Search

Your search keyword '"Enrico, D.H."' showing total 12 results
Start Over Author "Enrico, D.H."
12 results on '"Enrico, D.H."'

1. P2.18-04 Real-world Study on Efficacy of First-Line Nivolumab + Ipilimumab in Unresectable Malignant Pleural Mesothelioma (ImmunoMeso)

Author

Aguirre, E.D., primary, Enrico, D.H., additional, Tissera, N.S., additional, Tsou, F., additional, Pupareli, C., additional, Peralta, D., additional, Waisberg, F., additional, Rodríguez, A., additional, Kaen, D., additional, Recondo, G., additional, Ramos, M., additional, Bluthgen, V., additional, Castagneris, N., additional, Perfetti, A., additional, Levit, P., additional, Chacón, M., additional, Corrales, L., additional, Arrieta, O., additional, Cardona, A.F., additional, and Martín, C., additional

Published
2023
Full Text
View/download PDF

2. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Author

Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horvath, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege M. Schnelle, Siren Berland, Evelien Zonneveld-Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julian A. Martinez-Agosto, Outi Kuismin, Mitja I. Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana S. Johnson, Katja Venborg Pedersen, Lone W. Laulund, Sally A. Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier, Graduate School, Clinical Genetics, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Center for Population, Health and Society, Centre of Excellence in Complex Disease Genetics, and Aarno Palotie / Principal Investigator

Subjects
Male, CCCTC-Binding Factor, Developmental Disabilities, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Transcriptome, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Drosophila Proteins, Missense mutation, TOOL, Genetics(clinical), Child, Genetics (clinical), Genetics & Heredity, Genetics, 0303 health sciences, biology, GENE ONTOLOGY, neurodevelopmental disorders, 1184 Genetics, developmental biology, physiology, HUMANS, Chromatin, 3. Good health, DROSOPHILA, Drosophila melanogaster, intellectual disability, LIBRARY, Female, INACTIVATION, Life Sciences & Biomedicine, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, DATABASE, Mutation, Missense, Article, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Gene, 030304 developmental biology, Science & Technology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Gene Expression Profiling, biology.organism_classification, medicine.disease, CTCF, Gene Expression Regulation, DE-NOVO MUTATIONS, Mutation, 030217 neurology & neurosurgery, Transcription Factors, chromatin organization
Abstract

PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. RESULTS: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits. CONCLUSION: We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila. ispartof: GENETICS IN MEDICINE vol:21 issue:12 pages:2723-2733 ispartof: location:United States status: published

Published
2019
Full Text
View/download PDF

3. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Author

Holly Dubbs, Diana Johnson, Anna Fliedner, Jonas Straub, Anne Gregor, Enrico D.H. Konrad, Meredith Phillips, Alexander P.A. Stegmann, Christiane Zweier, Maaike Vreeburg, Avni Santani, Lacey Smith, Bryan L. Krock, Levinus A. Bok, Constance T. R. M. Stumpel, Annapurna Poduri, Ganka Douglas, Addie I. Nesbitt, Heinrich Sticht, Heather P. Crawford, Johanna Grüner, Xilma R. Ortiz-Gonzalez, Rebekah Jobling, Mohamad A. Mikati, Zöe Powis, Joost Nicolai, Megan T. Cho, Annick Toutain, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, and MUMC+: DA KG Polikliniek (9)

Subjects
0301 basic medicine, Male, INTELLECTUAL DISABILITY, Adolescent, Gene Dosage, Mutation, Missense, AUTISM SPECTRUM DISORDERS, GTPase, Biology, UBIQUITIN LIGASE COMPLEX, RHO-GTPASES, Article, 03 medical and health sciences, Epilepsy, GTP-Binding Proteins, SENSITIVE PARALYTIC MUTANTS, Genetics, medicine, Missense mutation, Animals, Drosophila Proteins, Humans, SPINE MORPHOGENESIS, BREAST-CANCER, TUMOR-SUPPRESSOR, Amino Acid Sequence, RhoBTB, Child, Genetics (clinical), Behavior, Animal, Tumor Suppressor Proteins, HEK 293 cells, Dendrites, medicine.disease, Phenotype, Cell biology, 030104 developmental biology, Drosophila melanogaster, HEK293 Cells, DE-NOVO MUTATIONS, Ubiquitin ligase complex, Child, Preschool, Synaptic plasticity, Synapses, Female, MENTAL-RETARDATION
Abstract

Although the role of typical Rho GTPases and other Rho-linked proteins in synaptic plasticity and cognitive function and dysfunction is widely acknowledged, the role of atypical Rho GTPases (such as RHOBTB2) in neurodevelopment has barely been characterized. We have now identified de novo missense variants clustering in the BTB-domain-encoding region of RHOBTB2 in ten individuals with a similar phenotype, including early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and movement disorders. Three of the variants were recurrent. Upon transfection of HEK293 cells, we found that mutant RHOBTB2 was more abundant than the wild-type, most likely because of impaired degradation in the proteasome. Similarly, elevated amounts of the Drosophila ortholog RhoBTB in vivo were associated with seizure susceptibility and severe locomotor defects. Knockdown of RhoBTB in the Drosophila dendritic arborization neurons resulted in a decreased number of dendrites, thus suggesting a role of RhoBTB in dendritic development. We have established missense variants in the BTB-domain-encoding region of RHOBTB2 as causative for a developmental and epileptic encephalopathy and have elucidated the role of atypical Rho GTPase RhoBTB in Drosophila neurological function and possibly dendrite development.

Published
2018

4. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Author

Konrad, Enrico D.H., primary, Nardini, Niels, additional, Caliebe, Almuth, additional, Nagel, Inga, additional, Young, Dana, additional, Horvath, Gabriella, additional, Santoro, Stephanie L., additional, Shuss, Christine, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, Kempers, Marlies, additional, Pfundt, Rolph, additional, Legius, Eric, additional, Bouman, Arjan, additional, Stuurman, Kyra E., additional, Õunap, Katrin, additional, Pajusalu, Sander, additional, Wojcik, Monica H., additional, Vasileiou, Georgia, additional, Le Guyader, Gwenaël, additional, Schnelle, Hege M., additional, Berland, Siren, additional, Zonneveld-Huijssoon, Evelien, additional, Kersten, Simone, additional, Gupta, Aditi, additional, Blackburn, Patrick R., additional, Ellingson, Marissa S., additional, Ferber, Matthew J., additional, Dhamija, Radhika, additional, Klee, Eric W., additional, McEntagart, Meriel, additional, Lichtenbelt, Klaske D., additional, Kenney, Amy, additional, Vergano, Samantha A., additional, Abou Jamra, Rami, additional, Platzer, Konrad, additional, Ella Pierpont, Mary, additional, Khattar, Divya, additional, Hopkin, Robert J., additional, Martin, Richard J., additional, Jongmans, Marjolijn C.J., additional, Chang, Vivian Y., additional, Martinez-Agosto, Julian A., additional, Kuismin, Outi, additional, Kurki, Mitja I., additional, Pietiläinen, Olli, additional, Palotie, Aarno, additional, Maarup, Timothy J., additional, Johnson, Diana S., additional, Venborg Pedersen, Katja, additional, Laulund, Lone W., additional, Lynch, Sally A., additional, Blyth, Moira, additional, Prescott, Katrina, additional, Canham, Natalie, additional, Ibitoye, Rita, additional, Brilstra, Eva H., additional, Shinawi, Marwan, additional, Fassi, Emily, additional, Sticht, Heinrich, additional, Gregor, Anne, additional, Van Esch, Hilde, additional, and Zweier, Christiane, additional

Published
2019
Full Text
View/download PDF

5. A combination of resistance mechanisms is frequent in non-small cell lung cancer (NSCLC) that progressed to EGFR tyrosine kinase inhibitors (TKIs)

Author

Enrico, D.H., primary, Lacroix, L., additional, Rouleau, E., additional, Scoazec, J-Y, additional, Loriot, Y., additional, Tselikas, L., additional, Jovelet, C., additional, Planchard, D., additional, Gazzah, A., additional, Mezquita, L., additional, Ngo, M., additional, Michiels, S., additional, Maillard, A., additional, Massard, C., additional, Facchinetti, F., additional, Soria, J-C, additional, André, F., additional, Vassal, G., additional, Friboulet, L., additional, and Besse, B., additional

Published
2019
Full Text
View/download PDF

6. Multiple synchronous mechanisms may contribute to osimertinib resistance in non-small cell lung cancer (NSCLC) patients: Insights of the MATCH-R study

Author

Enrico, D.H., primary, Lacroix, L., additional, Rouleau, E., additional, Scoazec, J.-Y., additional, Loriot, Y., additional, Tselikas, L., additional, Jovelet, C., additional, Planchard, D., additional, Gazzah, A., additional, Mezquita, L., additional, Ngo, M., additional, Michiels, S., additional, Massard, C., additional, Facchinetti, F., additional, Chen, J., additional, Soria, J.-C., additional, André, F., additional, Vassal, G., additional, Friboulet, L., additional, and Besse, B., additional

Published
2019
Full Text
View/download PDF

8. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Author

Straub, Jonas, primary, Konrad, Enrico D.H., additional, Grüner, Johanna, additional, Toutain, Annick, additional, Bok, Levinus A., additional, Cho, Megan T., additional, Crawford, Heather P., additional, Dubbs, Holly, additional, Douglas, Ganka, additional, Jobling, Rebekah, additional, Johnson, Diana, additional, Krock, Bryan, additional, Mikati, Mohamad A., additional, Nesbitt, Addie, additional, Nicolai, Joost, additional, Phillips, Meredith, additional, Poduri, Annapurna, additional, Ortiz-Gonzalez, Xilma R., additional, Powis, Zöe, additional, Santani, Avni, additional, Smith, Lacey, additional, Stegmann, Alexander P.A., additional, Stumpel, Constance, additional, Vreeburg, Maaike, additional, Fliedner, Anna, additional, Gregor, Anne, additional, Sticht, Heinrich, additional, and Zweier, Christiane, additional

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results