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Items: 1 to 20 of 463

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

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
8.

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
9.

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
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.

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.

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

Arch Dermatol Res. 2005 Jun;296(12):577-9. Epub 2005 Apr 13.

PMID:
15827748
12.

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
13.

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].

Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse T, Jensen PK, Eiberg H, Bolund L, Gregersen N.

Ugeskr Laeger. 2000 Mar 27;162(13):1873-6. Danish.

PMID:
10765693
14.

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E.

Arch Dermatol. 2003 Apr;139(4):498-505. Erratum in: Arch Dermatol. 2003 Aug;139(8):1084.

PMID:
12707098
15.

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Wertheim-Tysarowska K, Ołdak M, Giza A, Kutkowska-Kaźmierczak A, Sota J, Przybylska D, Woźniak K, Śniegórska D, Niepokój K, Sobczyńska-Tomaszewska A, Rygiel AM, Płoski R, Bal J, Kowalewski C.

J Appl Genet. 2016 May;57(2):175-81. doi: 10.1007/s13353-015-0310-9. Epub 2015 Oct 2.

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
17.
18.

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
19.

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
20.

Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.

Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF.

Am J Med Genet. 1999 Oct 8;86(4):376-9.

PMID:
10494094
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