Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene

被引:17
作者
Terheyden, Patrick [1 ]
Grimberg, Gundula [2 ]
Hausser, Ingrid [3 ]
Rose, Christian [1 ]
Korge, Bernhard P. [2 ]
Krieg, Thomas [2 ]
Arin, Meral J. [2 ]
机构
[1] Med Univ Lubeck, Dept Dermatol, D-23538 Lubeck, Germany
[2] Univ Cologne, Dept Dermatol, D-5000 Cologne, Germany
[3] Univ Heidelberg, Dept Dermatol, D-6900 Heidelberg, Germany
关键词
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; MESSENGER-RNA DECAY; SKIN; KNOCKOUT;
D O I
10.1038/jid.2009.131
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:2721 / 2723
页数:3
相关论文
共 11 条
[1]   Keratins and their associated skin disorders [J].
Arin, Meral J. ;
Mueller, Felix B. .
EUROPEAN JOURNAL OF DERMATOLOGY, 2007, 17 (02) :123-129
[2]   A HUMAN KERATIN-14 KNOCKOUT - THE ABSENCE OF K14 LEADS TO SEVERE EPIDERMOLYSIS-BULLOSA SIMPLEX AND A FUNCTION FOR AN INTERMEDIATE FILAMENT PROTEIN [J].
CHAN, YM ;
ANTONLAMPRECHT, I ;
YU, QC ;
JACKEL, A ;
ZABEL, B ;
ERNST, JP ;
FUCHS, E .
GENES & DEVELOPMENT, 1994, 8 (21) :2574-2587
[3]   Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells [J].
Lejeune, F ;
Maquat, LE .
CURRENT OPINION IN CELL BIOLOGY, 2005, 17 (03) :309-315
[4]   MUTATIONS IN THE ROD 1A DOMAIN OF KERATIN-1 AND KERATIN-10 IN BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA (BCIE) [J].
MCLEAN, WHI ;
EADY, RAJ ;
DOPPINGHEPENSTAL, PJC ;
MCMILLAN, JR ;
LEIGH, IM ;
NAVSARIA, HA ;
HIGGINS, C ;
HARPER, JI ;
PAIGE, DG ;
MORLEY, SM ;
LANE, EB .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1994, 102 (01) :24-30
[5]   A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis [J].
Müller, FB ;
Huber, M ;
Kinaciyan, T ;
Hausser, I ;
Schaffrath, C ;
Krieg, T ;
Hohl, D ;
Korge, BP ;
Arin, MJ .
HUMAN MOLECULAR GENETICS, 2006, 15 (07) :1133-1141
[6]   Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: Defining a potential role for keratin 16 [J].
Paladini, RD ;
Takahashi, K ;
Bravo, NS ;
Coulombe, PA .
JOURNAL OF CELL BIOLOGY, 1996, 132 (03) :381-397
[7]   Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice [J].
Reichelt, J ;
Büssow, H ;
Grund, C ;
Magin, TM .
MOLECULAR BIOLOGY OF THE CELL, 2001, 12 (06) :1557-1568
[8]   A MUTATIONAL HOT-SPOT IN KERATIN-10 (KRT-10) IN PATIENTS WITH EPIDERMOLYTIC HYPERKERATOSIS [J].
ROTHNAGEL, JA ;
FISHER, MP ;
AXTELL, SM ;
PITTELKOW, MR ;
ANTONLAMPRECHT, I ;
HUBER, M ;
HOHL, D ;
ROOP, DR .
HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2147-2150
[9]   The mammalian nonsense-mediated mRNA decay pathway: To decay or not to decay! Which players make the decision? [J].
Silva, Ana Luisa ;
Romao, Luisa .
FEBS LETTERS, 2009, 583 (03) :499-505
[10]   INCREASED EXPRESSION OF KERATIN-16 CAUSES ANOMALIES IN CYTOARCHITECTURE AND KERATINIZATION IN TRANSGENIC MOUSE SKIN [J].
TAKAHASHI, K ;
FOLMER, J ;
COULOMBE, PA .
JOURNAL OF CELL BIOLOGY, 1994, 127 (02) :505-520