Search

Your search keyword '"Pals, Gerard"' showing total 8 results
Start Over Author "Pals, Gerard" Journal frontiers in endocrinology
8 results on '"Pals, Gerard"'

3. Exploration of the skeletal phenotype of the Col1a1 +/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1

Author

Claeys, Lauria, Zhytnik, Lidiia, Wisse, Lisanne E., van Essen, Huib W., Eekhoff, E. Marelise W., Pals, Gerard, Bravenboer, Nathalie, Micha, Dimitra, Human genetics, AMS - Musculoskeletal Health, AMS - Tissue Function & Regeneration, Clinical chemistry, Internal medicine, Amsterdam Gastroenterology Endocrinology Metabolism, AMS - Ageing & Vitality, ACS - Atherosclerosis & ischemic syndromes, ACS - Microcirculation, Laboratory Medicine, and Laboratory Specialized Diagnostics & Reseach

Subjects
Endocrinology, Diabetes and Metabolism
Abstract

IntroductionOsteogenesis Imperfecta is a rare genetic connective tissue disorder, characterized by skeletal dysplasia and fragile bones. Currently only two mouse models have been reported for haploinsufficient (HI) mild Osteogenesis Imperfecta (OI); the Col1a1+/Mov13 (Mov13) and the Col1a1+/-365 mouse model. The Mov13 mice were created by random insertion of the Mouse Moloney leukemia virus in the first intron of the Col1a1 gene, preventing the initiation of transcription. Since the development of the Mov13 mice almost four decades ago and its basic phenotypic characterization in the 90s, there have not been many further studies. We aimed to extensively characterize the Mov13 mouse model in order to critically evaluate its possible use for preclinical studies of HI OI.MethodsBone tissue from ten heterozygous Mov13 and ten wild-type littermates (WT) C57BL/6J mice (50% males per group) was analyzed at eight weeks of age with bone histomorphometry, micro computed tomography (microCT), 3-point bending, gene expression of different collagens, as well as serum markers of bone turnoverResultsThe Mov13 mouse presented a lower bone strength and impaired material properties based on our results of 3-point bending and microCT analysis respectively. In contrast, no significant differences were found for all histomorphometric parameters. In addition, no significant differences in Col1a1 bone expression were present, but there was a significant lower P1NP concentration, a bone formation marker, measured in serum. Furthermore, bone tissue of Mov13 mice presented significantly higher expression of collagens (Col1a2, Col5a1 and Col5a2), and bone metabolism markers (Bglap, Fgf23, Smad7, Edn1 and Eln) compared to WT. Finally, we measured a significantly lower Col1a1 expression in heart and skin tissue and also determined a higher expression of other collagens in the heart tissue.ConclusionAlthough we did not detect a significant reduction in Col1a1 expression in the bone tissue, a change in bone structure and reduction in bone strength was noted. Regrettably, the variability of the bone phenotype and the appearance of severe lymphoma in adult Mov13 mice, does not favor their use for the testing of new long-term drug studies. As such, a new HI OI type 1 mouse model is urgently needed.

Published
2023

4. The intricate mechanism of PLS3 in bone homeostasis and disease.

Author

Wenchao Zhong, Pathak, Janak L., Yueting Liang, Zhytnik, Lidiia, Pals, Gerard, Eekhoff, Elisabeth M. W., Bravenboer, Nathalie, and Micha, Dimitra

Subjects
BONE diseases, TISSUE metabolism, SYMPTOMS, HOMEOSTASIS, BONE cells, MECHANOTRANSDUCTION (Cytology)
Abstract

Since our discovery in 2013 that genetic defects in PLS3 lead to bone fragility, the mechanistic details of this process have remained obscure. It has been established that PLS3 variants cause syndromic and nonsyndromic osteoporosis as well as osteoarthritis. PLS3 codes for an actin-bundling protein with a broad pattern of expression. As such, it is puzzling how PLS3 specifically leads to bone-related disease presentation. Our review aims to summarize the current state of knowledge regarding the function of PLS3 in the predominant cell types in the bone tissue, the osteocytes, osteoblasts and osteoclasts. This is related to the role of PLS3 in regulating mechanotransduction, calcium regulation, vesicle trafficking, cell differentiation and mineralization as part of the complex bone pathology presented by PLS3 defects. Considering the consequences of PLS3 defects on multiple aspects of bone tissue metabolism, our review motivates the study of its mechanism in bone diseases which can potentially help in the design of suitable therapy. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

5. Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

Author

Storoni, Silvia, primary, Treurniet, Sanne, additional, Maugeri, Alessandra, additional, Pals, Gerard, additional, van den Aardweg, Joost G., additional, van der Pas, Stéphanie L., additional, Elting, Mariet W., additional, Kloen, Peter, additional, Micha, Dimitra, additional, and Eekhoff, Elisabeth Marelise W., additional

Published
2022
Full Text
View/download PDF

6. Exploration of the skeletal phenotype of the Col1a1+/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1.

Author

Claeys, Lauria, Zhytnik, Lidiia, Wisse, Lisanne E., van Essen, Huib W., Eekhoff, E. Marelise W., Pals, Gerard, Bravenboer, Nathalie, and Micha, Dimitra

Subjects
OSTEOGENESIS imperfecta, X-ray computed microtomography, OSSEOINTEGRATION, LABORATORY mice, ANIMAL disease models, SKELETAL dysplasia, FIBRODYSPLASIA ossificans progressiva
Abstract

Introduction: Osteogenesis Imperfecta is a rare genetic connective tissue disorder, characterized by skeletal dysplasia and fragile bones. Currently only two mouse models have been reported for haploinsufficient (HI) mild Osteogenesis Imperfecta (OI); the Col1a1+/Mov13 (Mov13) and the Col1a1+/-365 mouse model. The Mov13 mice were created by random insertion of the Mouse Moloney leukemia virus in the first intron of the Col1a1 gene, preventing the initiation of transcription. Since the development of the Mov13 mice almost four decades ago and its basic phenotypic characterization in the 90s, there have not been many further studies. We aimed to extensively characterize the Mov13 mouse model in order to critically evaluate its possible use for preclinical studies of HI OI. Methods: Bone tissue from ten heterozygous Mov13 and ten wild-type littermates (WT) C57BL/6J mice (50% males per group) was analyzed at eight weeks of age with bone histomorphometry, micro computed tomography (microCT), 3-point bending, gene expression of different collagens, as well as serum markers of bone turnover Results: The Mov13 mouse presented a lower bone strength and impaired material properties based on our results of 3-point bending and microCT analysis respectively. In contrast, no significant differences were found for all histomorphometric parameters. In addition, no significant differences in Col1a1 bone expression were present, but there was a significant lower P1NP concentration, a bone formation marker, measured in serum. Furthermore, bone tissue of Mov13 mice presented significantly higher expression of collagens (Col1a2, Col5a1 and Col5a2), and bone metabolism markers (Bglap, Fgf23, Smad7, Edn1 and Eln) compared to WT. Finally, we measured a significantly lower Collai expression in heart and skin tissue and also determined a higher expression of other collagens in the heart tissue. Conclusion: Although we did not detect a significant reduction in Collai expression in the bone tissue, a change in bone structure and reduction in bone strength was noted. Regrettably, the variability of the bone phenotype and the appearance of severe lymphoma in adult Mov13 mice, does not favor their use for the testing of new long-term drug studies. As such, a new HI OI type 1 mouse model is urgently needed. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

7. Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop

Author

de Ruiter, Ruben D., primary, Smilde, Bernard J., additional, Pals, Gerard, additional, Bravenboer, Nathalie, additional, Knaus, Petra, additional, Schoenmaker, Ton, additional, Botman, Esmée, additional, Sánchez-Duffhues, Gonzalo, additional, Pacifici, Maurizio, additional, Pignolo, Robert J., additional, Shore, Eileen M., additional, van Egmond, Marjolein, additional, Van Oosterwyck, Hans, additional, Kaplan, Frederick S., additional, Hsiao, Edward C., additional, Yu, Paul B., additional, Bocciardi, Renata, additional, De Cunto, Carmen Laura, additional, Longo Ribeiro Delai, Patricia, additional, de Vries, Teun J., additional, Hilderbrandt, Susanne, additional, Jaspers, Richard T., additional, Keen, Richard, additional, Koolwijk, Peter, additional, Morhart, Rolf, additional, Netelenbos, Jan C., additional, Rustemeyer, Thomas, additional, Scott, Christiaan, additional, Stockklausner, Clemens, additional, ten Dijke, Peter, additional, Triffit, James, additional, Ventura, Francesc, additional, Ravazzolo, Roberto, additional, Micha, Dimitra, additional, and Eekhoff, Elisabeth M. W., additional

Published
2021
Full Text
View/download PDF

8. Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center

Author

Eekhoff, Elisabeth M. W., primary, Micha, Dimitra, additional, Forouzanfar, Tymour, additional, de Vries, Teun J., additional, Netelenbos, J. Coen, additional, Klein-Nulend, Jenneke, additional, van Loon, Jack J. W. A., additional, Lubbers, Wouter D., additional, Schwarte, Lothar, additional, Schober, Patrick, additional, Raijmakers, Pieter G. H. M., additional, Teunissen, Bernd P., additional, de Graaf, Pim, additional, Lammertsma, Adriaan A., additional, Yaqub, Maqsood M., additional, Botman, Esmée, additional, Treurniet, Sanne, additional, Smilde, Bernard J., additional, Bökenkamp, Arend, additional, Boonstra, Anco, additional, Kamp, Otto, additional, Nieuwenhuijzen, Jakko A., additional, Visser, Marieke C., additional, Baayen, Hans J. C., additional, Dahele, Max, additional, Eeckhout, Guus A. M., additional, Goderie, Thadé P. M., additional, Smits, Cas, additional, Gilijamse, Marjolijn, additional, Karagozoglu, K. Hakki, additional, van de Valk, Paul, additional, Dickhoff, Chris, additional, Moll, Annette C., additional, Verbraak, Frank F. D., additional, Curro-Tafili, Katie K. R., additional, Ghyczy, Ebba A. E., additional, Rustemeyer, Thomas, additional, Saeed, Peeroz, additional, Maugeri, Alessandra, additional, Pals, Gerard, additional, Ridwan-Pramana, Angela, additional, Pekel, Esther, additional, Schoenmaker, Ton, additional, Lems, Willem, additional, Winters, Henri A. H., additional, Botman, Matthijs, additional, Giannakópoulos, Georgios F., additional, Koolwijk, Peter, additional, Janssen, Jeroen J. W. M., additional, Kloen, Peter, additional, Bravenboer, Nathalie, additional, Smit, Jan Maerten, additional, and Helder, Marco N., additional

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results