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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/ -
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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 -
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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 6مصطلحات 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 -
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المؤلفون: Martin Preisel, Sandra P. Toelle, Saskia B. Wortmann, Anja Uhmann, G. Christoph Korenke, Ingrid Bader, Raimund Kottke, Eugen Boltshauser, Gökhan Yigit, Bernd Wollnik, Heidi Hahn, Yun Li, Simone Schröder, Janine Altmüller, Saskia Biskup, Sarah Wente-Schulz, Steffi Dreha-Kulaczewski, Knut Brockmann, Johannes A. Mayr, Andrea Bevot
المساهمون: University of Zurich, Brockmann, Knut
المصدر: Genetics in Medicine
مصطلحات موضوعية: 2716 Genetics (clinical), SUFU, Apraxias, Kruppel-Like Transcription Factors, 610 Medicine & health, Biology, Joubert syndrome, Article, 03 medical and health sciences, sonic hedgehog, 0302 clinical medicine, GLI1, GLI2, GLI3, medicine, Cogan Syndrome, Humans, Hedgehog Proteins, Genetics(clinical), Sonic hedgehog, congenital ocular motor apraxia, Genetics (clinical), Exome sequencing, Genetics, Cilium, medicine.disease, Repressor Proteins, 10036 Medical Clinic, 030221 ophthalmology & optometry, biology.protein, COMA, Technology Platforms, Smoothened, 030217 neurology & neurosurgery
وصف الملف: application/pdf; PIIS1098360021025399.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b7d222dd018bf76c63722c436e41b0Test
http://edoc.mdc-berlin.de/20495/1/20495oa.pdfTest -
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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 Reportsمصطلحات 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.comTest/article /10.1038/s41598-019-47243-z -
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المؤلفون: Henry Houlden, Bert B.A. de Vries, Eva Pajkrt, Julie C. Van De Weghe, Caroline C W Klaver, Michael J. Bamshad, Inge B. Mathijssen, Majid Mojarrad, Deborah A. Nickerson, Jennifer C. Dempsey, Elizabeth van Leeuwen, Atieh Eslahi, Dan Doherty, Reza Maroofian, Mahsa Mohajeri, Dorien Lugtenberg, Caitlin V. Miller, Vimla Aggarwal, Aoife M. Waters, Jessica Giordano
المساهمون: Human genetics, Obstetrics and gynaecology, Human Genetics, Obstetrics and Gynaecology, Amsterdam Reproduction & Development (AR&D), APH - Personalized Medicine, APH - Quality of Care, Ophthalmology
المصدر: Human Genetics and Genomics Advances, 2(1):100016. Cell Press
HGG advances
HGG Advances, Vol 2, Iss 1, Pp 100016-(2021)
University of Washington Center for Mendelian Genomics 2021, ' TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes ', Human Genetics and Genomics Advances, vol. 2, no. 1, 100016 . https://doi.org/10.1016/j.xhgg.2020.100016Test
HGG Advances, 2, 1
HGG Advances, 2مصطلحات موضوعية: Meckel syndrome, Biology, QH426-470, Ciliopathies, Joubert syndrome, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, primary cilia, medicine, Genetics, retinal dystrophy, Exome, TMEM218, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Polydactyly, Cilium, cilia, Ciliary transition zone, medicine.disease, Ciliopathy, ciliopathy, Molecular Medicine
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9320a2754978790bb5943c5668224570Test
https://openaccess.sgul.ac.uk/id/eprint/113129/1/1-s2.0-S2666247720300166-main.pdfTest -
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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 -
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المؤلفون: Dagmar Wachten, Christy Catalano, Lei Xing, Garret D. Stuber, Tamara Caspary, E.S. Anton, Jeremy M. Simon, Janice Lee, Stephanie L. Gupton, Stéphane Schurmans, James M. Otis, Katherine H. Blackley, Sandii Constable, Amelia Lee, Sarah K. Suciu, Travis S. Ptacek, Jiami Guo
المصدر: Developmental Cell
Dev Cellمصطلحات موضوعية: Neurogenesis, Biology, Ciliopathies, General Biochemistry, Genetics and Molecular Biology, Joubert syndrome, Article, Retina, Mice, 03 medical and health sciences, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, Cerebellum, INPP5E, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Axon, Molecular Biology, Protein kinase B, PI3K/AKT/mTOR pathway, 030304 developmental biology, 0303 health sciences, Cilium, Brain, Cell Biology, Kidney Diseases, Cystic, medicine.disease, Axons, Cell biology, Disease Models, Animal, medicine.anatomical_structure, Mutation, Second messenger system, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ddcf964c8b55e026c12dd07c70a62ddTest
https://hdl.handle.net/21.11116/0000-0006-41FA-721.11116/0000-0006-41FC-5Test -
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المؤلفون: Meral Gunay-Aygun, Hiroko Shimada, Christopher J. Westlake, Artur V. Cideciyan, Milton A. English, Kunio Nagashima, Tiansen Li, Anand Swaroop, Quanlong Lu, Brian P. Brooks, Christine Insinna-Kettenhofen, Elizabeth M. Semler, Samuel G. Jacobson, Tiziana Cogliati, Jacklyn Mahgerefteh
المصدر: Cell Reports, Vol 20, Iss 2, Pp 384-396 (2017)
مصطلحات موضوعية: 0301 basic medicine, genetic structures, Hedgehog signaling, Cell Cycle Proteins, Ciliopathies, Receptors, G-Protein-Coupled, Mice, 0302 clinical medicine, Induced pluripotent stem cell, lcsh:QH301-705.5, Mice, Knockout, iPSC, ADP-Ribosylation Factors, LCA, Cilium, Homozygote, Smoothened Receptor, Hedgehog signaling pathway, Neoplasm Proteins, Cell biology, Adenylyl Cyclases, Cell signaling, organoid, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, primary cilia, Antigens, Neoplasm, Joubert syndrome, Ciliogenesis, medicine, Animals, Humans, Hedgehog Proteins, Cilia, Alleles, Fibroblasts, medicine.disease, eye diseases, Cytoskeletal Proteins, Ciliopathy, 030104 developmental biology, lcsh:Biology (General), Mutation, retinal degeneration, ciliopathies, ciliary transition zone, sense organs, Smoothened, ciliogenesis, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd613ec86ac5d639be83bfc56b39b754Test
https://doi.org/10.1016/j.celrep.2017.06.045Test -
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المؤلفون: John Hoon Rim, Sumeda Nandadasa, Jan Halbritter, Heon Yung Gee, Suneel S. Apte, Friedhelm Hildebrandt, Sidharth Kumar Sethi, Friederike Körber, Richard P. Lifton, Bodo B. Beck, Yo Jun Choi, David Schapiro, Daniela A. Braun, Markus Schueler, Shirlee Shril, Won-Il Choi, Eugen Widmeier
مصطلحات موضوعية: 0301 basic medicine, Male, endocrine system, ADAMTS9 Protein, Biology, Ciliopathies, Joubert syndrome, Article, 03 medical and health sciences, 0302 clinical medicine, Nephronophthisis, Spheroids, Cellular, Genetics, medicine, Animals, Humans, Cilia, Genetics (clinical), Exome sequencing, Zebrafish, Polycystic Kidney Diseases, Cilium, Zebrafish Proteins, medicine.disease, Disease gene identification, Molecular biology, Hedgehog signaling pathway, Ciliopathy, 030104 developmental biology, Phenotype, Mutation, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b371a0da5bfc3a6190f226d36385f6Test
https://europepmc.org/articles/PMC6323550Test/
