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Results: 1 to 20 of 224

1.

Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.

Väisänen L, Has C, Franzke C, Hurskainen T, Tuomi ML, Bruckner-Tuderman L, Tasanen K.

J Invest Dermatol. 2005 Dec;125(6):1112-8.

PMID:
16354180
[PubMed - indexed for MEDLINE]
Free Article
2.

Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain.

Tasanen K, Floeth M, Schumann H, Bruckner-Tuderman L.

J Invest Dermatol. 2000 Aug;115(2):207-12.

PMID:
10951237
[PubMed - indexed for MEDLINE]
Free Article
3.

A disease-associated glycine substitution in BP180 (type XVII collagen) leads to a local destabilization of the major collagen triple helix.

Olague-Marchan M, Twining SS, Hacker MK, McGrath JA, Diaz LA, Giudice GJ.

Matrix Biol. 2000 Jul;19(3):223-33.

PMID:
10936447
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.

Huber M, Floeth M, Borradori L, Schäcke H, Rugg EL, Lane EB, Frenk E, Hohl D, Bruckner-Tuderman L.

J Invest Dermatol. 2002 Jan;118(1):185-92.

PMID:
11851893
[PubMed - indexed for MEDLINE]
Free Article
6.

Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.

Tasanen K, Eble JA, Aumailley M, Schumann H, Baetge J, Tu H, Bruckner P, Bruckner-Tuderman L.

J Biol Chem. 2000 Feb 4;275(5):3093-9.

PMID:
10652291
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.

Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynänen M, McGrath JA, Uitto J.

Am J Hum Genet. 1997 Feb;60(2):352-65.

PMID:
9012408
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.

Pulkkinen L, Marinkovich MP, Tran HT, Lin L, Herron GS, Uitto J.

J Invest Dermatol. 1999 Dec;113(6):1114-8.

PMID:
10636730
[PubMed - indexed for MEDLINE]
Free Article
10.

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.

Darling TN, Yee C, Koh B, McGrath JA, Bauer JW, Uitto J, Hintner H, Yancey KB.

J Invest Dermatol. 1998 Feb;110(2):165-9.

PMID:
9457913
[PubMed - indexed for MEDLINE]
Free Article
11.

A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain.

Pasmooij AM, van Zalen S, Nijenhuis AM, Kloosterhuis AJ, Zuiderveen J, Jonkman MF, Pas HH.

Exp Dermatol. 2004 Feb;13(2):125-8.

PMID:
15009107
[PubMed - indexed for MEDLINE]
12.

C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation.

Franzke CW, Has C, Schulte C, Huilaja L, Tasanen K, Aumailley M, Bruckner-Tuderman L.

J Biol Chem. 2006 Oct 6;281(40):30260-8. Epub 2006 Aug 9.

PMID:
16899459
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Shedding of collagen XVII/BP180: structural motifs influence cleavage from cell surface.

Franzke CW, Tasanen K, Borradori L, Huotari V, Bruckner-Tuderman L.

J Biol Chem. 2004 Jun 4;279(23):24521-9. Epub 2004 Mar 26.

PMID:
15047704
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

The cell adhesion domain of type XVII collagen promotes integrin-mediated cell spreading by a novel mechanism.

Nykvist P, Tasanen K, Viitasalo T, Kapyla J, Jokinen J, Bruckner-Tuderman L, Heino J.

J Biol Chem. 2001 Oct 19;276(42):38673-9. Epub 2001 Aug 20.

PMID:
11514543
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PMID:
10577906
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.

Darling TN, McGrath JA, Yee C, Gatalica B, Hametner R, Bauer JW, Pohla-Gubo G, Christiano AM, Uitto J, Hintner H, Yancey KB.

J Invest Dermatol. 1997 Apr;108(4):463-8.

PMID:
9077475
[PubMed - indexed for MEDLINE]
19.

Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.

Floeth M, Fiedorowicz J, Schäcke H, Hammami-Hausli N, Owaribe K, Trüeb RM, Bruckner-Tuderman L.

J Invest Dermatol. 1998 Sep;111(3):528-33.

PMID:
9740252
[PubMed - indexed for MEDLINE]
20.

Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa.

Takizawa Y, Hiraoka Y, Takahashi H, Ishiko A, Yasuraoka I, Hashimoto I, Aiso S, Nishikawa T, Shimizu H.

J Invest Dermatol. 2000 Aug;115(2):312-6.

PMID:
10951252
[PubMed - indexed for MEDLINE]
Free Article

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