Search

Your search keyword '"Boven, Ludolf G."' showing total 34 results
Start Over Author "Boven, Ludolf G."
34 results on '"Boven, Ludolf G."'

3. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Author

Herkert, Johanna C., Verhagen, Judith M.A., Yotti, Raquel, Haghighi, Alireza, Phelan, Dean G., James, Paul A., Brown, Natasha J., Stutterd, Chloe, Macciocca, Ivan, Leong, Kai'En, Bulthuis, Marian L.C., van Bever, Yolande, van Slegtenhorst, Marjon A., Boven, Ludolf G., Roberts, Amy E., Agarwal, Radhika, Seidman, Jonathan, Lakdawala, Neal K., Fernández-Avilés, Francisco, Burke, Michael A., Pierpont, Mary Ella., Braunlin, Elizabeth, Ḉağlayan, Ahmet Okay, Barge-Schaapveld, Daniela Q.C.M., Birnie, Erwin, van Osch-Gevers, Lennie, van Langen, Irene M., Jongbloed, Jan D.H., Lockhart, Paul J., Amor, David J., Seidman, Christine E., and van de Laar, Ingrid M.B.H.

Published
2020
Full Text
View/download PDF

6. Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Author

Onderzoek Precision medicine, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Sectie Metabole Diagnostiek, Brain, Child Health, Cancer, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schuldt, Maike, van Driel, Beau O, Schmidt, Amand F, Christiaans, Imke, van der Crabben, Saskia N, Hoedemaekers, Yvonne M, Dooijes, Dennis, Jongbloed, Jan D H, Boven, Ludolf G, Deprez, Ronald H Lekanne, Wilde, Arthur A M, Jans, Judith J M, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, Baas, Annette F, Onderzoek Precision medicine, Genetica, Genetica Sectie Genoomdiagnostiek, Circulatory Health, Genetica Sectie Metabole Diagnostiek, Brain, Child Health, Cancer, Team Medisch, Genetica Klinische Genetica, Jansen, Mark, Schuldt, Maike, van Driel, Beau O, Schmidt, Amand F, Christiaans, Imke, van der Crabben, Saskia N, Hoedemaekers, Yvonne M, Dooijes, Dennis, Jongbloed, Jan D H, Boven, Ludolf G, Deprez, Ronald H Lekanne, Wilde, Arthur A M, Jans, Judith J M, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, and Baas, Annette F

Published
2023

7. Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Author

Jansen, Mark, primary, Schuldt, Maike, additional, van Driel, Beau O., additional, Schmidt, Amand F., additional, Christiaans, Imke, additional, van der Crabben, Saskia N., additional, Hoedemaekers, Yvonne M., additional, Dooijes, Dennis, additional, Jongbloed, Jan D. H., additional, Boven, Ludolf G., additional, Deprez, Ronald H. Lekanne, additional, Wilde, Arthur A. M., additional, Jans, Judith J. M., additional, van der Velden, Jolanda, additional, de Boer, Rudolf A., additional, van Tintelen, J. Peter, additional, Asselbergs, Folkert W., additional, and Baas, Annette F., additional

Published
2023
Full Text
View/download PDF

8. SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics

Author

Alimohamed, Mohamed Z., primary, Boven, Ludolf G., additional, van Dijk, Krista K., additional, Vos, Yvonne J., additional, Hoedemaekers, Yvonne M., additional, van der Zwaag, Paul A., additional, Sijmons, Rolf H., additional, Jongbloed, Jan D.H., additional, Sikkema-Raddatz, Birgit, additional, and Westers, Helga, additional

Published
2023
Full Text
View/download PDF

10. Abstract 18198: A Stepwise Approach Including Whole Exome Sequencing Targeting a Gene Panel for Paediatric Dilated Cardiomyopathy, Potentially Yields a Diagnosis in 50% of Patients

Author

Herkert, Johanna C, Abbott, Kristin M, Birnie, Erwin, Meems-Veldhuis, Martine T, Boven, Ludolf G, Benjamins, Maloes, du Marchie Sarvaas, Gideon J, Barge-Schaapveld, Daniela Q, van Tintelen, J. P, van der Zwaag, Paul A, Vos, Yvonne J, Sinke, Richard J, van den Berg, Maarten P, van Langen, Irene M, and Jongbloed, Jan D

Published
2017

11. Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy (Scientific Reports, (2019), 9, 1, (4093), 10.1038/s41598-019-39911-x)

Author

Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H., Jongbloed, Jan D. H., Boven, Ludolf G., van den Berg, Maarten P., Pinto, Yigal M., Alastalo, Tero-Pekka, Myllykangas, Samuel, van Spaendonck-Zwarts, Karin, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha, ACS - Pulmonary hypertension & thrombosis, Human Genetics, Cardiology, ACS - Heart failure & arrhythmias, and Amsterdam Reproduction & Development (AR&D)

Abstract

In the original version of this Article, the author J. Peter van Tintelen was incorrectly indexed. This error has now been corrected.

Published
2020

12. The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes

Author

Pathologie Pathologen staf, Circulatory Health, Dorsch, Larissa M, Kuster, Diederik W D, Jongbloed, Jan D H, Boven, Ludolf G, van Spaendonck-Zwarts, Karin Y, Suurmeijer, Albert J H, Vink, Aryan, du Marchie Sarvaas, Gideon J, van den Berg, Maarten P, van der Velden, Jolanda, Brundel, Bianca J J M, van der Zwaag, Paul A, Pathologie Pathologen staf, Circulatory Health, Dorsch, Larissa M, Kuster, Diederik W D, Jongbloed, Jan D H, Boven, Ludolf G, van Spaendonck-Zwarts, Karin Y, Suurmeijer, Albert J H, Vink, Aryan, du Marchie Sarvaas, Gideon J, van den Berg, Maarten P, van der Velden, Jolanda, Brundel, Bianca J J M, and van der Zwaag, Paul A

Published
2021

13. Homozygous nonsense mutations in KIAA 1279 are associated with malformations of the central and enteric nervous systems

Author

Brooks, Alice S., Bertoli-Avella, Aida M., Burzynski, Grzegorz M., Breedveld, Guido J., Osinga, Jan, Boven, Ludolf G., Hurst, Jane A., Mancini, Grazia M.S., Lequin, Maarten H., de Coo, Rene F., Matera, Ivana, de Graaff, Esther, Meijers, Carel, Willems, Patrick J., Tibboel, Dick, Oostra, Ben A., and Hofstra, Robert M.W.

Subjects
Genetic disorders -- Research, Human genetics -- Research, Biological sciences
Published
2005

15. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

Author

Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Zwaag, Paul A. van der, Willems, P.H.G.M., Berg, M.P van den, Rodenburg, R.J., Peter van Tintelen, J., Jongbloed, Jan D.H., Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Zwaag, Paul A. van der, Willems, P.H.G.M., Berg, M.P van den, Rodenburg, R.J., Peter van Tintelen, J., and Jongbloed, Jan D.H.

Abstract

Contains fulltext : 214462.pdf (Publisher’s version ) (Closed access)

Published
2020

16. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

Author

Genetica, UMC Utrecht, Genetica Klinische Genetica, Circulatory Health, ZL Neuro-Oncologie Medisch, Pathologie Laboratorium diagnostiek, Pathologie Pathologen staf, Cancer, Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Van Der Zwaag, Paul A., Willems, Peter H.G.M., Van Veen-Hof, Ingrid H., Verhagen, Judith M.A., Wessels, Marja W., Nikkels, Peter G.J., Wintjes, Liesbeth T., Van Den Berg, Maarten P., Sinke, Richard J., Rodenburg, Richard J., Niezen-Koning, Klary E., Van Tintelen, J. Peter, Jongbloed, Jan D.H., Genetica, UMC Utrecht, Genetica Klinische Genetica, Circulatory Health, ZL Neuro-Oncologie Medisch, Pathologie Laboratorium diagnostiek, Pathologie Pathologen staf, Cancer, Almomani, Rowida, Herkert, Johanna C., Posafalvi, Anna, Post, Jan G., Boven, Ludolf G., Van Der Zwaag, Paul A., Willems, Peter H.G.M., Van Veen-Hof, Ingrid H., Verhagen, Judith M.A., Wessels, Marja W., Nikkels, Peter G.J., Wintjes, Liesbeth T., Van Den Berg, Maarten P., Sinke, Richard J., Rodenburg, Richard J., Niezen-Koning, Klary E., Van Tintelen, J. Peter, and Jongbloed, Jan D.H.

Published
2020

17. Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy (Scientific Reports, (2019), 9, 1, (4093), 10.1038/s41598-019-39911-x)

Author

Genetica, Circulatory Health, Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H, Jongbloed, Jan D H, Boven, Ludolf G, van den Berg, Maarten P, Pinto, Yigal M, Alastalo, Tero-Pekka, Myllykangas, Samuel, van Spaendonck-Zwarts, Karin, van Tintelen, J Peter, van der Zwaag, Paul A, Koskenvuo, Juha, Genetica, Circulatory Health, Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H, Jongbloed, Jan D H, Boven, Ludolf G, van den Berg, Maarten P, Pinto, Yigal M, Alastalo, Tero-Pekka, Myllykangas, Samuel, van Spaendonck-Zwarts, Karin, van Tintelen, J Peter, van der Zwaag, Paul A, and Koskenvuo, Juha

Published
2020

18. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

Author

Almomani, Rowida, primary, Herkert, Johanna C, additional, Posafalvi, Anna, additional, Post, Jan G, additional, Boven, Ludolf G, additional, van der Zwaag, Paul A, additional, Willems, Peter H G M, additional, van Veen-Hof, Ingrid H, additional, Verhagen, Judith M A, additional, Wessels, Marja W, additional, Nikkels, Peter G J, additional, Wintjes, Liesbeth T, additional, van den Berg, Maarten P, additional, Sinke, Richard J, additional, Rodenburg, Richard J, additional, Niezen-Koning, Klary E, additional, van Tintelen, J Peter, additional, and Jongbloed, Jan D H, additional

Published
2019
Full Text
View/download PDF

19. A stepwise approach including whole exome sequencing targeting a gene panel for paediatric dilated cardiomyopathy, potentially yields a diagnosis in 50% of patients

Author

Herkert, Johanna C., Abbott, Kristin M., Birnie, Erwin, Meems-Veldhuis, Martine T., Boven, Ludolf G., Benjamins, Maloes, Sarvaas, Gideon J. du Marchie, Barge-Schaapveld, Daniela Q., van Tintelen, J. P., van der Zwaag, Paul A., Vos, Yvonne J., Sinke, Richard J., van den Berg, Maarten P., van Langen, Irene M., Jongbloed, Jan D., Cardiovascular Centre (CVC), Reproductive Origins of Adult Health and Disease (ROAHD), and Health Psychology Research (HPR)

Subjects
GM1 gangliosidosis, endogenous compound, diagnosis, phenotype, centronuclear myopathy, whole exome sequencing, incidental finding, male, prevention, single nucleotide polymorphism, congestive cardiomyopathy, sodium channel Nav1.5, heterozygosity, human, microcephaly, ontology, filtration, child, troponin T, gene deletion, adult, copy number variation, cohort analysis, major clinical study, female, young adult, diagnostic value, homozygosity, mutation, myosin heavy chain beta
Abstract

Introduction: Dilated cardiomyopathy (DCM) is a progressive disease of heart muscle with an incidence of approximately 0.57 per 100,000 children in the US. The spectrum and frequency of mutations in known DCM genes differ among adults, children, and infants. Aim: To evaluate the diagnostic yield of genome-wide copy number variation (CNV) analysis and trio Whole Exome Sequencing (WES) with targeted analysis of genes implicated in paediatric DCM. Methods: We identified 95 cases (from 85 families) diagnosed with DCM before 18 years of age. Thirteen families with a genetic diagnosis that was previously established by other sequencing techniques were excluded, and 41 families for other reasons. In 31 carefully phenotyped probands CNV-analysis (SNP-array) and trio-WES were performed. Human Phenotype Ontology (HPO)-terms were used for data filtering. Results: A (likely) genetic diagnosis could be made in 14/31 families (45.2%). (Likely) pathogenic heterozygous variants were identified in TNNT2, SCN5A, TTN, MYH7 (4), MYL2 (2) and TPM1, and homozygous variants in SPEG (centronuclear myopathy) and GLB1 (GM1-gangliosidosis) using WES, as well as an 1p36.33p36.32 and an 10q25.2 deletion, using SNP-array. Compound heterozygous mutations in CEP135 (primary microcephaly) were identified in a child with syndromic DCM. Five patients carried autosomal recessive disease mutations that did not explain their phenotypes. Conclusions: WES and CNV-analysis yielded diagnoses for 45% of our cohort. In 8/10 families 'solved' by WES a causal variant in a well-known DCM gene was identified. When CNV-analysis and WES would have been applied as primary tests to all patients, the potential yield could increase to approximately 51%. Combining CNV-analysis with trio-based WES, filtering for variants in a virtual, and flexible gene panel based on patient-specific HPO-terms, represent a comprehensive, personalized, cost-and time-efficient strategy to establish a diagnosis within the genetically highly heterogeneous paediatric DCM cohort. The latter technique provides the ability to stepwise analysis of a subset of genomic data, thereby minimizing the number of variants of unknown significance and preventing incidental findings in a proportion of patients.

Published
2017

20. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Author

Hoorntje, Edgar T., primary, Posafalvi, Anna, additional, Syrris, Petros, additional, van der Velde, K. Joeri, additional, Bolling, Marieke C., additional, Protonotarios, Alexandros, additional, Boven, Ludolf G., additional, Amat-Codina, Nuria, additional, Groeneweg, Judith A., additional, Wilde, Arthur A., additional, Sobreira, Nara, additional, Calkins, Hugh, additional, Hauer, Richard N. W., additional, Jonkman, Marcel F., additional, McKenna, William J., additional, Elliott, Perry M., additional, Sinke, Richard J., additional, van den Berg, Maarten P., additional, Chelko, Stephen P., additional, James, Cynthia A., additional, van Tintelen, J. Peter, additional, Judge, Daniel P., additional, and Jongbloed, Jan D. H., additional

Published
2018
Full Text
View/download PDF

21. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Author

Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D.H., Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., and Jongbloed, Jan D.H.

Published
2018

22. No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

Author

Onderzoek Vrouw Hart & Vaatziekten, Circulatory Health, Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D.H., Onderzoek Vrouw Hart & Vaatziekten, Circulatory Health, Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, Van Der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N.W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., Van Den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., Van Tintelen, J. Peter, Judge, Daniel P., and Jongbloed, Jan D.H.

Published
2018

23. Novel methods for genetic transformation of natural Bacillus subtilis isolates used to study the regulation of the mycosubtilin and surfactin synthetases

Author

Duitman, Erwin H., Boven, Ludolf G., Wyczawski, Dobek, Venema, Gerard, Kuipers, Oscar P., and Hamoen, Leendert W.

Subjects
Bacillus subtilis -- Genetic aspects, Genetic transformation -- Analysis, Genetic regulation -- Research, Biological sciences
Abstract

Two novel methods that stimulate the natural and genetic transformation of natural isolates of Bacillus subtilis, which has low genetic competence levels, are described. The methods can be easily used to study the regulation of synthetases of mycosubtilin and surfactin, the two commonly used lipopeptide antibiotics.

Published
2007

25. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Author

Almomani, Rowida, Verhagen, Judith M A, Herkert, Johanna C, Brosens, Erwin, van Spaendonck-Zwarts, Karin Y, Asimaki, Angeliki, van der Zwaag, Paul A, Frohn-Mulder, Ingrid M E, Bertoli-Avella, Aida M, Boven, Ludolf G, van Slegtenhorst, Marjon A, van der Smagt, Jasper J, van IJcken, Wilfred F J, Timmer, Bert, van Stuijvenberg, Margriet, Verdijk, Rob M, Saffitz, Jeffrey E, du Plessis, Frederik A, Michels, Michelle, Hofstra, Robert M W, Sinke, Richard J, van Tintelen, J Peter, Wessels, Marja W, Jongbloed, Jan D H, van de Laar, Ingrid M B H, Almomani, Rowida, Verhagen, Judith M A, Herkert, Johanna C, Brosens, Erwin, van Spaendonck-Zwarts, Karin Y, Asimaki, Angeliki, van der Zwaag, Paul A, Frohn-Mulder, Ingrid M E, Bertoli-Avella, Aida M, Boven, Ludolf G, van Slegtenhorst, Marjon A, van der Smagt, Jasper J, van IJcken, Wilfred F J, Timmer, Bert, van Stuijvenberg, Margriet, Verdijk, Rob M, Saffitz, Jeffrey E, du Plessis, Frederik A, Michels, Michelle, Hofstra, Robert M W, Sinke, Richard J, van Tintelen, J Peter, Wessels, Marja W, Jongbloed, Jan D H, and van de Laar, Ingrid M B H

Published
2016

26. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Author

Genetica Klinische Genetica, Circulatory Health, Almomani, Rowida, Verhagen, Judith M A, Herkert, Johanna C, Brosens, Erwin, van Spaendonck-Zwarts, Karin Y, Asimaki, Angeliki, van der Zwaag, Paul A, Frohn-Mulder, Ingrid M E, Bertoli-Avella, Aida M, Boven, Ludolf G, van Slegtenhorst, Marjon A, van der Smagt, Jasper J, van IJcken, Wilfred F J, Timmer, Bert, van Stuijvenberg, Margriet, Verdijk, Rob M, Saffitz, Jeffrey E, du Plessis, Frederik A, Michels, Michelle, Hofstra, Robert M W, Sinke, Richard J, van Tintelen, J Peter, Wessels, Marja W, Jongbloed, Jan D H, van de Laar, Ingrid M B H, Genetica Klinische Genetica, Circulatory Health, Almomani, Rowida, Verhagen, Judith M A, Herkert, Johanna C, Brosens, Erwin, van Spaendonck-Zwarts, Karin Y, Asimaki, Angeliki, van der Zwaag, Paul A, Frohn-Mulder, Ingrid M E, Bertoli-Avella, Aida M, Boven, Ludolf G, van Slegtenhorst, Marjon A, van der Smagt, Jasper J, van IJcken, Wilfred F J, Timmer, Bert, van Stuijvenberg, Margriet, Verdijk, Rob M, Saffitz, Jeffrey E, du Plessis, Frederik A, Michels, Michelle, Hofstra, Robert M W, Sinke, Richard J, van Tintelen, J Peter, Wessels, Marja W, Jongbloed, Jan D H, and van de Laar, Ingrid M B H

Published
2016

27. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Author

Almomani, Rowida, primary, Verhagen, Judith M.A., additional, Herkert, Johanna C., additional, Brosens, Erwin, additional, van Spaendonck-Zwarts, Karin Y., additional, Asimaki, Angeliki, additional, van der Zwaag, Paul A., additional, Frohn-Mulder, Ingrid M.E., additional, Bertoli-Avella, Aida M., additional, Boven, Ludolf G., additional, van Slegtenhorst, Marjon A., additional, van der Smagt, Jasper J., additional, van IJcken, Wilfred F.J., additional, Timmer, Bert, additional, van Stuijvenberg, Margriet, additional, Verdijk, Rob M., additional, Saffitz, Jeffrey E., additional, du Plessis, Frederik A., additional, Michels, Michelle, additional, Hofstra, Robert M.W., additional, Sinke, Richard J., additional, van Tintelen, J. Peter, additional, Wessels, Marja W., additional, Jongbloed, Jan D.H., additional, and van de Laar, Ingrid M.B.H., additional

Published
2016
Full Text
View/download PDF

29. Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

Author

van Tintelen, J. Peter, primary, Tio, Rene A., additional, Kerstjens-Frederikse, Wilhelmina S., additional, van Berlo, Jop H., additional, Boven, Ludolf G., additional, Suurmeijer, Albert J.H., additional, White, Stefan J., additional, den Dunnen, Johan T., additional, te Meerman, Gerard J., additional, Vos, Yvonne J., additional, van der Hout, Annemarie H., additional, Osinga, Jan, additional, van den Berg, Maarten P., additional, van Veldhuisen, Dirk J., additional, Buys, Charles H.C.M., additional, Hofstra, Robert M.W., additional, and Pinto, Yigal M., additional

Published
2007
Full Text
View/download PDF

30. Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Author

van Tintelen, J.Peter, primary, Entius, Mark M., additional, Bhuiyan, Zahurul A., additional, Jongbloed, Roselie, additional, Wiesfeld, Ans C.P., additional, Wilde, Arthur A.M., additional, van der Smagt, Jasper, additional, Boven, Ludolf G., additional, Mannens, Marcel M.A.M., additional, van Langen, Irene M., additional, Hofstra, Robert M.W., additional, Otterspoor, Luuk C., additional, Doevendans, Pieter A.F.M., additional, Rodriguez, Luz-Maria, additional, van Gelder, Isabelle C., additional, and Hauer, Richard N.W., additional

Published
2006
Full Text
View/download PDF

31. Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Author

Brooks, Alice S., primary, Bertoli-Avella, Aida M., additional, Burzynski, Grzegorz M., additional, Breedveld, Guido J., additional, Osinga, Jan, additional, Boven, Ludolf G., additional, Hurst, Jane A., additional, Mancini, Grazia M.S., additional, Lequin, Maarten H., additional, de Coo, Rene F., additional, Matera, Ivana, additional, de Graaff, Esther, additional, Meijers, Carel, additional, Willems, Patrick J., additional, Tibboel, Dick, additional, Oostra, Ben A., additional, and Hofstra, Robert M.W., additional

Published
2005
Full Text
View/download PDF

32. A substantial proportion of microsatellite-unstable colon tumors carryTP53 mutations while not showing chromosomal instability

Author

Westra, Jantine L., primary, Boven, Ludolf G., additional, van der Vlies, Pieter, additional, Faber, Hendrika, additional, Sikkema, Birgit, additional, Schaapveld, Michael, additional, Dijkhuizen, Trijnie, additional, Hollema, Harry, additional, Buys, Charles H. C. M., additional, Plukker, John T. M., additional, Kok, Klaas, additional, and Hofstra, Robert M. W., additional

Published
2005
Full Text
View/download PDF

33. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Author

Almomani R, Herkert JC, Posafalvi A, Post JG, Boven LG, van der Zwaag PA, Willems PHGM, van Veen-Hof IH, Verhagen JMA, Wessels MW, Nikkels PGJ, Wintjes LT, van den Berg MP, Sinke RJ, Rodenburg RJ, Niezen-Koning KE, van Tintelen JP, and Jongbloed JDH

Subjects
Amino Acid Sequence, Cardiomyopathy, Dilated enzymology, Cardiomyopathy, Dilated metabolism, Conserved Sequence, DNA Mutational Analysis, Female, Homozygote, Humans, Infant, Infant, Newborn, Mitochondria metabolism, Myocardium metabolism, Oxidative Stress, Pedigree, Superoxide Dismutase chemistry, Superoxide Dismutase metabolism, Superoxides metabolism, Cardiomyopathy, Dilated genetics, Mutation, Missense, Myocardium pathology, Superoxide Dismutase genetics
Abstract

Background: Idiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause is crucial because this knowledge can affect management options, cardiac surveillance in relatives and reproductive decision-making. In this study, we sought to identify the underlying genetic defect in a patient born to consanguineous parents with rapidly progressive DCM that led to death in early infancy., Methods and Results: Exome sequencing revealed a potentially pathogenic, homozygous missense variant, c.542G>T, p.(Gly181Val), in SOD2 . This gene encodes superoxide dismutase 2 (SOD2) or manganese-superoxide dismutase, a mitochondrial matrix protein that scavenges oxygen radicals produced by oxidation-reduction and electron transport reactions occurring in mitochondria via conversion of superoxide anion (O 2 -· ) into H 2 O 2 . Measurement of hydroethidine oxidation showed a significant increase in O 2 -· levels in the patient's skin fibroblasts, as compared with controls, and this was paralleled by reduced catalytic activity of SOD2 in patient fibroblasts and muscle. Lentiviral complementation experiments demonstrated that mitochondrial SOD2 activity could be completely restored on transduction with wild type SOD2., Conclusion: Our results provide evidence that defective SOD2 may lead to toxic increases in the levels of damaging oxygen radicals in the neonatal heart, which can result in rapidly developing heart failure and death. We propose SOD2 as a novel nuclear-encoded mitochondrial protein involved in severe human neonatal cardiomyopathy, thus expanding the wide range of genetic factors involved in paediatric cardiomyopathies., Competing Interests: Competing interests: PHGMW is scientific advisor of Khondrion, Nijmegen, the Netherlands. This SME had no involvement in the data collection, analysis and interpretation, writing of the manuscript and in the decision to submit the manuscript for publication., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2020
Full Text
View/download PDF

34. A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.

Author

Westra JL, Boven LG, van der Vlies P, Faber H, Sikkema B, Schaapveld M, Dijkhuizen T, Hollema H, Buys CH, Plukker JT, Kok K, and Hofstra RM

Subjects
Chromosomes, Artificial, Bacterial, Humans, Colonic Neoplasms genetics, Genes, p53, Microsatellite Repeats genetics, Mutation
Abstract

Chromosomal instability in colon tumors implies the presence of numerical and structural chromosome aberrations and is further characterized by the absence of microsatellite instability and the occurrence of KRAS and/or TP53 mutations. In a previous screening of 194 colon tumors for both microsatellite instability and TP53 mutation, we found 25 microsatellite-unstable tumors, in 9 (36%) of which, presumed to be chromosomally stable, there were TP53 mutations. This prompted us to investigate whether a TP53 mutation in these microsatellite-unstable tumors would be an indicator of chromosomal instability, that is, whether this would be a category of tumors showing both microsatellite and chromosomal instability. For chromosomal instability assessment, we performed array-comparative genomic hybridization analysis of tumor and control DNA extracted from formalin-fixed, paraffin-embedded stage III colon tumor specimens. The array consisted of 435 subtelomere-specific BACs. We compared all but one (whose DNA was of bad quality) of the microsatellite-unstable TP53 mutation-containing tumors (8) with a similarly sized group of microsatellite-unstable tumors without TP53 mutation (11). Microsatellite-unstable tumors with a TP53 mutation showed on average 0.9 aberrations (range 0-3) when assessed with this array system. Those without a TP53 mutation showed on average 0.7 aberrations (range 0-2). Thus, microsatellite-unstable tumors showed few chromosomal abnormalities regardless of TP53 mutation status. Because, in our study, the microsatellite-stable tumors had on average 3.4chromosomal abnormalities (range 0-7), a clear difference exists between microsatellite-unstable and -stable tumors. Because a substantial proportion of microsatellite-unstable colon tumors carry a TP53 mutation while showing relativelyfewchromosomal aberrations, a TP53 mutation in these tumors cannot be considered to be an indicator of chromosomal instability., (Copyright 2005 Wiley-Liss, Inc.)

Published
2005
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results