نتائج البحث - "JOUBERT syndrome"

1

CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum

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)

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

2

TALPID3 in Joubert syndrome and related ciliopathy disorders

المؤلفون: Megan Davey, Amy M. Fraser

المصدر: Fraser, A & Davey, M 2019, ' TALPID3 in Joubert Syndrome and related ciliopathy disorders ', Current Opinion in Genetics and Development . https://doi.org/10.1016/j.gde.2019.06.010Test

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9478b4faac9bc1db4511f241a538e1d7Test
https://doi.org/10.1016/j.gde.2019.06.010Test

3

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

المؤلفون: Flora Silberman, Laura A. Devlin, Elisa Molinari, Kathryn White, David H. W. Steel, John A. Sayer, Simon A. Ramsbottom, Charline Henry, Sumaya Alkanderi, Sophie Saunier, Colin G. Miles, Shalabh Srivastava

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: 0301 basic medicine, Male, Medical Sciences, Adolescent, antisense oligonucleotide therapy, Cell Cycle Proteins, Cep290, 030105 genetics & heredity, Kidney, Joubert syndrome, Retina, 03 medical and health sciences, Cystic kidney disease, Mice, Antigens, Neoplasm, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Eye Abnormalities, cystic kidney, Cells, Cultured, Cystic kidney, Multidisciplinary, business.industry, Cilium, Ciliary transition zone, Nuclear Proteins, Epithelial Cells, Exons, Biological Sciences, Kidney Diseases, Cystic, medicine.disease, Exon skipping, 3. Good health, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, ciliopathy, Mutation, Cancer research, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0126830e44fb3472a8aa56cbccc901fTest
http://europepmc.org/articles/PMC6298104Test

4

A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome

المؤلفون: Bachmann-Gagescu, Ruxandra

المساهمون: University of Zurich, Bachmann-Gagescu, Ruxandra

المصدر: The Journal of Pathology

مصطلحات موضوعية: 0301 basic medicine, cerebellum, 10039 Institute of Medical Genetics, Central nervous system, 610 Medicine & health, Cell Cycle Proteins, Biology, Ciliopathies, Retina, Joubert syndrome, Pathology and Forensic Medicine, Mice, sonic hedgehog, 03 medical and health sciences, Human health, primary cilia, 0302 clinical medicine, medicine, Animals, Humans, Abnormalities, Multiple, Hedgehog Proteins, Cilia, Eye Abnormalities, Original Paper, Cilium, ataxia, Kidney Diseases, Cystic, medicine.disease, Original Papers, United Kingdom, Hedgehog signaling pathway, KIAA0586, 2734 Pathology and Forensic Medicine, Ciliopathy, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, 570 Life sciences, biology, Causal link, Neuroscience

وصف الملف: Bachmann_J_pathol_ZORA.pdf - application/pdf; path.5291.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a100374cfa14dcf373a90eb6f3ce325Test
https://doi.org/10.1002/path.5291Test

5

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

المؤلفون: Kathryn White, Charline Henry, Colin G. Miles, Shalabh Srivastava, Sophie Saunier, Andrew Filby, John A. Sayer, Elisa Molinari, Simon A. Ramsbottom, Sumaya Alkanderi

المصدر: Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Purmorphamine, Male, Cell Cycle Proteins, 0302 clinical medicine, Cerebellum, Eye Abnormalities, Sonic hedgehog, Child, Genetics (clinical), Polycystic Kidney Diseases, biology, Cilium, General Medicine, Articles, Kidney Diseases, Cystic, 3. Good health, Neoplasm Proteins, Pedigree, Child, Preschool, Signal Transduction, Morpholines, Primary Cell Culture, Joubert syndrome, Retina, 03 medical and health sciences, Cystic kidney disease, Nephronophthisis, Antigens, Neoplasm, Genetics, medicine, Roscovitine, Humans, Abnormalities, Multiple, Cilia, Molecular Biology, Cyclin-dependent kinase 5, Cyclin-Dependent Kinase 5, Epithelial Cells, medicine.disease, Ciliopathies, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, Purines, Mutation, Cancer research, biology.protein, Kidney Failure, Chronic, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5036495870f3b3b7ad9acaed87a7d22fTest
http://europepmc.org/articles/PMC5886250Test

6

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

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

7

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

المؤلفون: Frikstad, Kari-Anne M, Molinari, Elisa, Thoresen, Marianne, Ramsbottom, Simon A, Hughes, Frances, Letteboer, Stef J F, Gilani, Sania, Schink, Kay O, Stokke, Trond, Geimer, Stefan, Pedersen, Lotte B, Giles, Rachel H, Akhmanova, Anna, Roepman, Ronald, Sayer, John A, Patzke, Sebastian, Sub Cell Biology, Celbiologie

المساهمون: Sub Cell Biology, Celbiologie

المصدر: Cell Reports, 28, 1907-1922.e6
Cell Reports
Cell Reports, Vol 28, Iss 7, Pp 1907-1922.e6 (2019)
Frikstad, K-A M, Molinari, E, Thoresen, M, Ramsbottom, S A, Hughes, F, Letteboer, S J F, Gilani, S, Schink, K O, Stokke, T, Geimer, S, Pedersen, L B, Giles, R H, Akhmanova, A, Roepman, R, Sayer, J A & Patzke, S 2019, ' A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling ', Cell Reports, vol. 28, no. 7, pp. 1907-1922, e1-e6 . https://doi.org/10.1016/j.celrep.2019.07.025Test
Cell Reports, 28, 7, pp. 1907-1922.e6
Cell Reports, 28(7), 1907. Elsevier Saunders

مصطلحات موضوعية: 0301 basic medicine, Axoneme, animal structures, Hedgehog signaling, Cell Cycle Proteins, Retinal Pigment Epithelium, CEP104, General Biochemistry, Genetics and Molecular Biology, Joubert syndrome, Article, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, MT plus end, medicine, Animals, Humans, Hedgehog Proteins, Cilia, Ciliary tip, Zebrafish, Hedgehog, lcsh:QH301-705.5, CSPP1, Cells, Cultured, biology, Cilium, Zebrafish Proteins, medicine.disease, biology.organism_classification, Hedgehog signaling pathway, Ciliopathies, Cell biology, centriolar satellites, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, lcsh:Biology (General), Mutation, Smoothened, Microtubule-Associated Proteins, 030217 neurology & neurosurgery, primary cilium, Signal Transduction