نتائج البحث - "Thanh-Minh T. Nguyen"

المساهمون: Sub Bioinformatics, Theoretical Biology and Bioinformatics, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, van Dam, Teunis J P, Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yve, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, van Wijk, Erwin, Képès, Françoi, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantino, Ueffing, Mariu, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, van Beersum, Sylvia E C, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A

المصدر: PLoS ONE
PLoS One, 14
PLoS One. Public Library of Science
PloS one
PLOS ONE
PLOS ONE, 14(5):0216705. Public Library of Science
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
PLoS One, 14, 5

مصطلحات موضوعية: Proteomics, Sensory Receptors, Nematoda, Social Sciences, Ciliopathies, Biochemistry, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Transcriptome, 0302 clinical medicine, Animal Cells, Psychology, RETINAL PHOTORECEPTOR CELLS, Exome, Neurons, 0303 health sciences, 030302 biochemistry & molecular biology, Eukaryota, Genomics, PRIMARY CILIUM, thecilium, 3. Good health, Nucleic acids, Genetic interference, Osteichthyes, Medicine, Epigenetics, Cellular Structures and Organelles, Cellular Types, proteomic databases, Sensory Receptor Cells, Science, education, Ciliary genes, LEBER CONGENITAL AMAUROSIS, 03 medical and health sciences, Genetics, Cilia, Caenorhabditis elegans, IDENTIFICATION, MUTATIONS, Embryos, cilia, Organisms, Biology and Life Sciences, Bayes Theorem, Molecular Sequence Annotation, medicine.disease, Invertebrates, Fish, ciliary proteome, Animal Studies, Caenorhabditis, Gene expression, embryos, 030217 neurology & neurosurgery, Developmental Biology, Neuroscience, Photoreceptors, Candidate gene, Embryology, Oligonucleotides, Morpholino, Database and Informatics Methods, RNA interference, Bayesian classifier, TRANSITION ZONE, Zebrafish, Antisense Oligonucleotides, Multidisciplinary, Spectrometric Identification of Proteins, Proteomic Databases, Nucleotides, Cilium, Stable Isotope Labeling by Amino Acids in Cell Culture, photoreceptors, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Animal Models, Phenotype, INTRAFLAGELLAR TRANSPORT, DIFFERENTIATION, Experimental Organism Systems, Caenorhabditis Elegans, Vertebrates, Sensory Perception, Research Article, Signal Transduction, EXPRESSION, Stable isotope labeling by amino acids in cell culture, Computational biology, Biology, Research and Analysis Methods, SOLUTE-CARRIER-PROTEIN, Model Organisms, medicine, Animals, data integration, 030304 developmental biology, Afferent Neurons, Reproducibility of Results, Cell Biology, zebrafish, biology.organism_classification, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Biological Databases, Cellular Neuroscience, RNA, OSCP1, CiliaCarta

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2772a70100890267dc91fbed9c4e654e
http://europepmc.org/articles/PMC6522010

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4

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

المؤلفون: Richard T. Pon, Ryan E. Lamont, Uwe Wolfrum, Robert A. Hegele, Dan Doherty, Fiona Stewart, Martin McKibbin, Jay Shendure, Grischa Toedt, Colin E. Willoughby, Jillian S. Parboosingh, Clem Donahue, Kirsten A. Wunderlich, Lijia Huang, Marius Ueffing, Hannah M. Mitchison, Nasrin Sorusch, Teunis J. P. van Dam, Zakia Abdelhamed, Kym M. Boycott, Francois P. Bernier, Mohammed A. Aldahmesh, Subaashini Natarajan, Bernard N. Chodirker, Carole Ober, Julie Higgins, Matthew Adams, Darren C. Tomlinson, Hilary E. Racher, Thanh Minh T. Nguyen, Ian G. Phelps, Andreas Giessl, Katarzyna Szymanska, Ewan E. Morrison, Albert E. Chudley, Fowzan S. Alkuraya, Panagiotis I. Sergouniotis, Patrick Frosk, Jacquelyn Bond, Miriam Schmidts, Susanne Roosing, Nicola Horn, Gabrielle Wheway, Sandra M. Bell, Carmel Toomes, Toby J. Gibson, Martijn A. Huynen, Philip L. Beales, Gisela G. Slaats, Julie Kennedy, Clare V. Logan, Oliver E. Blacque, Paul M. K. Gordon, Rachel H. Giles, Heymut Omran, Aizeddin A. Mhanni, A. James Barkovich, David A. Parry, A. Micheil Innes, Dorus A. Mans, Jeroen van Reeuwijk, Kristin Kessler, Louis Wolf, Shamsa Anazi, Evan A. Boyle, Karsten Boldt, Ronald Roepman, Joseph G. Gleeson, Andrew R. Webster, Selwa A. Al Hazzaa, Chris F. Inglehearn, Warren Herridge, Christian Thiel, Chandree L. Beaulieu, Colin A. Johnson, Stef J.F. Letteboer

المصدر: Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group

مصطلحات موضوعية: PRPF31, Pregnancy Proteins, Inbred C57BL, Ciliopathies, Mice, Immunologic, Cerebellum, Databases, Genetic, Eye Abnormalities, Non-U.S. Gov't, Zebrafish, Exome sequencing, Mice, Knockout, Genetics, Research Support, Non-U.S. Gov't, Cilium, High-Throughput Nucleotide Sequencing, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Kidney Diseases, Cystic, Phenotype, Kidney Diseases, RNA Interference, Abnormalities, Multiple, Functional genomics, Ciliary Motility Disorders, Genetic Markers, Ellis-Van Creveld Syndrome, Knockout, Jeune syndrome, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Transfection, Retina, Article, whole-genome siRNA screen, Joubert syndrome, N.I.H, Databases, Cystic, reverse genetics, Research Support, N.I.H., Extramural, Genetic, Cerebellar Diseases, Ciliogenesis, Suppressor Factors, Journal Article, Suppressor Factors, Immunologic, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Photoreceptor Cells, Cilia, Genetic Testing, Caenorhabditis elegans, Extramural, Membrane Proteins, Proteins, Reproducibility of Results, Cell Biology, medicine.disease, Mice, Inbred C57BL, Cytoskeletal Proteins, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], HEK293 Cells, Mutation, ciliopathies, Genome-Wide Association Study

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f0b712fcab169cef607b95c1a1e715
https://doi.org/10.1038/ncb3201

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5

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

المؤلفون: Helger G. Yntema, Erwin van Wijk, Ellen A.W. Blokland, Frans P.M. Cremers, Lisette Hetterschijt, Erik de Vrieze, Sarah Hull, Ronald Roepman, Gavin Arno, Thanh-Minh T. Nguyen, Lonneke Haer-Wigman, Paul A. van der Zwaag, Andrew R. Webster, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, L. Ingeborgh van den Born

المصدر: Journal of Medical Genetics, 54, 624-632
Journal of Medical Genetics, 54, 9, pp. 624-632
JOURNAL OF MEDICAL GENETICS, 54(9), 624-632. BMJ PUBLISHING GROUP

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http://hdl.handle.net/2066/177221

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6

Missense mutations in the WD40 domain of

المؤلفون: Thanh-Minh T, Nguyen, Sarah, Hull, Ronald, Roepman, L Ingeborgh, van den Born, Machteld M, Oud, Erik, de Vrieze, Lisette, Hetterschijt, Stef J F, Letteboer, Sylvia E C, van Beersum, Ellen A, Blokland, Helger G, Yntema, Frans P M, Cremers, Paul A, van der Zwaag, Gavin, Arno, Erwin, van Wijk, Andrew R, Webster, Lonneke, Haer-Wigman

المصدر: Journal of Medical Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::67322ecf116a482310bff64864b976cf
https://pubmed.ncbi.nlm.nih.gov/28442542

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7

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

المصدر: Human Molecular Genetics, 24, 6, pp. 1584-601
Human molecular genetics, vol 24, iss 6
Human Molecular Genetics, 24, 1584-601

مصطلحات موضوعية: genetic structures, Apoptosis, Neurodegenerative, Eye, Medical and Health Sciences, chemistry.chemical_compound, Mice, Retinal Rod Photoreceptor Cells, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Pediatric, Genetics & Heredity, biology, Cilium, General Medicine, Retinitis pigmentosa GTPase regulator, Articles, Biological Sciences, Transport protein, Cell biology, Mutant Strains, DNA-Binding Proteins, Protein Transport, medicine.anatomical_structure, Rhodopsin, Retinal Cone Photoreceptor Cells, medicine.medical_specialty, Rare Diseases, Internal medicine, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Eye Disease and Disorders of Vision, Molecular Biology, Photoreceptor Connecting Cilium, Retina, Neurosciences, Proteins, Retinal, medicine.disease, eye diseases, Mice, Mutant Strains, Ciliopathy, Cytoskeletal Proteins, Orphan Drug, Endocrinology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, biology.protein, Cattle, sense organs, Gene Deletion

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9648690ddc5f24128e24ac4e0cf2c1
https://pubmed.ncbi.nlm.nih.gov/25398945

8

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

المؤلفون: Detlef Bockenhauer, Valeska Frank, Jan Halbritter, Albrecht Kramer-Zucker, Edgar A. Otto, Gerd Walz, Marius Ueffing, Emilie Filhol, Daniel Epting, Friedhelm Hildebrandt, Nicola Horn, Søren Rittig, Troels Ring, Martin Helmstädter, Christoph Schell, Mariet W. Elting, Mogens Vyberg, Tobias B. Huber, Martin Pohl, Florian Grahammer, Jeroen van Reeuwijk, Sophie Saunier, Karsten Boldt, Christopher Boehlke, Sylvia Hoff, Neveen A. Soliman Elshakhs, Ronald Roepman, Thomas J. Neuhaus, E. Wolfgang Kuehn, Miriam Mergen, Soeren S. Lienkamp, Sarah J. Koon, Neil J. Sebire, Hanno J. Bolz, Tobias Eisenberger, Lars Pape, Thanh-Minh T. Nguyen, Takayuki Yasunaga, Joanna A.E. van Wijk, Peter C. Harris, Carsten Bergmann

المساهمون: Human genetics, Pediatric surgery, ICaR - Circulation and metabolism

المصدر: Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-6 . https://doi.org/10.1038/ng.2681
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45, 951-956
Nature genetics
Nature Genetics, 45, 8, pp. 951-956
Nature Genetics; Vol 45
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstadter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45(8), 951-956. Nature Publishing Group