Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

被引:31
作者
Shimomura, Yutaka [1 ]
Wajid, Muhammad [1 ]
Kurban, Mazen [1 ]
Sato, Nobuyuki [3 ]
Christiano, Angela M. [1 ,2 ]
机构
[1] Columbia Univ, Dept Dermatol, New York, NY 10027 USA
[2] Columbia Univ, Dept Genet & Dev, New York, NY USA
[3] Niigata Univ, Sch Med, Dept Dermatol, Niigata 951, Japan
关键词
EXPRESSION; MATRIX; FAMILY;
D O I
10.1038/jid.2009.341
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:892 / 895
页数:4
相关论文
共 10 条
[1]  
Barbareschi M, 1997, AM J MED GENET, V72, P91, DOI 10.1002/(SICI)1096-8628(19971003)72:1<91::AID-AJMG19>3.0.CO
[2]  
2-P
[3]   PILI TORTI AND ONYCHODYSPLASIA - REPORT OF A PREVIOUSLY UNDESCRIBED HYDROTIC ECTODERMAL DYSPLASIA [J].
CALZAVARAPINTON, P ;
CARLINO, A ;
BENETTI, A ;
DEPANFILIS, G .
DERMATOLOGICA, 1991, 182 (03) :184-187
[4]   'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments [J].
Coulombe, PA ;
Omary, MB .
CURRENT OPINION IN CELL BIOLOGY, 2002, 14 (01) :110-122
[5]   PATHOGENESIS OF MONILETHRIX - COMPUTER STEREOGRAPHY AND ELECTRON-MICROSCOPY [J].
ITO, M ;
HASHIMOTO, K ;
KATSUUMI, K ;
SATO, Y .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1990, 95 (02) :186-194
[6]   The catalog of human hair keratins - II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins [J].
Langbein, L ;
Rogers, MA ;
Winter, H ;
Praetzel, S ;
Schweizer, J .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (37) :35123-35132
[7]   Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family [J].
Naeem, M. ;
John, P. ;
Ali, G. ;
Ahmad, W. .
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2007, 32 (05) :502-505
[8]   A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type [J].
Naeem, M ;
Wajid, M ;
Lee, K ;
Leal, SM ;
Ahmad, W .
JOURNAL OF MEDICAL GENETICS, 2006, 43 (03) :274-279
[9]   Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2 [J].
Naeem, M. ;
Jelani, M. ;
Lee, K. ;
Ali, G. ;
Chishti, M. S. ;
Wali, A. ;
Gul, A. ;
John, P. ;
Hassan, M. J. ;
Leal, S. M. ;
Ahmad, W. .
BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (06) :1184-1190
[10]   Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed [J].
Perrin, C ;
Langbein, L ;
Schweizer, J .
BRITISH JOURNAL OF DERMATOLOGY, 2004, 151 (02) :362-371