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3. Kinetochore Malfunction in Human Pathologies

Author

de Wolf, Bas, Kops, Geert J. P. L., COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, Gotta, Monica, editor, and Meraldi, Patrick, editor

Published
2017
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4. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

Author

Sub Bioinformatics, Theoretical Biology and Bioinformatics, de Wolf, Bas, Oghabian, Ali, Akinyi, Maureen V, Hanks, Sandra, Tromer, Eelco C, van Hooff, Jolien J E, van Voorthuijsen, Lisa, van Rooijen, Laura E, Verbeeren, Jens, Uijttewaal, Esther C H, Baltissen, Marijke P A, Yost, Shawn, Piloquet, Philippe, Vermeulen, Michiel, Snel, Berend, Isidor, Bertrand, Rahman, Nazneen, Frilander, Mikko J, Kops, Geert J P L, Sub Bioinformatics, Theoretical Biology and Bioinformatics, de Wolf, Bas, Oghabian, Ali, Akinyi, Maureen V, Hanks, Sandra, Tromer, Eelco C, van Hooff, Jolien J E, van Voorthuijsen, Lisa, van Rooijen, Laura E, Verbeeren, Jens, Uijttewaal, Esther C H, Baltissen, Marijke P A, Yost, Shawn, Piloquet, Philippe, Vermeulen, Michiel, Snel, Berend, Isidor, Bertrand, Rahman, Nazneen, Frilander, Mikko J, and Kops, Geert J P L

Published
2021

5. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

Author

CMM USEQ Facility, CMM Groep Burgering, Hubrecht Institute with UMC, de Wolf, Bas, Oghabian, Ali, Akinyi, Maureen V., Hanks, Sandra, Tromer, Eelco C., van Hooff, Jolien J.E., van Voorthuijsen, Lisa, van Rooijen, Laura E., Verbeeren, Jens, Uijttewaal, Esther C.H., Baltissen, Marijke P.A., Yost, Shawn, Piloquet, Philippe, Vermeulen, Michiel, Snel, Berend, Isidor, Bertrand, Rahman, Nazneen, Frilander, Mikko J., Kops, Geert J.P.L., CMM USEQ Facility, CMM Groep Burgering, Hubrecht Institute with UMC, de Wolf, Bas, Oghabian, Ali, Akinyi, Maureen V., Hanks, Sandra, Tromer, Eelco C., van Hooff, Jolien J.E., van Voorthuijsen, Lisa, van Rooijen, Laura E., Verbeeren, Jens, Uijttewaal, Esther C.H., Baltissen, Marijke P.A., Yost, Shawn, Piloquet, Philippe, Vermeulen, Michiel, Snel, Berend, Isidor, Bertrand, Rahman, Nazneen, Frilander, Mikko J., and Kops, Geert J.P.L.

Published
2021

6. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC

Author

Wolf, Bas, primary, Oghabian, Ali, additional, Akinyi, Maureen V, additional, Hanks, Sandra, additional, Tromer, Eelco C, additional, Hooff, Jolien J E, additional, Voorthuijsen, Lisa, additional, Rooijen, Laura E, additional, Verbeeren, Jens, additional, Uijttewaal, Esther C H, additional, Baltissen, Marijke P A, additional, Yost, Shawn, additional, Piloquet, Philippe, additional, Vermeulen, Michiel, additional, Snel, Berend, additional, Isidor, Bertrand, additional, Rahman, Nazneen, additional, Frilander, Mikko J, additional, and Kops, Geert J P L, additional

Published
2021
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7. Chromosomal instability by mutations in a novel specificity factor of the minor spliceosome

Author

de Wolf, Bas, primary, Oghabian, Ali, additional, Akinyi, Maureen V., additional, Hanks, Sandra, additional, Tromer, Eelco C., additional, van Hooff, Jolien, additional, van Voorthuijsen, Lisa, additional, van Rooijen, Laura E., additional, Verbeeren, Jens, additional, Uijttewaal, Esther C.H., additional, Baltissen, Marijke P.A., additional, Yost, Shawn, additional, Piloquet, Philippe, additional, Vermeulen, Michiel, additional, Snel, Berend, additional, Isidor, Bertrand, additional, Rahman, Nazneen, additional, Frilander, Mikko J., additional, and Kops, Geert J.P.L., additional

Published
2020
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9. Mosaic Variegated Aneuploidy: Elucidating the molecular causes of constitutional aneuploidy in humans

Author

de Wolf, Bas and de Wolf, Bas

Abstract

Mosaic Variegated Aneuploidy (MVA) is a rare developmental disorder characterized by a clinically heterogeneous phenotype and the presence of mosaic aneuploidies (predominantly trisomies and monosomies of mostly random chromosomes). These aneuploid cells are most likely the result of chromosome segregation errors in mitosis, as disease-causing mutations were found in the mitotic genes BUB1B and CEP57. Although several theories have been proposed, it is currently unclear what is the molecular mechanism of pathogenicity underlying MVA and whether the presence of aneuploid cells contributes to it. The aim of this thesis was to investigate the molecular causes of aneuploidy in MVA and to uncover MVA’s underlying pathogenic mechanism. We first summarized the current knowledge about the processes governing mitosis and about the disorders that are associated with mutations in kinetochore genes (chapter 2). In the subsequent chapters, we presented clinical case studies of MVA patients in which we identified disease-causing mutations in mitotic regulators (TRIP13, CENATAC, KNL1, and ZWINT), and our findings concerning the molecular causes of CIN and aneuploidy in these patients (chapters 3/4/5). In chapter 3, we showed that patient mutations in both BUB1B and TRIP13 led to a severe impairment of the spindle assembly checkpoint (SAC) and that there is a strikingly strong correlation between mutations in these two genes and the occurrence of specific childhood cancers in MVA patients. Moreover, all patients with mutations in TRIP13 had developed Wilms tumors, and we subsequently identified non-MVA patients with Wilms tumors that also had germline TRIP13 mutations. TRIP13 may therefore be a Wilms tumor suppressor gene. In chapter 4, we identified CENATAC as a novel component of the minor spliceosome and showed that CENATAC depletion led to missplicing of a newly identified minor intron subtype, which in turn caused a chromosome congression defect in mitosis. In chapter 5, we sh

Published
2020

10. Etidronate halts systemic arterial calcification in pseudoxanthoma elasticum

Author

Researchgr. Systems Radiology, Regenerative Medicine and Stem Cells, Cancer, Infection & Immunity, Circulatory Health, Strategische Impuls RvB ISI, Beeldverwerking ISI, Brain, MS Radiologie, MS Interne Geneeskunde, Bartstra, Jonas W., de Jong, Pim A., Kranenburg, Guido, Wolterink, Jelmer M., Isgum, Ivana, Wijsman, Alayna, Wolf, Bas, den Harder, Annemarie M., Mali, Willem P.Th M., Spiering, Wilko, Researchgr. Systems Radiology, Regenerative Medicine and Stem Cells, Cancer, Infection & Immunity, Circulatory Health, Strategische Impuls RvB ISI, Beeldverwerking ISI, Brain, MS Radiologie, MS Interne Geneeskunde, Bartstra, Jonas W., de Jong, Pim A., Kranenburg, Guido, Wolterink, Jelmer M., Isgum, Ivana, Wijsman, Alayna, Wolf, Bas, den Harder, Annemarie M., Mali, Willem P.Th M., and Spiering, Wilko

Published
2020

11. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

Author

Yost, Shawn, primary, de Wolf, Bas, additional, Hanks, Sandra, additional, Zachariou, Anna, additional, Marcozzi, Chiara, additional, Clarke, Matthew, additional, de Voer, Richarda M, additional, Etemad, Banafsheh, additional, Uijttewaal, Esther, additional, Ramsay, Emma, additional, Wylie, Harriet, additional, Elliott, Anna, additional, Picton, Susan, additional, Smith, Audrey, additional, Smithson, Sarah, additional, Seal, Sheila, additional, Ruark, Elise, additional, Houge, Gunnar, additional, Pines, Jonathon, additional, Kops, Geert J P L, additional, and Rahman, Nazneen, additional

Published
2017
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14. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

Author

Yost, Shawn, De Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda M, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah F., Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathon, Kops, Geert J.P.L., Rahman, Nazneen, Yost, Shawn, De Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda M, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah F., Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathon, Kops, Geert J.P.L., and Rahman, Nazneen

Published
2017

15. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

Author

CMM, CMM USEQ Facility, Hubrecht Institute with UMC, Cancer, Yost, Shawn, De Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda M, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah F., Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathon, Kops, Geert J.P.L., Rahman, Nazneen, CMM, CMM USEQ Facility, Hubrecht Institute with UMC, Cancer, Yost, Shawn, De Wolf, Bas, Hanks, Sandra, Zachariou, Anna, Marcozzi, Chiara, Clarke, Matthew, de Voer, Richarda M, Etemad, Banafsheh, Uijttewaal, Esther, Ramsay, Emma, Wylie, Harriet, Elliott, Anna, Picton, Susan, Smith, Audrey, Smithson, Sarah F., Seal, Sheila, Ruark, Elise, Houge, Gunnar, Pines, Jonathon, Kops, Geert J.P.L., and Rahman, Nazneen

Published
2017

16. Kinetochore malfunction in human pathologies

Author

CMM USEQ Facility, CMM, Hubrecht Institute with UMC, Cancer, de Wolf, Bas, Kops, Geert J.P.L., CMM USEQ Facility, CMM, Hubrecht Institute with UMC, Cancer, de Wolf, Bas, and Kops, Geert J.P.L.

Published
2017

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