Search

Your search keyword '"Pas, Hendri H."' showing total 367 results
Start Over Author "Pas, Hendri H."
367 results on '"Pas, Hendri H."'

1. Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma

Author

Verkerk, Annemieke J.M.H., Andrei, Daniela, Vermeer, Mathilde C.S.C., Kramer, Duco, Schouten, Marloes, Arp, Pascal, Verlouw, Joost A.M., Pas, Hendri H., Meijer, Hillegonda J., van der Molen, Marije, Oberdorf-Maass, Silke, Nijenhuis, Miranda, Romero-Herrera, Pedro H., Hoes, Martijn F., Bremer, Jeroen, Slotman, Johan A., van den Akker, Peter C., Diercks, Gilles F.H., Giepmans, Ben N.G., Stoop, Hans, Saris, Jasper J., van den Ouweland, Ans M.W., Willemsen, Rob, Hublin, Jean-Jacques, Dean, M. Christopher, Hoogeboom, A. Jeannette M., Silljé, Herman H.W., Uitterlinden, André G., van der Meer, Peter, and Bolling, Maria C.

Published
2024
Full Text
View/download PDF

5. Paraneoplastic Pemphigus

Author

Poot, Angelique M., Diercks, Gilles F. H., Pas, Hendri H., Jonkman, Marcel F., Horváth, Barbara, and Horváth, Barbara, editor

Published
2022
Full Text
View/download PDF

6. Differences in IgG autoantibody Fab glycosylation across autoimmune diseases

Author

Koers, Jana, Sciarrillo, Rocco, Derksen, Ninotska I.L., Vletter, Esther M., Fillié-Grijpma, Yvonne E., Raveling-Eelsing, Elisabeth, Graça, Nuno A.G., Leijser, Thiemo, Pas, Hendri H., Laura van Nijen-Vos, L., Braham, Maaike V.J., Buisman, Anne-Marie, de Jong, Jan, Schriek, Angela I., Tio-Gillen, Anne P., Teng, Y.K. Onno, Steenhuis, Maurice, Swaneveld, Francis H., de Taeye, Steven W., van Gils, Marit J., Verschuuren, Jan J.G.M., Rutgers, Bram, Heeringa, Peter, Horváth, Barbara, Jacobs, Bart C., de Leeuw, Karina, Franssen, Casper F.M., Veyradier, Agnès, Coppo, Paul, Gelderman, Kyra A., Marieke van Ham, S., van Els, Cécile A.C.M., van der Woude, Diane, Huizinga, Ruth, Huijbers, Maartje G., Kuijpers, Taco W., Toes, Rene E.M., Bos, Nicolaas A., and Rispens, Theo

Published
2023
Full Text
View/download PDF

8. Pathogenic Activation and Therapeutic Blockage of FcαR-Expressing Polymorphonuclear Leukocytes in IgA Pemphigus

Author

Emtenani, Shirin, Ghorbanalipoor, Saeedeh, Mayer-Hain, Sarah, Kridin, Khalaf, Komorowski, Lars, Probst, Christian, Hashimoto, Takashi, Pas, Hendri H., Męcińska-Jundziłł, Kaja, Czajkowski, Rafał, Recke, Andreas, Sunderkötter, Cord, Schneider, Stefan W., Hundt, Jennifer E., Zillikens, Detlef, Schmidt, Enno, Ludwig, Ralf J., and Hammers, Christoph M.

Published
2021
Full Text
View/download PDF

9. Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma

Author

Verkerk, Annemieke J M H, Andrei, Daniela, Vermeer, Mathilde C S C, Kramer, Duco, Schouten, Marloes, Arp, Pascal, Verlouw, Joost A M, Pas, Hendri H, Meijer, Hillegonda J, van der Molen, Marije, Oberdorf-Maass, Silke, Nijenhuis, Miranda, Romero-Herrera, Pedro H, Hoes, Martijn F, Bremer, Jeroen, Slotman, Johan A, van den Akker, Peter C, Diercks, Gilles F H, Giepmans, Ben N G, Stoop, Hans, Saris, Jasper, van den Ouweland, Ans M W, Willemsen, Rob, Hublin, Jean-Jacques, Dean, M Christopher, Hoogeboom, A Jeannette M, Silljé, Herman H W, Uitterlinden, André G, van der Meer, Peter, Bolling, Maria C, Verkerk, Annemieke J M H, Andrei, Daniela, Vermeer, Mathilde C S C, Kramer, Duco, Schouten, Marloes, Arp, Pascal, Verlouw, Joost A M, Pas, Hendri H, Meijer, Hillegonda J, van der Molen, Marije, Oberdorf-Maass, Silke, Nijenhuis, Miranda, Romero-Herrera, Pedro H, Hoes, Martijn F, Bremer, Jeroen, Slotman, Johan A, van den Akker, Peter C, Diercks, Gilles F H, Giepmans, Ben N G, Stoop, Hans, Saris, Jasper, van den Ouweland, Ans M W, Willemsen, Rob, Hublin, Jean-Jacques, Dean, M Christopher, Hoogeboom, A Jeannette M, Silljé, Herman H W, Uitterlinden, André G, van der Meer, Peter, and Bolling, Maria C

Abstract

Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss-of-function variants in desmosomal genes leads to a variety of skin- and heart-related phenotypes. In this study, we report TUFT1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair, and mild palmoplantar keratoderma but without a cardiac phenotype, we identified a homozygous splice-site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of TUFT1 protein. Patients’ skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that TUFT1 is positioned within the desmosome and that its location is dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1-knockout mouse model mimicked the patients’ phenotypes. Altogether, this study reveals TUFT1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair, and palmoplantar keratoderma.

Published
2024

10. Beyond the skin: B cells in pemphigus vulgaris, tolerance and treatment.

Author

Strandmoe, Anne-Lise, Bremer, Jeroen, Diercks, Gilles F H, Gostyński, Antoni, Ammatuna, Emanuele, Pas, Hendri H, Wouthuyzen-Bakker, Marjan, Huls, Gerwin A, Heeringa, Peter, Laman, Jon D, and Horváth, Barbara

Subjects
PEMPHIGUS vulgaris, B cells, BULLOUS pemphigoid, SOLAR cells, AUTOIMMUNE diseases, DISEASE relapse
Abstract

Pemphigus vulgaris (PV) is a rare autoimmune bullous disease characterized by blistering of the skin and mucosa owing to the presence of autoantibodies against the desmosome proteins desmoglein 3 and occasionally in conjunction with desmoglein 1. Fundamental research into the pathogenesis of PV has revolutionized its treatment and outcome with rituximab, a B-cell-depleting therapy. The critical contribution of B cells to the pathogenesis of pemphigus is well accepted. However, the exact pathomechanism, mechanisms of onset, disease course and relapse remain unclear. In this narrative review, we provide an overview of the fundamental research progress that has unfolded over the past few centuries to give rise to current and emerging therapies. Furthermore, we summarize the multifaceted roles of B cells in PV, including their development, maturation and antibody activity. Finally, we explored how these various aspects of B-cell function contribute to disease pathogenesis and pave the way for innovative therapeutic interventions. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

15. Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma

Author

Verkerk, Annemieke J.M.H., primary, Andrei, Daniela, additional, Vermeer, Mathilde C.S.C., additional, Kramer, Duco, additional, Schouten, Marloes, additional, Arp, Pascal, additional, Verlouw, Joost A.M., additional, Pas, Hendri H., additional, Meijer, Hillegonda J., additional, van der Molen, Marije, additional, Oberdorf-Maass, Silke, additional, Nijenhuis, Miranda, additional, Romero-Herrera, Pedro H., additional, Hoes, Martijn F., additional, Bremer, Jeroen, additional, Slotman, Johan A., additional, van den Akker, Peter C., additional, Diercks, Gilles F.H., additional, Giepmans, Ben N.G., additional, Stoop, Hans, additional, Saris, Jasper J., additional, van den Ouweland, Ans M.W., additional, Willemsen, Rob, additional, Hublin, Jean-Jacques, additional, Dean, M.Christopher, additional, Hoogeboom, A.Jeannette M., additional, Silljé, Herman H.W., additional, Uitterlinden, André G., additional, van der Meer, Peter, additional, and Bolling, Maria C., additional

Published
2023
Full Text
View/download PDF

25. Natural Occurrence of Autoantibodies against Basement Membrane Proteins in Epidermolysis Bullosa

Author

Gostyński, Antoni, primary, Diercks, Gilles F.H., additional, Escamez, Maria-José, additional, Chandran, Nisha Suyien, additional, de Lucas, Raúl, additional, Garcia-Martin, Adela, additional, Del Rio, Marcela, additional, Bremer, Jeroen, additional, Bolling, Maria C., additional, Meana, Alvaro, additional, Llames, Sara G., additional, Schmidt, Enno, additional, Ludwig, Ralf, additional, Jonkman, Marcel F., additional, Pas, Hendri H., additional, and Pasmooij, Anna M.G., additional

Published
2022
Full Text
View/download PDF

26. Direct immunofluorescence microscopy

Author

Diercks, Gilles F.H., Pas, Hendri H., Diercks, Gilles F.H., and Pas, Hendri H.

Abstract

Direct immunofluorescence plays an important role in the diagnosis of autoimmune blistering diseases. The purpose of direct immunofluorescence microscopy is to detect in vivo antibodies in patient's skin or mucosa. Direct immunofluorescence of pemphigus shows depositions of immunoglobulins and/or complement on the epithelial cell surface of keratinocytes, whereas pemphigoid shows linear deposition of immunoglobulins along the epidermal basement membrane zone. This linear deposition can be separated in an n-serrated pattern and a u-serrated pattern. An n-serrated pattern is seen in blistering diseases with binding above the lamina densa with antibodies against hemidesmosomal components, e.g. bullous pemphigoid, while a u-serrated pattern points to a sublamina densa binding diseases caused by autoantibodies against type VII collagen, e.g. epidermolysis bullosa acquisita. Finally, dermatitis herpetiformis shows a granular IgA deposition along the epidermal basement membrane zone.

Published
2022

27. Indirect immunofluorescence microscopy

Author

Diercks, Gilles F.H., Pas, Hendri H., Diercks, Gilles F.H., and Pas, Hendri H.

Abstract

The purpose of indirect immunofluorescence microscopy is to detect circulating antibodies in patient's serum. For this purpose an adequate substrate is necessary to visualize these antibodies. Monkey esophagus is the most widely used substrate for detecting of circulating autoantibodies in patients with autoimmune blistering diseases. In all variants of pemphigus antibodies show an epithelial cell surface pattern, resulting from present autoantibodies against the desmosomal molecules desmoglein 1 and/or 3. This pattern is also called chicken wire or honeycomb pattern. In pemphigoid a linear deposition along the epithelial basement membrane can be observed, caused by autoantibodies against hemidesmosomes or their connecting proteins underneath. Human salt split skin is a valuable substrate in the diagnosis of subepidermal autoimmune blistering diseases. Important antigens in the roof of salt split skin are type XVII collagen (BP180) and BP230, whereas laminin 332, p200 and type IV collagen are situated in the floor of the blister. This implies that bullous pemphigoid, mucous membrane pemphigoid, pemphigoid gestationis, and lichen planus pemphigoides show staining of IgG on the epidermal side of the blister. On the other hand anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and bullous SLE show staining on the dermal side. Other less used, but valuable substrates in some instances, are rat bladder and knock-out skin.

Published
2022

28. Routine detection of serum antidesmocollin autoantibodies is only useful in patients with atypical pemphigus

Author

Dettmann, Inga M., Krüger, Stine, Fuhrmann, Tarek, Rentzsch, Kristin, Karl, Ingolf, Probst, Christian, Komorowski, Lars, Fechner, Kai, van Beek, Nina, Lemcke, Susanne, Sárdy, Miklós, Bangert, Christine, Benoit, Sandrine, Hashimoto, Takashi, Zillikens, Detlef, Pas, Hendri H., Jonkman, Marcel F., Stöcker, Winfried, and Schmidt, Enno

Published
2017
Full Text
View/download PDF

29. Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity

Author

Vermeer, Mathilde C. S. C., primary, Andrei, Daniela, additional, Kramer, Duco, additional, Nijenhuis, Albertine M., additional, Hoedemaekers, Yvonne M., additional, Westers, Helga, additional, Jongbloed, Jan D. H., additional, Pas, Hendri H., additional, van den Berg, Maarten P., additional, Silljé, Herman H. W., additional, van der Meer, Peter, additional, and Bolling, Maria C., additional

Published
2022
Full Text
View/download PDF

30. Potential correlation between anti-laminin 332 autoantibodies and malignant tumours in anti-BP180-type mucous membrane pemphigoid.

Author

Li, Xiaoguang, Pas, Hendri H, Qian, Hua, Rashid, Hanan, Horvath, Barbara, Yilmaz, Kaan, Beek, Nina van, Schmidt, Enno, Zillikens, Detlef, Ishii, Norito, Tsuruta, Daisuke, and Hashimoto, Takashi

Subjects
*INFORMED consent (Medical law), *GRANTS in aid (Public finance), *FISHER exact test, *ENZYME-linked immunosorbent assay, *RECOMBINANT proteins
Abstract

This article explores the potential correlation between anti-laminin 332 (LM332) autoantibodies and malignant tumors in patients with anti-BP180-type mucous membrane pemphigoid (MMP). The study recruited 520 patients with BP180-MMP from Japan, China, the Netherlands, and Germany. The results showed that the presence of anti-LM332 autoantibodies was significantly higher in the Asian cohort compared to the European cohort. Additionally, there was a positive correlation between anti-LM332 autoantibodies and malignant tumors in the European cohorts. However, further investigation is needed to understand the variations in results and the impact of different diagnostic methodologies. [Extracted from the article]

Published
2024
Full Text
View/download PDF

31. Paraneoplastic pemphigus: A detailed case series from the Netherlands revealing atypical cases.

Author

Zaheri, Farhat, Pas, Hendri H., Bremer, Jeroen, Meijer, Joost M., Bolling, Marieke C., Horvath, Barbara, and Diercks, Gilles F. H.

Subjects
*PEMPHIGUS, *DIAGNOSTIC errors, *DELAYED diagnosis
Abstract

Background: Paraneoplastic pemphigus (PNP) is an extremely rare life‐threatening blistering autoimmune disease that is associated with an underlying neoplasm. There is a set diagnostic criterion for PNP, which is primarily based on a severe stomatitis and the detection of specific antibodies against envoplakin, periplakin and alpha‐2‐macroglobulin‐like protein 1. However, it has become increasingly evident that there are patients with PNP that do not meet all the diagnostic criteria requirements. Objectives: The aim of this study was to analyse our cohort of Dutch patients and to define the atypical cases that did not meet the diagnostic criteria. Methods: A retrospective case study of all known Dutch PNP patients of the past 25 years. Patients' clinical and immunological variables were thoroughly analysed and described. Results: Twenty‐four patients were included in this study. The results revealed several atypical patient cases that did not completely meet the set diagnostic criteria. Of the 24 patients, two patients presented without stomatitis, in three patients an underlying neoplasm could not be detected, and in two patients the presence of specific autoantibodies could not be demonstrated, although all other criteria for PNP were met. Finally, three of the 24 patients survived the disease. Conclusion: Although our findings showed similarities to previous studies and most of the patients met the criteria, there were a few atypical patient cases; highlighting the importance of not strictly adhering to the set criteria when making a diagnosis, as this can lead to a missed or late diagnosis. Thus, it is of crucial importance to combine clinical and elaborate laboratory results to confirm the diagnosis of PNP in suspected patients. Although PNP harbours an unfavourable prognosis in most cases, it might be resolved by timely treatment of the underlying cause. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

34. Paraneoplastic Pemphigus

Author

Poot, Angelique M., primary, Diercks, Gilles F. H., additional, Pas, Hendri H., additional, and Jonkman, Marcel F., additional

Published
2015
Full Text
View/download PDF

38. Direct Evidence of Endothelial Dysfunction and Glycocalyx Loss in Dermal Biopsies of Patients With Chronic Kidney Disease and Their Association With Markers of Volume Overload

Author

Koch, Josephine, primary, Hijmans, Ryanne S., additional, Ossa Builes, Manuela, additional, Dam, Wendy A., additional, Pol, Robert A., additional, Bakker, Stephan J. L., additional, Pas, Hendri H., additional, Franssen, Casper F. M., additional, and van den Born, Jacob, additional

Published
2021
Full Text
View/download PDF

43. Paraneoplastic pemphigus associated with post‐transplant lymphoproliferative disorder after small bowel transplantation

Author

Fidder, Sander A. R., primary, Bolling, Marieke C., additional, Diercks, Gilles F. H., additional, Pas, Hendri H., additional, Hooimeijer, Louise H. L., additional, Bungener, Laura B., additional, Willemse, Brigitte W. M., additional, Scheenstra, Rene, additional, Stapelbroek, Janneke M., additional, and van der Doef, Hubert P. J., additional

Published
2021
Full Text
View/download PDF

46. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3

Author

Pasmooij, Anna M.G., Pas, Hendri H., Bolling, Maria C., and Jonkman, Marcel F.

Subjects
Mosaicism -- Research, Mosaicism -- Care and treatment, Mosaicism -- Risk factors, Mosaicism -- Analysis, Skin diseases -- Risk factors, Skin diseases -- Research, Skin diseases -- Care and treatment, Skin diseases -- Analysis, Epidermolysis bullosa -- Research, Epidermolysis bullosa -- Care and treatment, Epidermolysis bullosa -- Analysis
Abstract

Revertant mosaicism due to in vivo reversion of an inherited mutation has been described in the genetic skin disease epidermolysis bullosa (EB) for the genes KRT14 and COL17A1. Here we [...]

Published
2007

48. Autoantibody Detection for Diagnosis in Direct Immunofluorescence-Negative Mucous Membrane Pemphigoid

Author

Dart, John, primary, Setterfield, Jane, additional, Groves, Richard W., additional, Mee, John B., additional, Diercks, Gilles F.H., additional, Pas, Hendri H., additional, Minassian, Darwin, additional, Booth, Debbie, additional, Reid, Elaina, additional, Carnt, Nicole, additional, Gugliemetti, Stefano, additional, Shanmuganathan, Vijay, additional, Watson, Martin, additional, Saw, Valerie, additional, Wilkins, Mark, additional, McCudden, Vicky, additional, Ahmad, Saj, additional, Bunce, Catey, additional, Calder, Virginia, additional, Challacombe, Stephen, additional, Gleeson, Mike, additional, Ali, Sarah, additional, Lund, Valerie, additional, and Sandhu, Guri, additional

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results