Results 81 to 90 of about 2,607 (202)

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24.

PLoS ONE, 2016
PurposeTo report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24.MethodsWhole-exome sequencing was performed on DNA samples from five affected family members and two unrelated ...
Benjamin R Lin, Derek J Le, Yabin Chen, Qiwei Wang, D Doug Chung, Ricardo F Frausto, Christopher Croasdale, Richard W Yee, Fielding J Hejtmancik, Anthony J Aldave   +9 more
doaj   +1 more source

Human eosinophils express the high affinity IgE receptor, FcεRI, in bullous pemphigoid.

PLoS ONE, 2014
Bullous pemphigoid (BP) is an autoimmune blistering disease mediated by autoantibodies targeting BP180 (type XVII collagen). Patient sera and tissues typically have IgG and IgE autoantibodies and elevated eosinophil numbers. Although the pathogenicity of
Kelly N Messingham, Heather M Holahan, Alexandra S Frydman, Colleen Fullenkamp, Rupasree Srikantha, Janet A Fairley   +5 more
doaj   +1 more source

Type XVII collagen (BP 180) in the developing avian cornea.

Investigative ophthalmology & visual science, 1997
Previous sequence analyses of hemidesmosomal BP 180/collagen XVII cDNA from human skin and of a similar chicken corneal cDNA showed some similarities, but major differences as well. The authors examined whether, in one species, the same mRNA is present in cornea and skin. They also studied the developmental expression of the molecule and compared it to
M K, Gordon, J M, Fitch, J W, Foley, D R, Gerecke, C, Linsenmayer, D E, Birk, T F, Linsenmayer   +6 more
openaire   +1 more source

Truncated Type XVII Collagen Expression in a Patient with Non-Herlitz Junctional Epidermolysis Bullosa Caused by a Homozygous Splice-Site Mutation [PDF]

, 2001
Manuel R. van Leusden, Hendri H. Pas, Tobias Gedde‐Dahl, Arnoud Sonnenberg, Marcel F. Jonkman   +4 more
openalex   +1 more source

Interaction of BP180 (Type XVII Collagen) and α6 Integrin is Necessary for Stabilization of Hemidesmosome Structure [PDF]

, 1998
Susan B. Hopkinson, Kirk A. Findlay, Gregory W. deHart, Jonathan Jones   +3 more
openalex   +1 more source

Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans

Frontiers in Immunology, 2019
Bullous pemphigoid (BP) is the most prevalent autoimmune skin blistering disease and is characterized by the generation of autoantibodies against the hemidesmosomal proteins BP180 (type XVII collagen) and BP230.
Juliane Russlies, Anke Fähnrich, Anke Fähnrich, Mareike Witte, Mareike Witte, Junping Yin, Sandrine Benoit, Sandrine Benoit, Regine Gläser, Regine Gläser, Claudia Günter, Claudia Günter, Rüdiger Eming, Rüdiger Eming, Jeanette Erdmann, Damian Gola, Yask Gupta, Maike Marleen Holtsche, Johannes S. Kern, Johannes S. Kern, Johannes S. Kern, Inke R. König, Dimitra Kiritsi, Dimitra Kiritsi, Wolfgang Lieb, Wolfgang Lieb, Christian D. Sadik, Miklós Sárdy, Miklós Sárdy, Miklós Sárdy, Franziska Schauer, Franziska Schauer, Nina van Beek, Anke Weidinger, Anke Weidinger, Margitta Worm, Margitta Worm, Detlef Zillikens, Detlef Zillikens, Enno Schmidt, Enno Schmidt, Enno Schmidt, Hauke Busch, Hauke Busch, Saleh M. Ibrahim, Saleh M. Ibrahim, Misa Hirose   +46 more
doaj   +1 more source

031 Type XVII collagen-specific CD4+ T cell clones induce bullous pemphigoid in mice by producing IL-5 [PDF]

, 2023
N. Yoshimoto, K. Muramatsu, Takamasa Ito, Mengchao Zheng, K. Izumi, K. Natsuga, H. Iwata, Y. Hasegawa, H. Ujiie   +8 more
openalex   +1 more source

Macropinocytosis of type XVII collagen induced by bullous pemphigoid IgG is regulated via protein kinase C [PDF]

, 2016
Hiroaki Iwata, Mayumi Kamaguchi, Hideyuki Ujiie, Machiko Nishimura, Kentaro Izumi, Ken Natsuga, Satoru Shinkuma, Wataru Nishie, Hiroshi Shimizu   +8 more
openalex   +1 more source

Type XVII Collagen Regulates Lamellipod Stability, Cell Motility, and Signaling to Rac1 by Targeting Bullous Pemphigoid Antigen 1e to α6β4 Integrin [PDF]

, 2011
Kevin J. Hamill, Susan B. Hopkinson, Marcel F. Jonkman, Jonathan Jones   +3 more
openalex   +1 more source

The Cell Adhesion Domain of Type XVII Collagen Promotes Integrin-mediated Cell Spreading by a Novel Mechanism [PDF]

, 2001
Petri Nykvist, Kaisa Tasanen, Tiina Viitasalo, Jarmo Käpylä, Johanna Jokinen, Leena Bruckner‐Tuderman, Jyrki Heino   +6 more
openalex   +1 more source