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: Dan Doherty, Nadine Bachmann, Rachel H. Giles, Erica E. Davis, Asbjørn Holmgren, Dulika S. Sumathipala, Barbara Käsmann-Kellner, Lokuliyange D S Senaratne, Suzanne Crowley, Sebastian Patzke, Nicholas Katsanis, Petter Strømme, Daniel Epting, Christian Decker, Kari-Anne M Frikstad, Carsten Bergmann, Manuela Zucknick, Diana Bracht, Tuva Barøy, Elisabeth Ott, Eva Decker, Soeren S. Lienkamp, Doriana Misceo, Ian G. Phelps, Heymut Omran, Miriam Schmidts, Alma Sikiric, Selma Mujezinovic Larsen, Julia Wallmeier, Eirik Frengen

المصدر: Human Mutation

مصطلحات موضوعية: Male, Pathology, Ciliopathies, whole exome sequencing, CBY1, Cerebellum, Eye Abnormalities, Child, Research Articles, Zebrafish, Genetics (clinical), Exome sequencing, 0303 health sciences, Polydactyly, Cilium, Homozygote, 030305 genetics & heredity, Nuclear Proteins, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Smoothened Receptor, Pedigree, 3. Good health, Phenotype, Child, Preschool, primary cilia defect, Female, medicine.symptom, Research Article, medicine.medical_specialty, Adolescent, Biology, Retina, Joubert syndrome, Young Adult, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, 030304 developmental biology, Cerebellar ataxia, Genetic heterogeneity, Infant, Newborn, Infant, Fibroblasts, medicine.disease, Ciliopathy, ciliopathy, Mutation, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff060a6ff69fa03ce10682a61d2879e7Test
https://doi.org/10.1002/humu.24127Test

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: 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: 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: 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: 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

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: Fowzan S. Alkuraya, Mais Hashem, Joseph G. Gleeson, Tarfa Al-Sheddi, Fatema Alzahrani, Firdous Abdulwahab, Nadia Saqati, Mohammad M. Al-Qattan, Valentina Stanley, Futwan Al-Mohanna, Nour Ewida, Eman Alobeid, Abduljabbar Alshenqiti, Fatma Mujgan Sonmez, Hamad Al-Zaidan, Ranad Shaheen, Damir Musaev, Niema Ibrahim, Nan Jiang

المصدر: The American Journal of Human Genetics. 104:731-737

مصطلحات موضوعية: Male, Adolescent, Turkey, Genes, Recessive, Biology, Nervous System Malformations, Ciliopathies, Retina, Joubert syndrome, Consanguinity, 03 medical and health sciences, Report, Cerebellum, Ciliogenesis, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Cilia, Eye Abnormalities, Alleles, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Polydactyly, Genetic heterogeneity, Cilium, Homozygote, 030305 genetics & heredity, Sequence Analysis, DNA, Kidney Diseases, Cystic, Orofaciodigital Syndromes, medicine.disease, eye diseases, Cytoskeletal Proteins, Ciliopathy, Phenotype, Child, Preschool, Mutation, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae46f21cdaf9ed5cb81a3130d68fdd4Test
https://doi.org/10.1016/j.ajhg.2019.02.018Test