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12 results on '"Schepens, Marga"'

1. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R.F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C.O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E.H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L.I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M.C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., Kleefstra, Tjitske, Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R.F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C.O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E.H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L.I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M.C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske

Published
2021

3. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Author

Vissers, Lisenka ELM, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, de Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, van der Burgt, Ineke, Yntema, Helger G., den Hertog, Jeroen, Sub Crystal and Structural Chemistry, Crystal and Structural Chemistry, Hubrecht Institute for Developmental Biology and Stem Cell Research, MUMC+: DA Klinische Genetica (5), Groei & Ontwikkeling, RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Sub Crystal and Structural Chemistry, and Crystal and Structural Chemistry

Subjects
Male, Models, Molecular, Protein Conformation, DNA Mutational Analysis, Gene Expression, medicine.disease_cause, Models, Exome, Genetics(clinical), Non-U.S. Gov't, skin and connective tissue diseases, Zebrafish, Genetics (clinical), Genetics, Mutation, Research Support, Non-U.S. Gov't, Noonan Syndrome, High-Throughput Nucleotide Sequencing, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Medical genetics, Female, musculoskeletal diseases, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, animal structures, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Biology, Research Support, Article, Germline mutation, Molecular genetics, medicine, Journal Article, Animals, Humans, alpha-Macroglobulins, cardiovascular diseases, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Germ-Line Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Cytogenetics, Facies, Molecular, Heterozygote advantage, medicine.disease, Amino Acid Substitution, Noonan syndrome
Abstract

Contains fulltext : 152975.pdf (Publisher’s version ) (Open Access) Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known to cause NS are dominant, activating mutations in signal transducers of the RAS/mitogen-activated protein kinase (MAPK) pathway. In 25% of cases, however, the genetic cause of NS remains elusive, suggesting that factors other than those involved in the canonical RAS/MAPK pathway may also have a role. Here, we used family-based whole exome sequencing of a case-parent trio and identified a de novo mutation, p.(Arg802His), in A2ML1, which encodes the secreted protease inhibitor alpha-2-macroglobulin (A2M)-like-1. Subsequent resequencing of A2ML1 in 155 cases with a clinical diagnosis of NS led to the identification of additional mutations in two families, p.(Arg802Leu) and p.(Arg592Leu). Functional characterization of these human A2ML1 mutations in zebrafish showed NS-like developmental defects, including a broad head, blunted face and cardiac malformations. Using the crystal structure of A2M, which is highly homologous to A2ML1, we identified the intramolecular interaction partner of p.Arg802. Mutation of this residue, p.Glu906, induced similar developmental defects in zebrafish, strengthening our conclusion that mutations in A2ML1 cause a disorder clinically related to NS. This is the first report of the involvement of an extracellular factor in a disorder clinically related to RASopathies, providing potential new leads for better understanding of the molecular basis of this family of developmental diseases.

Published
2015
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4. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Author

Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, De Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, Van Der Burgt, Ineke, Yntema, Helger G., Den Hertog, Jeroen, Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, De Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, Van Der Burgt, Ineke, Yntema, Helger G., and Den Hertog, Jeroen

Published
2015

5. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Author

Sub Crystal and Structural Chemistry, Crystal and Structural Chemistry, Vissers, Lisenka ELM, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, de Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, van der Burgt, Ineke, Yntema, Helger G., den Hertog, Jeroen, Sub Crystal and Structural Chemistry, Crystal and Structural Chemistry, Vissers, Lisenka ELM, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, de Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, van der Burgt, Ineke, Yntema, Helger G., and den Hertog, Jeroen

Published
2015

6. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Author

Hubrecht Institute with UMC, Cancer, Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, De Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, Van Der Burgt, Ineke, Yntema, Helger G., Den Hertog, Jeroen, Hubrecht Institute with UMC, Cancer, Vissers, Lisenka E L M, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M., Frints, Suzanna G M, De Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C., Schepens, Marga, Brunner, Han G., Veltman, Joris A., Scheffer, Hans, Gros, Piet, Costa, José L., Tartaglia, Marco, Van Der Burgt, Ineke, Yntema, Helger G., and Den Hertog, Jeroen

Published
2015

7. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Author

Vissers, Lisenka ELM, primary, Bonetti, Monica, additional, Paardekooper Overman, Jeroen, additional, Nillesen, Willy M, additional, Frints, Suzanna G M, additional, de Ligt, Joep, additional, Zampino, Giuseppe, additional, Justino, Ana, additional, Machado, José C, additional, Schepens, Marga, additional, Brunner, Han G, additional, Veltman, Joris A, additional, Scheffer, Hans, additional, Gros, Piet, additional, Costa, José L, additional, Tartaglia, Marco, additional, van der Burgt, Ineke, additional, Yntema, Helger G, additional, and den Hertog, Jeroen, additional

Published
2014
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8. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Author

Croonen, Ellen A, primary, Nillesen, Willy M, additional, Stuurman, Kyra E, additional, Oudesluijs, Gretel, additional, van de Laar, Ingrid M B M, additional, Martens, Liesbeth, additional, Ockeloen, Charlotte, additional, Mathijssen, Inge B, additional, Schepens, Marga, additional, Ruiterkamp-Versteeg, Martina, additional, Scheffer, Hans, additional, Faas, Brigitte H W, additional, van der Burgt, Ineke, additional, and Yntema, Helger G, additional

Published
2013
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9. Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes

Author

Hol, Frans A., primary, Schepens, Marga T., additional, van Beersum, Sylvia E.C., additional, Redolfi, Elena, additional, Affer, Maurizio, additional, Vezzoni, Paolo, additional, Hamel, Ben C.J., additional, Karnes, Pamela S., additional, Mariman, Edwin C.M., additional, and Zucchi, Ileana, additional

Published
2000
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