Zobrazeno 1 - 10 of 23 pro vyhledávání: '"Miranda Nijenhuis"'
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Akademický článek
Comparison of Two Diagnostic Assays for Anti-Laminin 332 Mucous Membrane Pemphigoid
Autor: Stephanie Goletz, Federica Giurdanella, Maike M. Holtsche, Miranda Nijenhuis, Barbara Horvath, Gilles F. H. Diercks, Detlef Zillikens, Takashi Hashimoto, Enno Schmidt, Hendri H. Pas
Publikováno v: Frontiers in Immunology, Vol 12 (2021)
Anti-laminin 332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by predominant mucosal lesions and autoantibodies against laminin 332. The exact diagnosis of anti-laminin 332 MMP is important since nearly 30% of pa
Externí odkaz: https://doaj.org/article/ababc5e370bd45299b68ae0f420b8693
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2
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex
Autor: Kristin Kernland Lang, Miranda Nijenhuis, Katarzyna B. Gostynska, Marcel F. Jonkman, Maria J. Castañón, Hendrikus Pas, Gerhard Wiche, Henny H. Lemmink, Anna M.G. Pasmooij
Publikováno v: Human Molecular Genetics, 24(11), 3155-3162. Oxford University Press
Gostyńska, Katarzyna B.; Nijenhuis, Miranda; Lemmink, Henny; Pas, Hendri H.; Pasmooij, Anna M.G.; Kernland Lang, Kristin; Castañón, Maria J.; Wiche, Gerhard; Jonkman, Marcel F. (2015). Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Human molecular genetics, 24(11), pp. 3155-3162. Oxford University Press 10.1093/hmg/ddv066
PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons comm
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd8f6645de9a7513236b8fa45cd826c
http://doc.rero.ch/record/299576/files/ddv066.pdf
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Particle Bombardment of Ex Vivo Skin to Deliver DNA and Express Proteins
Autor: Ena, Sokol, Miranda, Nijenhuis, Klaas A, Sjollema, Marcel F, Jonkman, Hendri H, Pas, Ben N G, Giepmans
Publikováno v: Methods in molecular biology (Clifton, N.J.). 1559
Particle bombardment of gold microparticles coated with plasmids, which are accelerated to high velocity, is used for transfection of cells within tissue. Using this method, cDNA encoding proteins of interest introduced into ex vivo living human skin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d3f87d975576dcbbe8f69c84d54fffe6
https://pubmed.ncbi.nlm.nih.gov/28063041
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4
Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy
Autor: Marta García, María José Escámez, Alvaro Meana, Antoni Gostyński, Sara Llames, Fernando Larcher, Hendri H. Pas, Marcel F. Jonkman, Anna M.G. Pasmooij, Miranda Nijenhuis, Lucía Martínez-Santamaría, Marcela Del Rio
Publikováno v: Journal of Investigative Dermatology, 134(2), 571-574. ELSEVIER SCIENCE INC
Digital.CSIC. Repositorio Institucional del CSIC
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Human Gene Therapy, 24(12). MARY ANN LIEBERT, INC
Letter to the Editor.-- et al.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb965c6ea898f42d25fb64f79ac9bf9e
https://doi.org/10.1038/jid.2013.308
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Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands
Autor: Hendri H. Pas, Robert M.W. Hofstra, Miranda Nijenhuis, Peter C. van den Akker, Marcel F. Jonkman, Hans Scheffer, Anthonie J. van Essen, Rowdy Meijer, Gonnie Meijer, Marian M.J. Kraak
Publikováno v: Journal of Dermatological Science, 56, 9-18
Journal of Dermatological Science, 56, 1, pp. 9-18
Journal of dermatological science, 56(1), 9-18
Background: The current classification of recessive dystrophic epidermolysis bullosa (RDEB) comprises two major subtypes: 'severe generalized RDEB'(RDEB-sev gen) with early-onset, extensive, generalized blistering and scarring, complete absence of ty
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0aa66de1a8a683654edc87d53d6d688
https://doi.org/10.1016/j.jdermsci.2009.06.015
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7
Two major 5 '-untranslated regions for type XVII collagen mRNA
Autor: Marcel F. Jonkman, Miranda Nijenhuis, Hendri H. Pas, Sebastiaan van Zalen
Publikováno v: Journal of dermatological science, 43(1), 11-19
Background: Type XVII collagen is an important structural component of keratinocyte hemidesmosomes and its functional loss in genetic or autoimmune disease results in blistering of the skin. In neoplastic tissue aberrant expression is seen dependent
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a914ae801b857bb0131e38171b7266d
https://doi.org/10.1016/j.jdermsci.2006.02.008
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Deletion of a Cytoplasmic Domain of Integrin β4 Causes Epidermolysis Bullosa Simplex1
Autor: Marcel F. Jonkman, Hendri H. Pas, Gerrit van der Steege, Miranda Nijenhuis, GJ Kloosterhuis
Publikováno v: Journal of Investigative Dermatology. 119(6):1275-1281
Integrin α6β4 is a hemidesmosomal transmembrane molecule involved in maintaining basal cell-matrix adhesion through interaction of the large intracytoplasmic tail of the β4 subunit with the keratin intermediate filament network, at least in part t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85f3a4a2c9c93a06522686ca077c930d
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9
Two type XVII collagen (BP180) mRNA transcripts in human keratinocytes: a long and a short form
Autor: Sándor Husz, Marcel F. Jonkman, J van der Meer, K Molnar, G van der Steege, Miranda Nijenhuis, Hendri H. Pas
Publikováno v: Clinical and Experimental Dermatology. 25:71-76
We have analysed BP180 mRNA expression in normal human keratinocytes. Here we report the presence in normal keratinocytes of two COL17A1 transcripts which differ by 0.6 kb in length. Both mRNAs hybridized on Northern blot with probes directed to sequ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3e21987e6a135c32a75c1305481f3219
https://doi.org/10.1046/j.1365-2230.2000.00578.x
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Type XVII Collagen (BP180) and LAD-1 are Present as Separate Trimeric Complexes
Autor: Marcelus C.J.M. de Jong, Hendri H. Pas, Marcel F. Jonkman, GJ Kloosterhuis, Miranda Nijenhuis, Jan van der Meer
Publikováno v: Journal of Investigative Dermatology, 112(1), 58-61. ELSEVIER SCIENCE INC
This study characterized the high molecular mass BP180 complex that is observed when unheated sodium dodecyl sulfate extracts of human skin or keratinocytes are subjected to sodium dodecyl sulfate-polyacrylamide gel electrophoresis and immunoblotting
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0ae9f3c6dd202ddd8849d1ae0da895a
https://doi.org/10.1046/j.1523-1747.1999.00464.x
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