المؤلفون: Wolfgang Baehr, Cecilia D. Gerstner, Ali Sakawa Sharif, Jeanne M. Frederick, Martha A. Cady, Vadim Y. Arshavsky, Christina Anne Mitchell, Guoxin Ying

المصدر: The Journal of Biological Chemistry

مصطلحات موضوعية: 0301 basic medicine, Axoneme, genetic structures, INPP5E, RIS, rod inner segment, ONL, outer nuclear layer, IS, inner segment, Biochemistry, Mice, Retinal Rod Photoreceptor Cells, Morphogenesis, Mice, Knockout, Chemistry, Cilium, rod and cone photoreceptors, Retinal Degeneration, Cell biology, disc morphogenesis, connecting cilium, Protein Transport, medicine.anatomical_structure, Retinal Cone Photoreceptor Cells, CETN2, centrin-2, Visual phototransduction, Research Article, COS, cone outer segment, PI4P, phosphoinositol-4-phosphate, Retina, 03 medical and health sciences, Intraflagellar transport, Joubert syndrome, CC, connecting cilia, medicine, Animals, Outer nuclear layer, Eye Proteins, Molecular Biology, CO, Covance, Inc, INPP5E, phosphatidylinositol polyphosphate 5-phosphatase, ERG, electroretinography, ROS, rod outer segments, 030102 biochemistry & molecular biology, Cell Biology, medicine.disease, Phosphoric Monoester Hydrolases, PT, Proteintech, Ciliopathy, PIP2, PI (4, 5)P2, 030104 developmental biology, retina degeneration, sense organs, PFA, paraformaldehyde, IFT, intraflagellar transport, JBTS, Joubert syndrome, OS, outer segment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a678b53f03ba002421b1df8a573c65a1Test
http://europepmc.org/articles/PMC8047226Test

المؤلفون: Melissa R. Bentley-Ford, Reagan S. Andersen, Mandy J. Croyle, Courtney J. Haycraft, Kelsey R. Clearman, Jeremy B. Foote, Jeremy F. Reiter, Bradley K. Yoder

المصدر: Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, kidney, QH301-705.5, acinar-to-ductal metaplasia (ADM), heart, Biology, Joubert syndrome, Cell and Developmental Biology, Nephronophthisis, medicine, Glucose homeostasis, pancreas, Biology (General), Original Research, Kidney, Embryonic heart, Cilium, cilia, Cell Biology, medicine.disease, ataxin 10 (ATXN10), Ciliopathy, medicine.anatomical_structure, Spinocerebellar ataxia, epithelial-to-mesenchymal transition (EMT), Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aa419a7768890a294be280429ab05bdTest
http://europepmc.org/articles/PMC8712648Test

المؤلفون: Piali Sengupta, Ashish K. Maurya

المصدر: Curr Biol

مصطلحات موضوعية: Regulator, Biology, Protein Serine-Threonine Kinases, General Biochemistry, Genetics and Molecular Biology, Joubert syndrome, Article, Retina, Microtubule, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Kinase, Cilium, Kidney Diseases, Cystic, medicine.disease, Sensory neuron, Cell biology, Ciliopathy, medicine.anatomical_structure, Domain of unknown function, Mitogen-Activated Protein Kinases, General Agricultural and Biological Sciences

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11458d26881575e71ed916170bfb318Test
https://europepmc.org/articles/PMC8692433Test/

المؤلفون: Jürgen Spranger, Danielle Monteil, Katherine A Inskeep, Dan Doherty, Yuri A. Zarate, K. Nicole Weaver, Rolf W. Stottmann

المصدر: Am J Med Genet A

مصطلحات موضوعية: Biology, Ciliopathies, Joubert syndrome, Retina, Article, Ciliogenesis, Cerebellum, Genetics, medicine, Humans, Abnormalities, Multiple, Hedgehog Proteins, Cilia, Eye Abnormalities, Sonic hedgehog, Genetics (clinical), Genetic heterogeneity, Cilium, Wnt signaling pathway, Kidney Diseases, Cystic, medicine.disease, Cell biology, Ciliopathy, biology.protein, Microtubule-Associated Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462ea962bd0bc9435aee21b6c45b9cd5Test
https://pubmed.ncbi.nlm.nih.gov/34523780Test

المؤلفون: Ashish K. Maurya, Piali Sengupta

مصطلحات موضوعية: Ciliopathy, medicine.anatomical_structure, Microtubule, Kinase, Cilium, Mutant, medicine, Regulator, Biology, medicine.disease, Joubert syndrome, Sensory neuron, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5fbf4ba3c1eb4cc6fcaa91168ede50bcTest
https://doi.org/10.1101/2021.05.09.443182Test

المؤلفون: Tang K. Tang, Jhih-Jie Tsai, Rong-Bin Li, Ting-Yu Chen, I-Ling Lu, Pin-Yeh Lin, Chia-Hsiang Chang

المصدر: Genesdevelopment. 35(21-22)

مصطلحات موضوعية: Centriole, Cilium, Cell Cycle, Cell Cycle Proteins, Cell cycle, Biology, Kidney Diseases, Cystic, medicine.disease, Joubert syndrome, Retina, Cell biology, Ciliopathy, Cerebellum, Genetics, medicine, Humans, Abnormalities, Multiple, Cerebellar hypoplasia (non-human), Eye Abnormalities, Progenitor cell, Microtubule-Associated Proteins, Biogenesis, Developmental Biology, Centrioles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fbdcb360d0efb106e2eff114f66ead9Test
https://pubmed.ncbi.nlm.nih.gov/34711653Test

المؤلفون: Joseph G. Gleeson, Qiong Song

المصدر: Developmental Cell. 51:661-663

مصطلحات موضوعية: 0303 health sciences, Cell signaling, Cerebellum, Cilium, Cell Biology, Biology, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Joubert syndrome, 03 medical and health sciences, Ciliopathy, 0302 clinical medicine, medicine.anatomical_structure, medicine, Signal transduction, Molecular Biology, Protein kinase B, Neuroscience, 030217 neurology & neurosurgery, PI3K/AKT/mTOR pathway, 030304 developmental biology, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a9295d19ac624f4355f018d798b13cf8Test
https://doi.org/10.1016/j.devcel.2019.11.017Test

المؤلفون: Philip Booth, John A. Sayer, Seamus M. McLafferty, Laura A. Devlin, Kathryn White, Colin G. Miles, Meral Gunay-Aygun, Shalabh Srivastava, Elisa Molinari, Simon A. Ramsbottom, Sumaya Alkanderi

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Nonsense mutation, lcsh:Medicine, Biology, Compound heterozygosity, Joubert syndrome, Article, Retina, Antisense oligonucleotide therapy, 03 medical and health sciences, Exon, 0302 clinical medicine, Ciliogenesis, Cerebellum, medicine, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, lcsh:Science, Multidisciplinary, Paediatric kidney disease, Cilium, lcsh:R, Exons, Fibroblasts, Kidney Diseases, Cystic, medicine.disease, Exon skipping, Ciliopathies, Cell biology, Ciliopathy, Protein Transport, 030104 developmental biology, Mechanisms of disease, lcsh:Q, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fc2779f7c9b1c9b2902fb07b63aa3aTest
http://link.springer.com/article/10.1038/s41598-019-47243-zTest

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