المؤلفون: Ruikun Hu, Ying Cao, Hong Wang, Jingyu Li, Miaomiao Jin, Weilai Huang, Wenyan Xu

المصدر: The FASEB Journal. 33:2848-2857

مصطلحات موضوعية: 0301 basic medicine, Cilium, Biology, medicine.disease, Biochemistry, Joubert syndrome, Cell biology, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Ezrin, chemistry, Ciliogenesis, INPP5E, Genetics, medicine, Polycystic kidney disease, Basal body, Phosphatidylinositol, Molecular Biology, 030217 neurology & neurosurgery, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eed907e84654d47f4de8fd96266cd104Test
https://doi.org/10.1096/fj.201800385rrrTest

المؤلفون: Angela D'Anzi, Giuseppe Lamorte, Angelo L. Vescovi, Iolanda Spasari, Daniela Ferrari, Jessica Rosati, Filomena Altieri, Enza Maria Valente, Laura Bernardini, Silvia Tardivo, Francesco Martello, Gianluigi Mazzoccoli

المساهمون: Altieri, F, D'Anzi, A, Martello, F, Tardivo, S, Spasari, I, Ferrari, D, Bernardini, L, Lamorte, G, Mazzoccoli, G, Valente, E, Vescovi, A, Rosati, J

المصدر: Stem Cell Research
Stem Cell Research, Vol 38, Iss, Pp-(2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Joubert syndrome, iPSC, neurodevelopmental disorder, Induced Pluripotent Stem Cells, Mutation, Missense, Biology, medicine.disease_cause, Ciliopathies, Joubert syndrome, Article, Retina, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Cerebellum, medicine, Missense mutation, Basal body, Humans, Abnormalities, Multiple, Eye Abnormalities, lcsh:QH301-705.5, Gene, Mutation, iPSC, Cilium, Homozygote, BIO/13 - BIOLOGIA APPLICATA, Cell Biology, General Medicine, Kidney Diseases, Cystic, medicine.disease, neurodevelopmental disorder, Molecular biology, Induced Pluripotent Stem Cells, Joubert Syndrome, 3. Good health, Adaptor Proteins, Vesicular Transport, 030104 developmental biology, lcsh:Biology (General), 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827efcd243eff2a77b31eea48ecffb30Test
http://europepmc.org/articles/PMC6617992Test

المؤلفون: Brunella Franco, Manuela Morleo

المساهمون: Morleo, M, Franco, B, Morleo, M., Franco, B.

المصدر: Biochemical Society transactions. 48(5)

مصطلحات موضوعية: Cell type, Cytoplasm, Biology, Kidney, Biochemistry, Chromatin remodeling, Joubert syndrome, Retina, 03 medical and health sciences, Rare Diseases, Cerebellum, medicine, Basal body, Animals, Humans, Abnormalities, Multiple, DNA Breaks, Double-Stranded, Cilia, Eye Abnormalities, Gene, 030304 developmental biology, Primary ciliary dyskinesia, Cell Nucleus, Centrosome, 0303 health sciences, Chromosomes, Human, X, Cilium, 030305 genetics & heredity, Cell Cycle, Cell Membrane, Proteins, Genetic Diseases, X-Linked, Kidney Diseases, Cystic, medicine.disease, pleiotropic protein, Chromatin, Cell biology, Ciliopathy, Phenotype, Mutation, OFD1, Retinitis Pigmentosa, Ciliary Motility Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dbf3ffbe141f14b353d1c34cd871f90Test
https://pubmed.ncbi.nlm.nih.gov/32897366Test

المؤلفون: Ezequiel M. Salido, Thamaraiselvi Saravanan, Abigail R. Moye, Tanya L. Dilan, Andrew F.X. Goldberg, Visvanathan Ramamurthy, Saravanan Kolandaivelu

مصطلحات موضوعية: Male, Aging, Axoneme, genetic structures, Joubert syndrome, Retina, 03 medical and health sciences, chemistry.chemical_compound, Gene Knockout Techniques, Mice, 0302 clinical medicine, Intraflagellar transport, medicine, Basal body, Animals, Sensory Rhodopsins, Small GTPase, Cilia, Eye Proteins, Research Articles, 030304 developmental biology, 0303 health sciences, Organelle Biogenesis, biology, ADP-Ribosylation Factors, General Neuroscience, Cilium, Gene Expression Regulation, Developmental, Retinal, medicine.disease, Rod Cell Outer Segment, eye diseases, Cell biology, Mice, Inbred C57BL, Protein Transport, chemistry, Rhodopsin, biology.protein, Female, sense organs, 030217 neurology & neurosurgery, Visual phototransduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79db1fa7a6211c806477dce241bcb2c1Test
https://europepmc.org/articles/PMC6381253Test/

المؤلفون: Brian David Dynlacht, Sehyun Kim

المصدر: Current Opinion in Cell Biology. 25:506-511

مصطلحات موضوعية: Centriole, Cilium, Cell Biology, Biology, medicine.disease, Microtubules, Ciliopathies, Article, Joubert syndrome, Cell biology, Intraflagellar transport, Microtubule, medicine, Motile cilium, Animals, Humans, Basal body, Cilia, Centrioles, Ciliary Motility Disorders, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81b387538e514f0fbedd7d4247f6093Test
https://doi.org/10.1016/j.ceb.2013.04.011Test

المؤلفون: Hadeel Adel Al-Lami, Kevin Drew, Yvonne Yeung, Karen J. Liu, Tae Joo Park, Anne Malfroot, Ghislaine Pierquin, Yannis Duffourd, Chanjae Lee, Marcus R. Kelly, Jiang Chen, Daniella Braun, Christel Thauvin-Robinet, Brunella Franco, Ange Line Bruel, Jacqueline M. Tabler, Kerstin Wagner, Deborah Krakow, Sukyoung Kim, Inusha Panigrahi, Edward M. Marcotte, Jean Baptiste Rivière, Armand Biver, Yeon Ja Choi, S. Paige Taylor, Laurence Faivre, Ivan Duran, Peter K. Jackson, Michinori Toriyama, John B. Wallingford, Daniel H. Cohn, Friedhelm Hildebrandt

المساهمون: Department of Molecular Biosciences, The University of Texas at Austin, Departement of human genetics [Los Angeles], Computer Science Department [Los Angeles] ( UCLA ), University of California at Los Angeles [Los Angeles] ( UCLA ) -University of California at Los Angeles [Los Angeles] ( UCLA ), David Geffen School of Medicine [Los Angeles], University of California at Los Angeles [Los Angeles] ( UCLA ), Department of Molecular Cellular and Developmental Biology, University of California at Los Angeles [Los Angeles] ( UCLA ) -Howard Hughes Medical Institute (HHMI), Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Department of Microbiology and Immunology, Stanford University School of Medicine, Division of Polar Earth-System Sciences, Korea Polar Research Institute ( KOPRI ), Howard Hughes Medical Institute [Chevy Chase] ( HHMI ), Howard Hugues Medical Institute, Centre de Génétique Humaine, Université de Liège-CHU Liège, Département de Génétique, CHU, Liège, KannerKlinik Pédiatrie générale, Centre Hospitalier de Luxembourg (CHL), Units of Pediatric Pulmonology, Universitair Ziekenhuis Brussel, Advanced Pediatric Center ( PGIMER ), Pediatry center, Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Kings College London Dental Institute, The State University of New York ( SUNY ), Lung GO Sequencing Project HL-102923 WHI Sequencing Project HL-102924 Broad GO Sequencing Project HL-102925 Seattle GO Sequencing Project HL-102926 Heart GO Sequencing Project HL-103010 NHGRI NHLBI 1U54 HG006493 HL117164 Uehara Memorial Foundation Fellowship NIDCR NRSA French Rare Diseases Foundation French Ministry of Health (PHRC national) Regional Council of Burgundy NIDDK DK1068306 NIAMS AR061485 BBSRC BB/K010492/1 MRC MR/L017237/1 NIH NSF CPRIT 2010-A01014-35Welch Foundation F-1515 March of Dimes R01 AR066124 Joseph Drown Foundation NIH/NCATS UCLA CTSI grant UL1TR000124 R01 AR062651 NIGMS GM114276 GM104853 Baxter Laboratory Stanford Department of Research, Clinical sciences, Growth and Development, Computer Science Department [Los Angeles] (UCLA), University of California [Los Angeles] (UCLA), University of California-University of California-University of California [Los Angeles] (UCLA), University of California-University of California, University of California-University of California-Howard Hughes Medical Institute (HHMI), Génétique des Anomalies du Développement (GAD), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Microbiology and Immunology [Stanford], Stanford Medicine, Stanford University-Stanford University, Korea Polar Research Institute (KOPRI), Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre Hospitalier de Luxembourg [Luxembourg] (CHL), Advanced Pediatric Center (PGIMER), London Dental Institute (LDI), King‘s College London, State University of New York (SUNY), Toriyama, Michinori, Lee, Chanjae, Taylor, S. Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniella, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yanni, Faivre, Laurence, Rivière, Jean Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B.

المصدر: Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (6), pp.648-656. 〈http://www.nature.com/ng/journal/v48/n6/full/ng.3558.htmlTest〉. 〈10.1038/ng.3558〉
Nature genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (6), pp.648-656. ⟨10.1038/ng.3558⟩
Toriyama, M, Lee, C, Taylor, S P, Duran, I, Cohn, D H, Bruel, A L, Tabler, J M, Drew, K, Kelly, M R, Kim, S, Park, T J, Braun, D, Pierquin, G, Biver, A, Wagner, K, Malfroot, A, Panigrahi, I, Franco, B, Al-lami, H A, Yeung, Y, Choi, Y J, Duffourd, Y, Faivre, L, Rivière, J B, Chen, J, Liu, K J, Marcotte, E M, Hildebrandt, F, Thauvin-Robinet, C, Krakow, D, Jackson, P K & Wallingford, J B 2016, ' The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery ', Nature Genetics, vol. 48, no. 6, pp. 648-656 . https://doi.org/10.1038/ng.3558Test

مصطلحات موضوعية: 0301 basic medicine, Axoneme, primary ciliary dyskinesia, chlamydomonas flagella, planar cell polarity, Biology, Ciliopathies, Article, 03 medical and health sciences, Mice, Intraflagellar transport, Ciliogenesis, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, axonemal dyneins, medicine, Genetics, Basal body, Animals, Humans, tubulin transport, effector fuz, vesicle docking, embryonic-development, Cilium, Proteins, joubert syndrome, medicine.disease, Cell biology, Transport protein, Ciliopathy, Protein Transport, 030104 developmental biology, Phenotype, Flagella, Mutation, sense organs, ift-a complex, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Protein Binding

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::928387e2666bb11975957837c1cac7b1Test
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01409096Test

المؤلفون: Dai Shiba, Takahiko Yokoyama

المصدر: Differentiation. 83:S91-S96

مصطلحات موضوعية: Cancer Research, Biology, Ciliopathies, Joubert syndrome, Evolution, Molecular, medicine, Animals, Humans, Basal body, Cilia, Caenorhabditis elegans, Ciliary tip, Molecular Biology, Ciliary membrane, Adaptor Proteins, Signal Transducing, Genetics, Cilium, Membrane Proteins, Cell Biology, medicine.disease, Cell biology, Cytoskeletal Proteins, Ciliopathy, Ciliary base, Chlamydomonas reinhardtii, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8c8f5028324e265175b4099d7a3da2Test
https://doi.org/10.1016/j.diff.2011.11.006Test

المؤلفون: Eugen Boltshauser, André Reis, Peter Nürnberg, Amy M. Fraser, Pleasantine Mill, Gemma M. Davis, Uwe Wolfrum, Oliver Rompel, Arif B. Ekici, Steffen Uebe, Rami Abou Jamra, Lynn McTeir, Hanno J. Bolz, Emma Hall, Courtney Cross, Lars Tebbe, Gudrun Nürnberg, Michaela Thoenes, Nicolas Daudet, Hasan Tawamie, Megan Davey, Holger Thiele, Louise A. Stephen

المصدر: eLife, Vol 4 (2015)
eLife
Stephen, L A, Tawamie, H, Davis, G M, Tebbe, L, Nürnberg, P, Nürnberg, G, Thiele, H, Thoenes, M, Boltshauser, E, Uebe, S, Rompel, O, Reis, A, Ekici, A B, McTeir, L, Fraser, A M, Hall, E, Mill, P, Daudet, N, Cross, C, Wolfrum, U, Jamra, R A, Davey, M G & Bolz, H J 2015, ' TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) ', eLIFE, vol. 4, no. September, 2015;4:e08077, pp. 1-22 . https://doi.org/10.7554/eLife.08077Test

مصطلحات موضوعية: QH301-705.5, chicken, Science, Population, Cell Cycle Proteins, Biology, medicine.disease_cause, Retina, General Biochemistry, Genetics and Molecular Biology, Joubert syndrome, Mice, Talpid3, Cerebellum, Ciliogenesis, medicine, Animals, Humans, Basal body, Abnormalities, Multiple, human, Eye Abnormalities, Biology (General), Human Biology and Medicine, education, mouse, Genetics, Mutation, education.field_of_study, General Immunology and Microbiology, General Neuroscience, Cilium, General Medicine, Kidney Diseases, Cystic, medicine.disease, KIAA0586, 3. Good health, Disease Models, Animal, cell polarity, Ciliopathy, Developmental Biology and Stem Cells, ciliopathy, centrosome, Centrosome, Medicine, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::479d9ca14bf669dbe86598cc878ae8f1Test
https://doi.org/10.7554/elife.08077Test

المؤلفون: Corey L. Williams, Bradley K. Yoder, Svetlana V. Masyukova

المصدر: Journal of the American Society of Nephrology. 21:782-793

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Sensory Receptor Cells, Biology, Ciliopathies, Joubert syndrome, Cystic kidney disease, Nephronophthisis, Ciliogenesis, medicine, Animals, Basal body, Cilia, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Alleles, urogenital system, Chemotaxis, Cilium, Membrane Proteins, General Medicine, Kidney Diseases, Cystic, medicine.disease, Cell biology, Ciliopathy, Basic Research, Gene Expression Regulation, Nephrology, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::036999bfdba2d85e8f7de4de20e632fdTest
https://doi.org/10.1681/asn.2009060597Test

المؤلفون: Bradley K. Yoder, Corey L. Williams, Edward J. Michaud, Jenny C. Schafer, Marlene E. Winkelbauer

المصدر: Molecular Biology of the Cell. 19:2154-2168

مصطلحات موضوعية: Joubert syndrome, Ciliogenesis, medicine, Animals, Basal body, Cilia, Neurons, Afferent, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Coloring Agents, Molecular Biology, Alleles, Conserved Sequence, Genes, Helminth, Body Patterning, Genetics, Cystic kidney, biology, Cilium, Ciliary transition zone, Amphid, Articles, Dendrites, Feeding Behavior, Cell Biology, biology.organism_classification, medicine.disease, Protein Transport, Mutation, Neuroglia, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07adfd0903adcc56626bc8092702116bTest
https://doi.org/10.1091/mbc.e07-10-1070Test