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Items: 1 to 20 of 103

1.

Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation.

Arnold AW, Kiritsi D, Happle R, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C, Itin PH.

J Invest Dermatol. 2012 Aug;132(8):2100-3. doi: 10.1038/jid.2012.72. Epub 2012 Mar 22. No abstract available.

2.

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2010 Jun;162(6):1365-9. doi: 10.1111/j.1365-2133.2010.09657.x. Epub 2010 Feb 25.

PMID:
20199538
3.

Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex.

Minakawa S, Nakano H, Nakajima K, Matsuzaki Y, Takiyoshi N, Akasaka E, Rokunohe D, Sawamura D.

J Dermatol Sci. 2013 Dec;72(3):330-2. doi: 10.1016/j.jdermsci.2013.08.001. Epub 2013 Aug 12. No abstract available.

PMID:
23993914
4.

A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains.

Shinkuma S, Nishie W, Jacyk WK, Natsuga K, Ujiie H, Nakamura H, Akiyama M, Shimizu H.

Acta Derm Venereol. 2013 Sep 4;93(5):585-7. doi: 10.2340/00015555-1538. No abstract available.

5.

[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation].

Liu X, Xia L, Wang JX, Hao YJ, Yang J, Liu FQ, Guo R.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):612-5. doi: 10.3760/cma.j.issn.1003-9406.2011.06.003. Chinese.

PMID:
22161089
6.

Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy.

Geller L, Kristal L, Morel KD.

Pediatr Dermatol. 2013 Sep-Oct;30(5):631-2. doi: 10.1111/pde.12206. Epub 2013 Jul 26.

PMID:
23889190
7.

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.

Uchiyama K, Nakanishi G, Fujimoto N, Nakano H, Sawamura D, Tanaka T.

Eur J Dermatol. 2013 Apr 1;23(2):267-9. doi: 10.1684/ejd.2013.1995. No abstract available.

PMID:
23588208
8.

Weber-Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits.

Chiang YY, Chao SC, Chen WY, Lee WR, Wang KH.

Br J Dermatol. 2008 Dec;159(6):1370-2. doi: 10.1111/j.1365-2133.2008.08801.x. Epub 2008 Sep 1. No abstract available.

PMID:
18764844
9.

A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist.

Kowalewski C, Hamada T, Wozniak K, Kawano Y, Szczecinska W, Yasumoto S, Schwartz RA, Hashimoto T.

Int J Mol Med. 2007 Jul;20(1):75-8.

PMID:
17549391
10.

Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation.

Oh SW, Lee JS, Kim MY, Kim SC.

J Dermatol Sci. 2007 Dec;48(3):229-32. Epub 2007 Sep 12. No abstract available.

PMID:
17855059
11.

Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.

Pascucci M, Posteraro P, Pedicelli C, Provini A, Auricchio L, Paradisi M, Castiglia D.

Eur J Dermatol. 2006 Nov-Dec;16(6):620-2.

PMID:
17229601
12.

A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.

Flohil SC, Bolling MC, Kooi KA, Lemmink HH, Jonkman MF.

Eur J Dermatol. 2010 Jan-Feb;20(1):27-9. doi: 10.1684/ejd.2010.0804. Epub 2009 Oct 2.

PMID:
19797037
13.

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Bolling MC, Lemmink HH, Jansen GH, Jonkman MF.

Br J Dermatol. 2011 Mar;164(3):637-44. doi: 10.1111/j.1365-2133.2010.10146.x. Epub 2011 Feb 17.

PMID:
21375516
14.

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

Jantke M, Has C, Haenssle HA, Schön MP, Emmert S.

Clin Exp Dermatol. 2014 Jan;39(1):80-1. doi: 10.1111/ced.12175. Epub 2013 Jun 8. No abstract available.

PMID:
23746086
15.

Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family.

Schmieder A, Pasternack SM, Krahl D, Betz RC, Leverkus M.

J Am Acad Dermatol. 2012 Jun;66(6):e250-1. doi: 10.1016/j.jaad.2011.07.038. No abstract available.

PMID:
22583733
16.

Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness.

Homberg M, Ramms L, Schwarz N, Dreissen G, Leube RE, Merkel R, Hoffmann B, Magin TM.

J Invest Dermatol. 2015 Oct;135(10):2437-45. doi: 10.1038/jid.2015.184. Epub 2015 May 11.

PMID:
25961909
17.

Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.

Chamcheu JC, Virtanen M, Navsaria H, Bowden PE, Vahlquist A, Törmä H.

Br J Dermatol. 2010 May;162(5):980-9. doi: 10.1111/j.1365-2133.2009.09615.x. Epub 2010 Feb 1.

PMID:
20128788
18.

Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.

Wertheim-Tysarowska K, Sota J, Kutkowska-Kaźmierczak A, Woźniak K, Bal J, Kowalewski C.

Br J Dermatol. 2014 Feb;170(2):468-9. doi: 10.1111/bjd.12624. No abstract available.

PMID:
24024749
19.

A novel keratin 5 mutation in a familial cluster.

Lev-Tov H, Sivamani RK, Burrall B.

Dermatol Online J. 2012 Jun 15;18(6):1.

20.

Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.

Ołdak M, Szczecińska W, Przybylska D, Maksym RB, Podgórska M, Woźniak K, Płoski R, Kowalewski C.

J Dermatol Sci. 2011 Jan;61(1):64-7. doi: 10.1016/j.jdermsci.2010.11.002. Epub 2010 Nov 17. No abstract available.

PMID:
21144712
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