Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 162

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.

Kang TW, Lee JS, Kim SE, Oh SW, Kim SC.

J Dermatol Sci. 2010 Feb;57(2):90-4. doi: 10.1016/j.jdermsci.2009.12.002. Epub 2010 Jan 8.

PMID:
20060687
[PubMed - indexed for MEDLINE]
4.

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

Jerábková B, Marek J, Bucková H, Kopecková L, Veselý K, Valícková J, Fajkus J, Fajkusová L.

Br J Dermatol. 2010 May;162(5):1004-13. doi: 10.1111/j.1365-2133.2009.09626.x. Epub 2010 Feb 25.

PMID:
20030639
[PubMed - indexed for MEDLINE]
5.

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M.

Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x.

PMID:
21623745
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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

Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H.

Hum Mutat. 2003 Apr;21(4):447. Review.

PMID:
12655565
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Müller FB, Küster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ.

Hum Mutat. 2006 Jul;27(7):719-20.

PMID:
16786515
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.
12.

Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.

Glàsz-Bóna A, Medvecz M, Virágh Z, Hatvani Z, Blazsek A, Kárpáti S.

Eur J Dermatol. 2010 Nov-Dec;20(6):698-700. doi: 10.1684/ejd.2010.1080. Epub 2010 Oct 5.

PMID:
20923750
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

Rugg EL, Horn HM, Smith FJ, Wilson NJ, Hill AJ, Magee GJ, Shemanko CS, Baty DU, Tidman MJ, Lane EB.

J Invest Dermatol. 2007 Mar;127(3):574-80. Epub 2006 Oct 12.

PMID:
17039244
[PubMed - indexed for MEDLINE]
Free Article
15.

Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

Csikós M, Szalai Z, Becker K, Sebõk B, Schneider I, Horváth A, Kárpáti S.

Exp Dermatol. 2004 Mar;13(3):185-91.

PMID:
14987259
[PubMed - indexed for MEDLINE]
16.

Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex.

Roth W, Reuter U, Wohlenberg C, Bruckner-Tuderman L, Magin TM.

Hum Mutat. 2009 May;30(5):832-41. doi: 10.1002/humu.20981.

PMID:
19267394
[PubMed - indexed for MEDLINE]
17.

Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.

Schumann H, Roth W, Has C, Volz A, Erfurt-Berge C, Magin TM, Bruckner-Tuderman L.

Br J Dermatol. 2012 Oct;167(4):929-36. doi: 10.1111/j.1365-2133.2012.11075.x. Epub 2012 Sep 7.

PMID:
22639907
[PubMed - indexed for MEDLINE]
18.

[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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.

Sørensen CB, Andresen BS, Jensen UB, Jensen TG, Jensen PK, Gregersen N, Bolund L.

Exp Dermatol. 2003 Aug;12(4):472-9. Erratum in: Exp Dermatol. 2004 Jul;13(7):462.

PMID:
12930305
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk