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1
المؤلفون: Anette Szczepny, Alvaro Gonzalez-Rajal, Andrew Burgess, W. Samantha N. Jayasekara, Kazu Kikuchi, Vijesh Vaghjiani, Catherine R Cochrane, Geoffrey W. McCaughan, Daniel J. Gough, D. Neil Watkins, Jason E. Cain
المصدر: J Clin Invest
مصطلحات موضوعية: 0301 basic medicine, Lung Neoplasms, Transcription, Genetic, Mice, Transgenic, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), Autophagy, Animals, Humans, Hedgehog Proteins, KIF3A, Hedgehog, Cilium, Neoplasms, Experimental, General Medicine, Small Cell Lung Carcinoma, Transmembrane protein, Hedgehog signaling pathway, Cell biology, Retinoblastoma Binding Proteins, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Tumor Suppressor Protein p53, Smoothened, Signal Transduction, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f357039e03dfd786bcd7a84a0f77a487Test
https://doi.org/10.1172/jci132513Test -
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المؤلفون: Julia H. Wildschutte, Marta G. Castelhano, Max F. Rothschild, Maria Kaukonen, Georgios Kellaris, Joshua A. Stern, Stéphane Bézieau, Laurence Legeai-Mallet, Shrinivas P. Mane, Dominique Debray, Hannes Lohi, Ottmar Distl, Laurence M. Occelli, Kinga M. Bujakowska, Marjo K. Hytönen, Oliver P. Forman, Elizabeth A. Wilcox, Richard Malik, Tosso Leeb, Ronald H.L. Li, Elizabeth L. Cadena, William F. Swanson, Teri L. Lear, Yoshihiko Yu, Robert J. Harvey, Dominique Caldari, Erica E. Davis, Bianca Haase, Eric A. Pierce, Reuben M. Buckley, Stephen P. Daiger, L. Martin, D. Aberdein, Clare Rusbridge, Simon M. Petersen-Jones, Edward I. Ginns, Daniel C. Koboldt, Benjamin Cogné, Lokuliyanage Dona Samudita Senaratne, Michael B. Gorin, Niels C Pedersen, Margret L. Casal, Xenia Latypova, Adam R. Boyko, Isabel Hernandez, Tomoki Kosho, Sara J. Bowne, Nicholas H. Dodman, Tomas F. Bergström, Nicholas Katsanis, Rebecca R. Bellone, Guylène Le Meur, Bertrand Isidor, Daisuke Hasegawa, Christopher B. Kaelin, Mathilde Nizon, Karen A. Terio, Paulo C. Alves, Leslie A. Lyons, Christopher R Helps, Eirik Frengen, Emilie Leclerc, William J. Murphy, Beth Shapiro, Mark A. Magnuson, Lorraine Fievet, Maria Longeri, Rory J. Todhunter, Jeffrey A. Brockman, Lori S. Sullivan, Dorian J. Garrick, Jens Häggström, Jonathan E. Fogle, N. Matthew Ellinwood, Wesley C. Warren, John S. Munday, Gregory S. Barsh
المساهمون: Université Paris Cité (UPC), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.893-904. ⟨10.1016/j.ajhg.2020.04.005⟩
Am J Hum Genetمصطلحات موضوعية: Male, Heterozygote, Rhodopsin, [SDV]Life Sciences [q-bio], Kinesins, Biology, Retina, 03 medical and health sciences, Young Adult, KIFAP3, Intraflagellar transport, Report, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, KIF3A, Photoreceptor Cells, Amino Acid Sequence, Cilia, Genetics (clinical), Exome sequencing, Zebrafish, 030304 developmental biology, Genes, Dominant, 0303 health sciences, Cilium, 030305 genetics & heredity, Middle Aged, medicine.disease, Ciliopathies, Pedigree, Ciliopathy, Phenotype, Child, Preschool, Larva, Mutation, Cats, Kinesin, Female, sense organs, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48a8e4787ee74d7e392a0a9500b3f4dTest
https://hal.archives-ouvertes.fr/hal-03490699Test -
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المؤلفون: Chengri Jin, Shan Jin, Shujin Li
المصدر: Medical hypotheses. 126
مصطلحات موضوعية: 0301 basic medicine, Palate, Hard, Kinesins, Ciliary necklace, Zinc Finger Protein GLI1, 03 medical and health sciences, Mice, 0302 clinical medicine, GLI1, Basal body, Animals, Humans, KIF3A, Hedgehog Proteins, Cilia, Sonic hedgehog, Homeodomain Proteins, Mice, Inbred ICR, biology, Palate, Cilium, Gene Expression Regulation, Developmental, General Medicine, Hedgehog signaling pathway, Ciliopathies, Cell biology, Patched-1 Receptor, Disease Models, Animal, 030104 developmental biology, Mutation, biology.protein, Kinesin, 030217 neurology & neurosurgery, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36ad6c468cb8d03d0db14b5deb7ed35aTest
https://pubmed.ncbi.nlm.nih.gov/31010494Test -
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المؤلفون: Holger Lehmann, Anna Guinot, Ian J. Frew, Peter J. Wild
المصدر: The Journal of Pathology. 239:365-373
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Kidney, Mutation, endocrine system diseases, Cilium, Mutant, Biology, urologic and male genital diseases, Malignancy, medicine.disease, medicine.disease_cause, female genital diseases and pregnancy complications, 3. Good health, Pathology and Forensic Medicine, 03 medical and health sciences, Clear cell renal cell carcinoma, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Knockout mouse, medicine, KIF3A
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::df3490f2cc36db3ab6afc092acb28da7Test
https://doi.org/10.1002/path.4736Test -
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المؤلفون: David L. Brautigan, Zheng Fu, Eric J. Wang, Casey D. Gailey
المصدر: Cells, Vol 9, Iss 3, p 694 (2020)
Cells
Volume 9
Issue 3مصطلحات موضوعية: 0301 basic medicine, kinase, Protein Serine-Threonine Kinases, Biology, Transfection, Ciliopathies, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Ciliogenesis, medicine, Animals, Humans, KIF3A, Kinase activity, lcsh:QH301-705.5, phosphorylation, Cilium, Myoclonic Epilepsy, Juvenile, cilia, General Medicine, medicine.disease, Cell biology, Ciliopathy, HEK293 Cells, ciliopathy, 030104 developmental biology, lcsh:Biology (General), Protein kinase domain, Mutation, NIH 3T3 Cells, epilepsy, Juvenile myoclonic epilepsy, ciliogenesis, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8fc9727f86f23c5758204e0886fb60Test
https://doi.org/10.3390/cells9030694Test -
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المؤلفون: José António Belo, Hiroshi Hamada, Shigenori Nonaka, Genta Sasaki, Junichi Nakai, Yasuko Asai, Hidetaka Shiratori, Satoko Yoshiba, Kyosuke Shinohara, Petra Pennekamp, Barbara E. Ehrlich, Ivana Y. Kuo, Aiko Kawasumi, Bernd Dworniczak, Hiroshi Sasaki
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: TRPP Cation Channels, Left-Right Determination Factors, Mutant, Kinesins, Expression, Lacking, Biology, Mice, Polycystic kidney disease, Sense (molecular biology), Fluid dynamics, Animals, KIF3A, Cilia, Body Patterning, Multidisciplinary, urogenital system, Protein, Cilium, Organizers, Embryonic, Left-right axis, Gene Expression Regulation, Developmental, Embryo, Anatomy, Embryo, Mammalian, Channel, Kif3A, Mice, Mutant Strains, Body Fluids, Left-right asymmetry, Cell biology, Flow (mathematics), Release, Mutation, Intercellular Signaling Peptides and Proteins, Calcium, NODAL, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b1b7cac0c88ba10e2fcdd4d196b8226Test
https://doi.org/10.1126/science.1222538Test -
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المؤلفون: Niedharsan Pooranachandran, Jarema Malicki
مصطلحات موضوعية: 0301 basic medicine, Kinesins, macromolecular substances, Biology, Investigations, Ciliary shaft, 03 medical and health sciences, Intraflagellar transport, Ciliogenesis, Genetics, Basal body, Animals, KIF3A, Cilia, Zebrafish, KIF17, Cilium, Zebrafish Proteins, Basal Bodies, Cell biology, Protein Transport, 030104 developmental biology, Phenotype, Flagella, Mutation, Kinesin, sense organs, Photoreceptor Cells, Vertebrate
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39739f8a0326913feec226aa0b38352Test
https://europepmc.org/articles/PMC4896193Test/ -
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المؤلفون: Daniel F. Eberl, Ritu Sarpal, Krishanu Ray, Elena Sivan-Loukianova, James W. Erickson, Sokol V. Todi, Narayan Subramanian, Elizabeth C. Raff, Seema Shirolikar
المصدر: Current Biology. 13:1687-1696
مصطلحات موضوعية: Male, Axoneme, Protein subunit, Mutant, Kinesins, Flagellum, Biology, General Biochemistry, Genetics and Molecular Biology, Intraflagellar transport, Animals, Drosophila Proteins, KIF3A, Cilia, Neurons, Afferent, Transgenes, Microscopy, Confocal, Agricultural and Biological Sciences(all), Biochemistry, Genetics and Molecular Biology(all), Cilium, Biological Transport, Spermatozoa, Cell biology, Microscopy, Electron, Acoustic Stimulation, Flagella, Mutagenesis, Mutation, Evoked Potentials, Auditory, Kinesin, Drosophila, Carrier Proteins, General Agricultural and Biological Sciences
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::062b789a5412d1f0377b6d3b3ed930d3Test
https://doi.org/10.1016/j.cub.2003.09.025Test -
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المؤلفون: Linh Thuong Vuong, Kwang-Wook Choi, Bibhash Mukhopadhyay
المصدر: Development (Cambridge, England). 141(16)
مصطلحات موضوعية: animal structures, Mutant, Molecular Sequence Data, Dishevelled Proteins, Golgi Apparatus, Kinesins, Biology, RNA interference, biology.animal, Animals, Drosophila Proteins, Humans, Wings, Animal, KIF3A, Amino Acid Sequence, Molecular Biology, beta Catenin, Adaptor Proteins, Signal Transducing, Body Patterning, Genetics, chemistry.chemical_classification, Armadillo Domain Proteins, Gene knockdown, Sequence Homology, Amino Acid, Gene Expression Profiling, Wnt signaling pathway, Gene Expression Regulation, Developmental, Cell Biology, Phosphoproteins, Cell biology, Dishevelled, Drosophila melanogaster, Phenotype, chemistry, Armadillo, Mutation, RNA Interference, Signal transduction, Developmental Biology, Signal Transduction, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40dc32791e75964b43bb67a4aee07b4bTest
https://pubmed.ncbi.nlm.nih.gov/25063455Test -
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المؤلفون: Takahisa Furukawa, Ryusuke Kuwahara, Taro Chaya, Yoshihiro Omori
المصدر: The EMBO journal. 33(11)
مصطلحات موضوعية: Male, BBSome, Kinesins, Flagellum, Biology, Protein Serine-Threonine Kinases, General Biochemistry, Genetics and Molecular Biology, Retina, Mice, Intraflagellar transport, Ciliogenesis, Animals, KIF3A, Hedgehog Proteins, Cilia, Phosphorylation, Molecular Biology, Lung, Mice, Knockout, Neurons, General Immunology and Microbiology, General Neuroscience, Cilium, Stem Cells, Brain, Biological Transport, Articles, Hedgehog signaling pathway, Cell biology, Mice, Inbred C57BL, Phenotype, Flagella, Organ Specificity, Mutation, Kinesin, Female, sense organs, Microtubule-Associated Proteins, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c52c0ec3aa5d247e5a015a3ab53c90Test
https://pubmed.ncbi.nlm.nih.gov/24797473Test