المؤلفون: Faber, Siebren¹ (AUTHOR), Letteboer, Stef J. F.¹ (AUTHOR), Junger, Katrin² (AUTHOR), Butcher, Rossano³ (AUTHOR), Tammana, Trinadh V. Satish¹ (AUTHOR), van Beersum, Sylvia E. C.¹ (AUTHOR), Ueffing, Marius² (AUTHOR), Collin, Rob W. J.⁴ (AUTHOR), Liu, Qin³ (AUTHOR), Boldt, Karsten² (AUTHOR), Roepman, Ronald¹ (AUTHOR) ronald.roepman@radboudumc.nl

المصدر: Cells (2073-4409). Jan2023, Vol. 12 Issue 2, p312. 22p.

مصطلحات موضوعية: *JOUBERT syndrome, *CILIA & ciliary motion, *PROTEINS, *RETINAL degeneration, *EXTRACELLULAR vesicles, *UBIQUITINATION

المؤلفون: Casoni, Filippo, Croci, Laura, Vincenti, Francesca, Podini, Paola, Riba, Michela, Massimino, Luca, Cremona, Ottavio, Consalez, G. Giacomo

المصدر: Development (09501991); Nov2020, Vol. 147 Issue 22, p1-13, 13p

مصطلحات موضوعية: CHOROID plexus, RHOMBENCEPHALON, JOUBERT syndrome, CEREBROSPINAL fluid, EPITHELIAL cells

المؤلفون: Ahmad Bilal Araissi, Alaa E. Fayed, Youssef Helmy

مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Development and Disorders of Fetal Brain, Pediatrics, Perinatology and Child Health, Medicine, Health Sciences, Brain Fluid Dynamics and Waste Clearance Mechanisms, Cellular and Molecular Neuroscience, Neuroscience, Fetal MRI, Joubert syndrome, Glory, Morning, Fetus, Pediatrics, Internal medicine, Pregnancy, Biology, Cilium, Cell biology, Physics, Optics

العلاقة: https://dx.doi.org/10.60692/6459s-a0c44Test

الإتاحة: https://doi.org/10.60692/6mfpm-s0p1810.60692/6459s-a0c44Test

المؤلفون: Muqing Cao, Dan Meng, Minjun Jin, Tian Zhu, Chao Lu, Yong Zhao, Xuan Zou, Huike Jiao, Gao Huafang, Chengtian Zhao, Zaisheng Lin, Yue Shen, Xueyan Wang, Li Cao, Min Huang, Hui Li, Cai Ruikun, Xu Ma, Minna Luo, Ruida He, Guanjun Luo, Cao Zongfu, Ruifang Sui, Shijing Wu

المصدر: Genetics in Medicine. 23:1041-1049

مصطلحات موضوعية: Genetics, Cilium, Kidney Diseases, Cystic, Biology, medicine.disease, Ciliopathies, Phosphoric Monoester Hydrolases, Retina, Joubert syndrome, Cytoskeletal Proteins, Ciliopathy, Intraflagellar transport, Cerebellum, Ciliogenesis, INPP5E, medicine, Animals, Humans, Abnormalities, Multiple, Hedgehog Proteins, Eye Abnormalities, sense organs, Ciliary membrane, Zebrafish, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127ad44b0bfaf0e2964913f0402a42d6Test
https://doi.org/10.1038/s41436-021-01106-zTest

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: Susanne Roosing, Marta Romani, Mala Isrie, Rasim Özgür Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al‐Gazali, Umut Altunoğlu, Eugen Boltshauser, Stefano D'Arrigo, B. De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R. Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Dua Puri, Hilde Van Esch, Joseph G. Gleeson, Enza Maria Valente

مصطلحات موضوعية: Ciliopathies Genetic Disorders Involving Primary Cilia, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Hedgehog Signaling in Development and Cancer, Molecular Biology, Development and Disorders of Fetal Brain, Pediatrics, Perinatology and Child Health, Medicine, Health Sciences, Ciliopathies, Ciliopathy, Joubert syndrome, Exome sequencing, Biology, Phenotype, Genetic heterogeneity, Cilium, Gene

العلاقة: https://dx.doi.org/10.60692/0tq4z-abz84Test

الإتاحة: https://doi.org/10.60692/2adxf-yxp7510.60692/0tq4z-abz84Test

المؤلفون: Karen I. Lange, Katarzyna Kucharska, Sofia Tsiropoulou, Oliver E. Blacque

المصدر: Disease Models & Mechanisms, Vol 14, Iss 1 (2021)
Disease Models & Mechanisms
article-version (VoR) Version of Record

مصطلحات موضوعية: Genotype, Neuroscience (miscellaneous), Mutation, Missense, Medicine (miscellaneous), lcsh:Medicine, Biology, Compound heterozygosity, Ciliopathies, General Biochemistry, Genetics and Molecular Biology, Joubert syndrome, Retina, b9d2, Immunology and Microbiology (miscellaneous), Cerebellum, medicine, lcsh:Pathology, Animals, Humans, Abnormalities, Multiple, Eye Abnormalities, mksr-2, Meckel syndrome, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Alleles, Genetic Association Studies, Genetics, Phenocopy, Gene Editing, Cilium, c. elegans, lcsh:R, cilia, Membrane Proteins, joubert syndrome, Kidney Diseases, Cystic, medicine.disease, Ciliopathy, Disease Models, Animal, Phenotype, Mutation, transition zone, CRISPR-Cas Systems, Ciliary base, Research Article, lcsh:RB1-214

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::672913a06fdceb838ade177f9e39c0f3Test
http://dmm.biologists.org/content/14/1/dmm046631Test

المؤلفون: Gulten Tuncel, Yeliz Engindereli, Sehime Gulsun Temel, Mahmut Cerkez Ergoren, Bahar Kaymakamzade

المصدر: Genes, Vol 12, Iss 945, p 945 (2021)
Genes
Volume 12
Issue 6

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Mutation, Missense, AHI1, Disease, QH426-470, Retina, Article, Joubert syndrome, 03 medical and health sciences, 0302 clinical medicine, Cerebellum, medicine, CC2D1A, Genetics, Humans, Abnormalities, Multiple, Eye Abnormalities, Oculomotor apraxia, Gene, Genetics (clinical), business.industry, Cilium, Homozygote, Kidney Diseases, Cystic, medicine.disease, Phenotype, Ciliopathies, eye diseases, Adaptor Proteins, Vesicular Transport, Ciliopathy, 030104 developmental biology, ciliopathy, business, 030217 neurology & neurosurgery, Truncal ataxia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54bbcce5d9942a67d990ee279d5546ccTest
https://www.mdpi.com/2073-4425/12/6/945Test

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