Research output per year
Research output per year
- 27 results
Search results
-
2024
Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma
Verkerk, A. J. M. H., Andrei, D., Vermeer, M. C. S. C., Kramer, D., Schouten, M., Arp, P., Verlouw, J. A. M., Pas, H. H., Meijer, H. J., van der Molen, M., Oberdorf-Maass, S., Nijenhuis, M., Romero-Herrera, P. H., Hoes, M. F., Bremer, J., Slotman, J. A., van den Akker, P. C., Diercks, G. F. H., Giepmans, B. N. G. & Stoop, H. & 10 others, , Feb-2024, In: Journal of Investigative Dermatology. 144, 2, p. 284-295.e16 28 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)35 Downloads (Pure) -
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes
Andrei, D., Bremer, J., Kramer, D., Nijenhuis, A. M., van der Molen, M., Diercks, G. F. H., van den Akker, P. C., Vermeer, M. C. S. C., van der Meer, P. & Bolling, M. C., Mar-2024, In: Experimental dermatology. 33, 3, 7 p., e15046.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)31 Downloads (Pure) -
Patients suffering from dystrophic epidermolysis bullosa are prone to developing autoantibodies against skin proteins: A longitudinal confirmational study
Bremer, J., Pas, H. H., Diercks, G. F. H., Meijer, H. J., van der Molen, S. M., Nijenhuis, A. M., van Nijen-Vos, L. L., Morandé, P., Yubero, M. J., Palisson, F., Fuentes, I. & Pasmooij, A. M. G., Feb-2024, In: Experimental dermatology. 33, 2, 5 p., e15035.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)15 Downloads (Pure) -
2022
Functional investigation of two simultaneous or separately segregating DSP variants within a single family support the theory of a dose-dependent disease severity
Vermeer, M. C. S. C., Andrei, D., Kramer, D., Nijenhuis, A. M., Hoedemaekers, Y. M., Westers, H., Jongbloed, J. D. H., Pas, H. H., van den Berg, M. P., Silljé, H. H. W., van der Meer, P. & Bolling, M. C., 2022, In: Experimental dermatology. 31, 6, p. 970-979 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)134 Downloads (Pure) -
2021
Comparison of Two Diagnostic Assays for Anti-Laminin 332 Mucous Membrane Pemphigoid
Goletz, S., Giurdanella, F., Holtsche, M. M., Nijenhuis, M., Horvath, B., Diercks, G. F. H., Zillikens, D., Hashimoto, T., Schmidt, E. & Pas, H. H., 25-Nov-2021, In: Frontiers in Immunology. 12, 7 p., 773720.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile14 Citations (Scopus)115 Downloads (Pure) -
2020
Keratinocyte footprint assay discriminates antilaminin-332 pemphigoid from all other forms of pemphigoid diseases
Giurdanella, F., Nijenhuis, A. M., Diercks, G. F. H., Jonkman, M. F. & Pas, H. H., Feb-2020, In: British Journal of Dermatology. 182, 2, p. 373-381 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile21 Citations (Scopus)179 Downloads (Pure) -
2018
Keratinocyte Binding Assay Identifies Anti-Desmosomal Pemphigus Antibodies Where Other Tests Are Negative
Giurdanella, F., Nijenhuis, A. M., Diercks, G. F. H., Jonkman, M. F. & Pas, H. H., 24-Apr-2018, In: Frontiers in Immunology. 9, 5 p., 839.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile13 Citations (Scopus)266 Downloads (Pure) -
2015
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex
Gostynska, K. B., Nijenhuis, M., Lemmink, H., Pas, H., Pasmooij, A. M. G., Lang, K. K., Castanon, M. J., Wiche, G. & Jonkman, M. F., 1-Jun-2015, In: Human Molecular Genetics. 24, 11, p. 3155-3162 8 p.Research output: Contribution to journal › Article › Academic › peer-review
45 Citations (Scopus)19 Downloads (Pure) -
2012
Natural Gene Therapy in Dystrophic Epidermolysis Bullosa
van den Akker, P. C., Nijenhuis, A., Hofstra, R. M. W., Jonkman, M. F., Pasmooij, A. M. G. & Meijer, G., Feb-2012, In: Archives of Dermatology. 148, 2, p. 213-216 4 p.Research output: Contribution to journal › Article › Academic › peer-review
24 Citations (Scopus) -
Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations
Pasmooij, A. M. G., Nijenhuis, A., Brander, R. & Jonkman, M. F., May-2012, In: Journal of Investigative Dermatology. 132, 5, p. 1374-1383 10 p.Research output: Contribution to journal › Article › Academic › peer-review
53 Citations (Scopus) -
2010
Revertant Mosaicism Due to a Second-Site Mutation in COL7A1 in a Patient with Recessive Dystrophic Epidermolysis Bullosa
Pasmooij, A. M. G., Garcia, M., Escamez, M. J., Nijenhuis, A. M., Azon, A., Cuadrado-Corrales, N., Jonkman, M. F. & Del Rio, M., Oct-2010, In: Journal of Investigative Dermatology. 130, 10, p. 2407-2411 5 p.Research output: Contribution to journal › Article › Academic › peer-review
52 Citations (Scopus) -
2009
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype-genotype correlations
van den Akker, P. C., van Essen, A. J., Kraak, M. M. J., Meijer, R., Nijenhuis, A., Hofstra, R. M. W., Pas, H. H., Scheffer, H., Jonkman, M. F. & Meijer, G., Oct-2009, In: Journal of dermatological science. 56, 1, p. 9-18 10 p.Research output: Contribution to journal › Article › Academic › peer-review
31 Citations (Scopus) -
2006
Two major 5 '-untranslated regions for type XVII collagen mRNA
van Zalen, S., Nijenhuis, A., Jonkman, M. F. & Pas, H. H., Jul-2006, In: Journal of dermatological science. 43, 1, p. 11-19 9 p.Research output: Contribution to journal › Article › Academic › peer-review
5 Citations (Scopus) -
2005
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
Pasmooij, A., Pas, H., Deviaene, F., Nijenhuis, A. & Jonkman, M., Nov-2005, In: American Journal of Human Genetics. 77, 5, p. 727-740 14 p.Research output: Contribution to journal › Article › Academic › peer-review
70 Citations (Scopus) -
2004
A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain
Pasmooij, A., van Zalen, S., Nijenhuis, A., Kloosterhuis, A., Zuiderveen, J., Jonkman, M. & Pas, H., Feb-2004, In: Experimental dermatology. 13, 2, p. 125-128 4 p.Research output: Contribution to journal › Article › Academic › peer-review
20 Citations (Scopus) -
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen
Pasmooij, A., Van der Steege, G., Pas, H., Smitt, J., Nijenhuis, A., Zuiderveen, J. & Jonkman, M., Sept-2004, In: British Journal of Dermatology. 151, 3, p. 669-674 6 p.Research output: Contribution to journal › Article › Academic › peer-review
17 Citations (Scopus) -
2002
Deletion of a cytoplasmic domain of integrin beta 4 causes epidermolysis bullosa simplex
Jonkman, M., Pas, H., Nijenhuis, A., Kloosterhuis, G. & van der Steege, G., Dec-2002, In: Journal of Investigative Dermatology. 119, 6, p. 1275-1281 7 p.Research output: Contribution to journal › Article › Academic › peer-review
63 Citations (Scopus) -
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex
Schuilenga-Hut, P., Scheffer, H., Pas, H., Nijenhuis, A., Buys, C. & Jonkman, M., Apr-2002, In: Journal of Investigative Dermatology. 118, 4, p. 626-630 5 p.Research output: Contribution to journal › Article › Academic › peer-review
64 Citations (Scopus) -
2000
Two type XVII collagen (BP180) mRNA transcripts in human keratinocytes: a long and a short form
Molnar, K., van der Steege, G., Jonkman, M., Nijenhuis, A., Husz, S., van der Meer, J. & Pas, H., Jan-2000, In: Clinical and Experimental Dermatology. 25, 1, p. 71-76 6 p.Research output: Contribution to journal › Article › Academic › peer-review
8 Citations (Scopus) -
1999
Type XVII collagen (BP180) and LAD-1 are present as separate trimeric complexes
Pas, H., Kloosterhuis, G., Nijenhuis, A., de Jong, M., van der Meer, J. & Jonkman, M., Jan-1999, In: Journal of Investigative Dermatology. 112, 1, p. 58-61 4 p.Research output: Contribution to journal › Article › Academic › peer-review
18 Citations (Scopus) -
1998
Hypothyroidism in the rat results in decreased soleus motoneurone soma size
Bakels, R., Nijenhuis, A., Mast, L. & Kernell, D., 2-Oct-1998, In: Neuroscience Letters. 254, 3, p. 149-152 4 p.Research output: Contribution to journal › Article › Academic › peer-review
8 Citations (Scopus) -
1997
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion
Jonkman, M., Scheffer, H., Stulp, R., Pas, H., Nijenhuis, A., Heeres, K., Owaribe, K., Pulkkinen, L. & Uitto, J., 21-Feb-1997, In: Cell. 88, 4, p. 543-551 9 p.Research output: Contribution to journal › Article › Academic › peer-review
225 Citations (Scopus) -
1996
Crosslinked poly(L-lactide) and poly(epsilon-caprolactone)
Nijenhuis, A., Grijpma, D. & Pennings, A., Jun-1996, In: Polymer. 37, 13, p. 2783-2791 9 p.Research output: Contribution to journal › Article › Academic › peer-review
104 Citations (Scopus) -
High molecular weight poly(L-lactide) and poly(ethylene oxide) blends: Thermal characterization and physical properties
Nijenhuis, A., Colstee, E., Grijpma, D. & Pennings, A., Dec-1996, In: Polymer. 37, 26, p. 5849-5857 9 p.Research output: Contribution to journal › Article › Academic › peer-review
467 Citations (Scopus) -
1995
Antitumor reactivity induced by liposomal MTP-PE in a liver metastasis model of colon cancer in the rat
THOMAS, K., NIJENHUIS, A., DONTJE, B. H. J., DAEMEN, T. & SCHERPHOF, G., Sept-1995, In: Clinical & Experimental Metastasis. 13, 5, p. 328-336 9 p.Research output: Contribution to journal › Article › Academic › peer-review
9 Citations (Scopus) -
Tumoricidal response of liver macrophages isolated from rats bearing liver metastases of colon adenocarcinoma
Thomas, C., Nijenhuis, A. M., Dontje, B., Daemen, T. & Scherphof, G. L., Apr-1995, In: Journal of Leukocyte Biology. 57, 4, p. 617-623 7 p.Research output: Contribution to journal › Article › Academic › peer-review
24 Citations (Scopus) -
1993
LIVER METASTASIS MODEL OF COLON-CANCER IN THE RAT - IMMUNOHISTOCHEMICAL CHARACTERIZATION
THOMAS, C., NIJENHUIS, A., TIMENS, W., KUPPEN, P., DAEMEN, T. & SCHERPHOF, G., 1993, In: Invasion & metastasis. 13, 2, p. 102-112 11 p.Research output: Contribution to journal › Article › Academic › peer-review
49 Citations (Scopus)