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Results: 1 to 20 of 151

Similar articles for PubMed (Select 21357940)

1.

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

Kiritsi D, Kern JS, Schumann H, Kohlhase J, Has C, Bruckner-Tuderman L.

J Med Genet. 2011 Jul;48(7):450-7. doi: 10.1136/jmg.2010.086751. Epub 2011 Feb 28.

PMID:
21357940
2.

Autosomal dominant junctional epidermolysis bullosa.

Almaani N, Liu L, Dopping-Hepenstal PJ, Lovell PA, Lai-Cheong JE, Graham RM, Mellerio JE, McGrath JA.

Br J Dermatol. 2009 May;160(5):1094-7. doi: 10.1111/j.1365-2133.2008.08977.x. Epub 2009 Dec 16.

PMID:
19120338
3.

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.

Floeth M, Bruckner-Tuderman L.

Am J Hum Genet. 1999 Dec;65(6):1530-7.

4.

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, Kanaan M, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E.

J Am Acad Dermatol. 2002 Apr;46(4):510-6.

PMID:
11907499
5.

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.

Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF.

Br J Dermatol. 2007 May;156(5):861-70. Epub 2007 Jan 30.

PMID:
17263807
6.

Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.

Nakamura H, Sawamura D, Goto M, Nakamura H, Kida M, Ariga T, Sakiyama Y, Tomizawa K, Mitsui H, Tamaki K, Shimizu H.

Int J Mol Med. 2006 Aug;18(2):333-7.

PMID:
16820943
7.

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

Schumann H, Hammami-Hauasli N, Pulkkinen L, Mauviel A, Küster W, Lüthi U, Owaribe K, Uitto J, Bruckner-Tuderman L.

Am J Hum Genet. 1997 Jun;60(6):1344-53.

8.

Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.

Bauer JW, Lanschuetzer C.

Clin Exp Dermatol. 2003 Jan;28(1):53-60. Review.

PMID:
12558632
9.

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J.

Hum Genet. 2002 Jan;110(1):41-51. Epub 2001 Nov 13.

PMID:
11810295
10.

Laminin 332 in junctional epidermolysis bullosa.

Kiritsi D, Has C, Bruckner-Tuderman L.

Cell Adh Migr. 2013 Jan-Feb;7(1):135-41. doi: 10.4161/cam.22418. Epub 2012 Oct 17. Review.

11.
12.

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.

McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J.

Nat Genet. 1995 Sep;11(1):83-6.

PMID:
7550320
13.

Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.

Sproule TJ, Bubier JA, Grandi FC, Sun VZ, Philip VM, McPhee CG, Adkins EB, Sundberg JP, Roopenian DC.

PLoS Genet. 2014 Feb 13;10(2):e1004068. doi: 10.1371/journal.pgen.1004068. eCollection 2014 Feb.

14.

Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.

McGrath JA, Ashton GH, Mellerio JE, Salas-Alanis JC, Swensson O, McMillan JR, Eady RA.

J Invest Dermatol. 1999 Sep;113(3):314-21.

15.

Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

Posteraro P, De Luca N, Meneguzzi G, El Hachem M, Angelo C, Gobello T, Tadini G, Zambruno G, Castiglia D.

J Invest Dermatol. 2004 Oct;123(4):639-48.

16.

Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.

Pasmooij AM, Nijenhuis M, Brander R, Jonkman MF.

J Invest Dermatol. 2012 May;132(5):1374-83. doi: 10.1038/jid.2011.477. Epub 2012 Feb 9.

17.

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.

Yuen WY, Pas HH, Sinke RJ, Jonkman MF.

Br J Dermatol. 2011 Jun;164(6):1280-4. doi: 10.1111/j.1365-2133.2011.10359.x.

PMID:
21466533
18.

Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen.

Pasmooij AM, van der Steege G, Pas HH, Smitt JH, Nijenhuis AM, Zuiderveen J, Jonkman MF.

Br J Dermatol. 2004 Sep;151(3):669-74.

PMID:
15377356
19.

Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.

Mabuchi E, Umegaki N, Murota H, Nakamura T, Tamai K, Katayama I.

Br J Dermatol. 2007 Sep;157(3):596-8. Epub 2007 Jun 26.

PMID:
17596158
20.

Generalized atrophic benign epidermolysis bullosa.

Darling TN, Bauer JW, Hintner H, Yancey KB.

Adv Dermatol. 1997;13:87-119; discussion 120. Review.

PMID:
9551142
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