scholarly journals Novel keratin 5 mutation in a family with epidermolysis bullosa simplex

2015 ◽  
Vol 10 (6) ◽  
pp. 2432-2436
Author(s):  
JIAJIA GAO ◽  
XUEBIN WANG ◽  
FANG ZHENG ◽  
SUFANG DONG ◽  
XUEPING QIU
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

scholarly journals Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

2003 ◽  
Vol 21 (4) ◽  
pp. 447-447 ◽  
Author(s):  
Petra H.L. Schuilenga-Hut ◽  
Pieter v.d. Vlies ◽  
Marcel F. Jonkman ◽  
Esm� Waanders ◽  
Charles H.C.M. Buys ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Novel Mutations ◽  
Keratin 5

Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

2019 ◽  
Vol 36 (6) ◽  
pp. 1007-1009 ◽  
Author(s):  
Sarah E. Sheppard ◽  
Laura Elizabeth Anderson ◽  
Cathryn Sibbald ◽  
Colleen Cotton ◽  
Elizabeth Bhoj ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to val in Linker 12 domin of keratin 5

1995 ◽  
Vol 4 (10) ◽  
pp. 1999-2000 ◽  
Author(s):  
Masato Matsuki ◽  
Kohji Hashimoto ◽  
Kunihlko Yoshikawa ◽  
Hirokazu Yasuno ◽  
Kiyofuml Yamanishi
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant

2013 ◽  
Vol 39 (1) ◽  
pp. 80-81 ◽  
Author(s):  
M. Jantke ◽  
C. Has ◽  
H. A. Haenssle ◽  
M. P. Schön ◽  
S. Emmert
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Variant ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

scholarly journals A Mutation in the V1 Domain of Keratin 5 Causes Epidermolysis Bullosa Simplex with Mottled Pigmentation

1997 ◽  
Vol 108 (5) ◽  
pp. 809-810 ◽  
Author(s):  
Alan D. Irvine ◽  
Kevin E. McKenna ◽  
Hilary Jenkinson ◽  
Anne E. Hughes
Keyword(s):  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5

scholarly journals Complete Cytolysis and Neonatal Lethality in Keratin 5 Knockout Mice Reveal Its Fundamental Role in Skin Integrity and in Epidermolysis Bullosa Simplex

2001 ◽  
Vol 12 (6) ◽  
pp. 1775-1789 ◽  
Author(s):  
Bettina Peters ◽  
Jutta Kirfel ◽  
Heinrich Büssow ◽  
Miguel Vidal ◽  
Thomas M. Magin
Keyword(s):  
Epidermolysis Bullosa ◽  
Basal Cells ◽  
Epidermolysis Bullosa Simplex ◽  
Keratin 5 ◽  
Neonatal Lethality ◽  
Keratin Filaments ◽  
Wide Range ◽  
Skin Integrity

In human patients, a wide range of mutations in keratin (K) 5 or K14 lead to the blistering skin disorder epidermolysis bullosa simplex. Given that K14 deficiency does not lead to the ablation of a basal cell cytoskeleton because of a compensatory role of K15, we have investigated the requirement for the keratin cytoskeleton in basal cells by inactivating the K5 gene in mice. We report that the K5− / − mice die shortly after birth, lack keratin filaments in the basal epidermis, and are more severely affected than K14− / −mice. In contrast to the K14− / −mice, we detected a strong induction of the wound-healing keratin K6 in the suprabasal epidermis of cytolyzed areas of postnatal K5− / − mice. In addition, K5 and K14 mice differed with respect to tongue lesions. Moreover, we show that in the absence of K5 and other type II keratins, residual K14 and K15 aggregated along hemidesmosomes, demonstrating that individual keratins without a partner are stable in vivo. Our data indicate that K5 may be the natural partner of K15 and K17. We suggest that K5 null mutations may be lethal in human epidermolysis bullosa simplex patients.

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