ;
Hitomi, Kiyotaka ;
Takizawa, Toshihiro ;
Takeda, Junji ;
Tsuda, Tatsuya ;
Matsuki, Masato ;
Yamanishi, Kiyofumi .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2012, 65 (03) :196-206
[6]   Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia [J].
Natsuga, Ken ;
Akiyama, Masashi ;
Kato, Naoko ;
Sakai, Kaori ;
Sugiyama-Nakagiri, Yoriko ;
Nishimura, Machiko ;
Hata, Hiroo ;
Abe, Masataka ;
Arita, Ken ;
Tsuji-Abe, Yukiko ;
Onozuka, Takashi ;
Aoyagi, Satoru ;
Kodama, Kazuo ;
Ujiie, Hideyuki ;
Tomita, Yuki ;
Shimizu, Hiroshi .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (11) :2669-2673
[7]   Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia [J].
Numata, Sanae ;
Teye, Kwesi ;
Krol, Rafal P. ;
Karashima, Tadashi ;
Fukuda, Shunpei ;
Matsuda, Mitsuhiro ;
Ishii, Norito ;
Furumura, Minao ;
Ohata, Chika ;
Saminathan, Sasi D. ;
Ariffin, Roziana ;
Pramono, Zacharias A. D. ;
Leong, Kin Fon ;
Hamada, Takahiro ;
Hashimoto, Takashi .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2015, 78 (01) :82-85
[8]   Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans [J].
Radner, Franz P. W. ;
Marrakchi, Slaheddine ;
Kirchmeier, Peter ;
Kim, Gwang-Jin ;
Ribierre, Florence ;
Kamoun, Bourane ;
Abid, Leila ;
Leipoldt, Michael ;
Turki, Hamida ;
Schempp, Werner ;
Heilig, Roland ;
Lathrop, Mark ;
Fischer, Judith .
PLOS GENETICS, 2013, 9 (06)
[9]  
Zhang Yong-ling, 2012, Zhonghua Yixue Yichuanxue Zazhi, V29, P1, DOI 10.3760/cma.j.issn.1003-9406.2012.01.001