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

Novel Mutations ◽

Novel keratin 5 mutation in a family with epidermolysis bullosa simplex

Experimental and Therapeutic Medicine ◽

10.3892/etm.2015.2811 ◽

2015 ◽

Vol 10 (6) ◽

pp. 2432-2436

Author(s):

JIAJIA GAO ◽

XUEBIN WANG ◽

FANG ZHENG ◽

SUFANG DONG ◽

XUEPING QIU

Keyword(s):

Epidermolysis Bullosa ◽

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

Pediatric Dermatology ◽

10.1111/pde.13965 ◽

2019 ◽

Vol 36 (6) ◽

pp. 1007-1009 ◽

Cited By ~ 1

Author(s):

Sarah E. Sheppard ◽

Laura Elizabeth Anderson ◽

Cathryn Sibbald ◽

Colleen Cotton ◽

Elizabeth Bhoj ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

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

Human Molecular Genetics ◽

10.1093/hmg/4.10.1999 ◽

1995 ◽

Vol 4 (10) ◽

pp. 1999-2000 ◽

Cited By ~ 10

Author(s):

Masato Matsuki ◽

Kohji Hashimoto ◽

Kunihlko Yoshikawa ◽

Hirokazu Yasuno ◽

Kiyofuml Yamanishi

Keyword(s):

Missense Mutation ◽

Epidermolysis Bullosa ◽

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

Clinical and Experimental Dermatology ◽

10.1111/ced.12175 ◽

2013 ◽

Vol 39 (1) ◽

pp. 80-81 ◽

Cited By ~ 2

Author(s):

M. Jantke ◽

C. Has ◽

H. A. Haenssle ◽

M. P. Schön ◽

S. Emmert

Keyword(s):

Epidermolysis Bullosa ◽

Gene Variant ◽

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14

British Journal of Dermatology ◽

10.1111/bjd.15053 ◽

2017 ◽

Vol 177 (1) ◽

pp. 262-264 ◽

Cited By ~ 3

Author(s):

E. Kim ◽

A. Harris ◽

V. Hyland ◽

D.F. Murrell

Keyword(s):

Epidermolysis Bullosa ◽

Novel Mutations ◽

Digenic Inheritance

Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene

European Journal of Dermatology ◽

10.1684/ejd.2013.1995 ◽

2013 ◽

Vol 23 (2) ◽

pp. 267-269 ◽

Cited By ~ 1

Author(s):

Keiichi Uchiyama ◽

Gen Nakanishi ◽

Noriki Fujimoto ◽

Hajime Nakano ◽

Daisuke Sawamura ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Novel Mutation ◽

Japanese Family ◽

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

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12292263 ◽

1997 ◽

Vol 108 (5) ◽

pp. 809-810 ◽

Cited By ~ 42

Author(s):

Alan D. Irvine ◽

Kevin E. McKenna ◽

Hilary Jenkinson ◽

Anne E. Hughes

Keyword(s):

Epidermolysis Bullosa ◽

A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.2003.12424.x ◽

2003 ◽

Vol 121 (3) ◽

pp. 482-485 ◽

Cited By ~ 43

Author(s):

Li-Hong Gu ◽

Yoshiro Ichiki ◽

Miki Nagai ◽

Yasuo Kitajima ◽

Soo-Chan Kim ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Termination Codon ◽

Keratin 5 ◽

Codon Mutation

One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex

Clinical and Experimental Dermatology ◽

10.1111/j.1365-2230.2009.03703.x ◽

2009 ◽

Vol 34 (8) ◽

pp. e957-e961 ◽

Cited By ~ 6

Author(s):

H. Y. Tang ◽

W. D. Du ◽

Y. Cui ◽

X. Fan ◽

C. Quan ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Chinese Patients ◽

Keratin 5 ◽

Recurrent Mutations

307 Homozygous Biallelic KRT5 Mutations in Epidermolysis Bullosa Simplex, Including a Complete Human Keratin 5 “Knock-Out”, in Families with Extensive Consanguinity

Journal of Investigative Dermatology ◽

10.1016/j.jid.2019.07.308 ◽

2019 ◽

Vol 139 (9) ◽

pp. S267

Author(s):

H. Vahidnezhad ◽

L. Youssefian ◽

M. Daneshpazhooh ◽

H. Mahmoudi ◽

A. Kariminejad ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Knock Out ◽