Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 118

1.

K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.

Wally V, Brunner M, Lettner T, Wagner M, Koller U, Trost A, Murauer EM, Hainzl S, Hintner H, Bauer JW.

Hum Mol Genet. 2010 Dec 1;19(23):4715-25. doi: 10.1093/hmg/ddq405. Epub 2010 Sep 22.

PMID:
20861136
2.

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
3.

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.

Rugg EL, Rachet-Préhu MO, Rochat A, Barrandon Y, Goossens M, Lane EB, Hovnanian A.

Eur J Hum Genet. 1999 Apr;7(3):293-300.

4.

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E.

Cell. 1991 Sep 20;66(6):1301-11.

PMID:
1717157
5.

A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.

Batta K, Rugg EL, Wilson NJ, West N, Goodyear H, Lane EB, Gratian M, Dopping-Hepenstal P, Moss C, Eady RA.

Br J Dermatol. 2000 Sep;143(3):621-7.

PMID:
10971341
6.

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.

Premaratne C, Klingberg S, Glass I, Wright K, Murrell D.

Australas J Dermatol. 2002 Feb;43(1):28-34.

PMID:
11869205
7.
8.

[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
9.

The design and optimization of RNA trans-splicing molecules for skin cancer therapy.

Gruber C, Koller U, Murauer EM, Hainzl S, Hüttner C, Kocher T, South AP, Hintner H, Bauer JW.

Mol Oncol. 2013 Dec;7(6):1056-68. doi: 10.1016/j.molonc.2013.08.005. Epub 2013 Aug 19.

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.

Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases.

D'Alessandro M, Morley SM, Ogden PH, Liovic M, Porter RM, Lane EB.

Gene Ther. 2004 Aug;11(16):1290-5.

PMID:
15215887
12.

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
13.

A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex.

Umeki K, Nomura K, Harada K, Hashimoto I.

J Dermatol Sci. 1996 Jan;11(1):64-9.

PMID:
8867769
14.

Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing.

Mansfield SG, Kole J, Puttaraju M, Yang CC, Garcia-Blanco MA, Cohn JA, Mitchell LG.

Gene Ther. 2000 Nov;7(22):1885-95.

15.

In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.

Banerjee S, Wu Q, Yu P, Qi M, Li C.

Mol Biosyst. 2014 Oct;10(10):2567-77. doi: 10.1039/c4mb00138a.

PMID:
25017986
16.

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.

Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E.

Genes Dev. 1994 Nov 1;8(21):2574-87.

17.

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
18.

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
19.

5' trans-splicing repair of the PLEC1 gene.

Wally V, Klausegger A, Koller U, Lochmüller H, Krause S, Wiche G, Mitchell LG, Hintner H, Bauer JW.

J Invest Dermatol. 2008 Mar;128(3):568-74. Epub 2007 Nov 8.

20.

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

Supplemental Content

Support Center