Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 104

Similar articles for PubMed (Select 22437315)

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.

[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
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.

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
6.

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
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.

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
9.

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
10.

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
11.

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
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.

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
14.

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
15.

Expression signature of epidermolysis bullosa simplex.

Bchetnia M, Tremblay ML, Leclerc G, Dupérée A, Powell J, McCuaig C, Morin C, Legendre-Guillemin V, Laprise C.

Hum Genet. 2012 Mar;131(3):393-406. doi: 10.1007/s00439-011-1077-7. Epub 2011 Aug 30.

PMID:
21877134
16.

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.

17.

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

Yasukawa K, Sawamura D, Goto M, Nakamura H, Jung SY, Kim SC, Shimizu H.

Br J Dermatol. 2006 Aug;155(2):313-7.

PMID:
16882168
18.

Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation.

Sugiyama-Fukamatsu H, Suzuki N, Nakanishi G, Iwatsuki K.

J Dermatol. 2009 Aug;36(8):447-52. doi: 10.1111/j.1346-8138.2009.00674.x.

PMID:
19691749
19.

Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.

Saeki H, Nakamura K, Tsunemi Y, Komine M, Tamaki K.

J Dermatol. 2006 Oct;33(10):692-5.

PMID:
17040498
20.

A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex.

Bowden PE, Knight AG, Liovic M.

Exp Dermatol. 2009 Jul;18(7):650-2. doi: 10.1111/j.1600-0625.2008.00820.x. Epub 2009 Feb 8.

PMID:
19220453
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk