نتائج البحث - "Thong Teck Tan"

المساهمون: ACS - Heart failure & arrhythmias, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Reversade, Bruno, Sahni, Geetika, Chang, Shu-Yung, Meng, Jeremy Teo Choon, Tan, Jerome Zu Yao, Fatien, Jean Jacques Clement, Bonnard, Carine, Utami, Kagistia Hana, Chan, Puck Wee, Tan, Thong Teck, Altunoglu, Umut, Pouladi, Mahmoud, Toh, Yi-Chin, School of Medicine

المصدر: Advanced Science, 8(5):2001100. Wiley-VCH Verlag
Advanced Science
Advanced Science, Vol 8, Iss 13, Pp n/a-n/a (2021)
Advanced Science, Vol 8, Iss 5, Pp n/a-n/a (2021)

مصطلحات موضوعية: Drug, General Chemical Engineering, media_common.quotation_subject, Science, Neuroepithelial Tissue, General Physics and Astronomy, Medicine (miscellaneous), morphogenesis, Ectoderm, 02 engineering and technology, Cell fate determination, Biology, 010402 general chemistry, Chemistry, Nanoscience and nanotechnology, Materials science, 01 natural sciences, Biochemistry, Genetics and Molecular Biology (miscellaneous), Corrections, medicine, General Materials Science, human pluripotent stem cells, Human specific, lcsh:Science, Gene, media_common, neurodevelopmental defects, Full Paper, Neural tube, General Engineering, Correction, Apical constriction, Full Papers, neuroepithelium, 021001 nanoscience & nanotechnology, Embryonic stem cell, micropatterning, 0104 chemical sciences, Cell biology, Neuroepithelial cell, medicine.anatomical_structure, Neurulation, Human pluripotent stem cells, Micropatterning, Morphogenesis, Neurodevelopmental defects, Neuroepithelium, lcsh:Q, 0210 nano-technology, Neuroscience

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9

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

المؤلفون: Ali Al Asmari, Emmanuelle Szenker-Ravi, Carine Bonnard, Bruno Reversade, Laura Schultz-Rogers, I. Kraegeloh-Mann, Maha Abdulrahim, Hesham Aldhalaan, Byrappa Venkatesh, Célia Bosso-Lefèvre, Aida Telegrafi, Hiyam M. Marzouqa, Gunaseelan Narayanan, Sha Tang, Sonal Mahida, Melanie A. Simpson, Fowzan S. Alkuraya, Michelle Eio, Eissa Faqeih, Renske Oegema, Sarah Weckhuysen, George Grady, Joseph J. Barycki, Mohammed Al-Owain, Lamyaa A. Jad, David A. Koolen, Marjon van Slegtenhorst, Tyler Mark Pierson, Marisa V. Andrews, Rebecca Schüle, Reinhard Keimer, Amber Begtrup, Sateesh Maddirevula, Michael Muriello, Sakkubai Naidu, Damien Haye, Adel A H Mahmoud, Brian Ciruna, Abdullah Tamim, Thong Teck Tan, Rolph Pfundt, Peter Bauer, Jiin Ying Lim, Ali Awaji, Marco Tartaglia, Meral Gunay-Aygun, Eric W. Klee, Marcia C. Willing, Monica Yau, Angelika Riess, Diego Martinelli, Sabina Barresi, Sumanty Tohari, Werner Deigendesch, Dirk Lefeber, Saumya Shekhar Jamuar, Ludger Schöls, Ralitza H. Gavrilova, Alvin Yu Jin Ng, Hannah Stamberger, Suleyman Gulsuner, Adam Claridge-Chang, Élise Lebigot, Moeenaldeen Al-Sayed, Ee Shien Tan, Kagistia Hana Utami, Sarah B. Pierce, Helene Verhelst, Hankun Li, James C. Stewart, Ingo Helbig, Tal Gilboa, Mahmoud A. Pouladi, Hagar Mor-Shaked, Boris Keren, Ajay S. Mathuru, Holger Hengel, Michèl A.A.P. Willemsen, Nader Handal, Tahsin Stefan Barakat, Sulwan M. Algain, Terrence Thomas, Lance H. Rodan, Mais Hashem, Wendy G. Mitchell

المساهمون: Center for Reproductive Medicine, ARD - Amsterdam Reproduction and Development, ACS - Diabetes & metabolism, Clinical Genetics, Reversade, Bruno, Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T.-T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., van Slegtenhorst, M., Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y.J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, M.A., Jamuar, S.S., Schöls, L, School of Medicine

المصدر: Nature communications, 11(1):595. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS

مصطلحات موضوعية: 0301 basic medicine, Male, Glycobiology, General Physics and Astronomy, VARIANTS, Encephalopathy, Neurodegenerative, Germline, 0302 clinical medicine, UDP-GLUCOSE DEHYDROGENASE, Loss of Function Mutation, Medicine and Health Sciences, EMBRYOGENESIS, 2.1 Biological and endogenous factors, UGDH protein, human, Aetiology, Child, lcsh:Science, Zebrafish, UTILITY, Genetics, pathology [Organoids], Multidisciplinary, Uridine diphosphate glucose dehydrogenase, Uridine diphosphate, DP-glucuronic acid, Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, 3. Good health, Pedigree, DEFICIENCY, genetics [Loss of Function Mutation], Organoids, genetics [Uridine Diphosphate Glucose Dehydrogenase], Child, Preschool, Neurological, Medicine, Female, ddc:500, medicine.symptom, Oxidoreductases, Engineering sciences. Technology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], ENZYME, Adolescent, CONGENITAL DISORDER, Science, Intellectual and Developmental Disabilities (IDD), genetics [Epilepsy], chemistry [Oxidoreductases], Genetics and Molecular Biology, Genes, Recessive, Biology, Uridine Diphosphate Glucose Dehydrogenase, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Protein Domains, medicine, Animals, Humans, Recessive, Clinical genetics, Allele, Preschool, Gene, Loss function, Alleles, HEPARAN-SULFATE, Phenocopy, genetics [Oxidoreductases], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, GLYCOSYLATION, Neurosciences, Infant, General Chemistry, biology.organism_classification, medicine.disease, Brain Disorders, carbohydrates (lipids), Kinetics, 030104 developmental biology, Genes, General Biochemistry, Neuronal development, lcsh:Q, Human medicine, 030217 neurology & neurosurgery, Congenital disorder

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10

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

المؤلفون: Bruno Reversade, Puck Wee Chan, Naveenan Navaratnam, Hülya Kayserili, Alvin Yu Jin Ng, Thong Teck Tan, Oz Pomp, Carine Bonnard, Rishita Changede, Byrappa Venkatesh, David Carling, Sumanty Tohari, Kakaly Ghosh, Umut Altunoglu

المساهمون: ACS - Heart failure & arrhythmias

المصدر: Journal of experimental medicine, 217(12):e20191561. Rockefeller University Press
The Journal of Experimental Medicine

مصطلحات موضوعية: 0301 basic medicine, Male, Transcription, Genetic, Turkey, Stem Cells & Regeneration, medicine.disease_cause, Consanguinity, 0302 clinical medicine, Neural Stem Cells, Loss of Function Mutation, Immunology and Allergy, Cell Aggregation, Mutation, Actomyosin, Neural stem cell, Cell aggregation, Cell biology, Pedigree, Organoids, medicine.anatomical_structure, Hippo signaling, Female, Signal transduction, Signal Transduction, Neural Tube, Immunology, Down-Regulation, Genes, Recessive, Biology, Protein Serine-Threonine Kinases, 03 medical and health sciences, Fetus, Protein Domains, medicine, Humans, Hippo Signaling Pathway, Amino Acid Sequence, Human disease genetics, Adaptor Proteins, Signal Transducing, Anencephaly, Base Sequence, Embryogenesis, Neural tube, Brief Definitive Report, Apical constriction, YAP-Signaling Proteins, Actins, 030104 developmental biology, 030217 neurology & neurosurgery, Neuroscience, Transcription Factors

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