نتائج البحث - "JOUBERT syndrome"

91

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

المؤلفون: Maryse Bonnière, Andrea Aguilar, Alice Meunier, Férechté Encha-Razavi, Jelena Martinovic, Tania Attié-Bitach, Nathalie Spassky, Laetitia Strehl

المصدر: Proceedings of the National Academy of Sciences. 109:16951-16956

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cerebellum, Cell Cycle Proteins, Biology, Retina, Statistics, Nonparametric, Joubert syndrome, Mice, Microscopy, Electron, Transmission, Antigens, Neoplasm, Cerebellar Diseases, medicine, Animals, Humans, Abnormalities, Multiple, Granulocyte Precursor Cells, Hedgehog Proteins, Eye Abnormalities, Sonic hedgehog, Meckel syndrome, In Situ Hybridization, Cell Proliferation, Encephalocele, Polycystic Kidney Diseases, Multidisciplinary, Cilium, Kidney Diseases, Cystic, Biological Sciences, medicine.disease, Immunohistochemistry, Hypoplasia, Neoplasm Proteins, Cytoskeletal Proteins, Ciliopathy, medicine.anatomical_structure, Microscopy, Fluorescence, Cerebellar vermis, biology.protein, RNA Interference, Retinitis Pigmentosa, Ciliary Motility Disorders, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a17f29e19212584ddbe46aa1b6e60c0Test
https://doi.org/10.1073/pnas.1201408109Test

92

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

المساهمون: Department of Molecular Biosciences, The University of Texas at Austin, Departement of human genetics [Los Angeles], Computer Science Department [Los Angeles] ( UCLA ), University of California at Los Angeles [Los Angeles] ( UCLA ) -University of California at Los Angeles [Los Angeles] ( UCLA ), David Geffen School of Medicine [Los Angeles], University of California at Los Angeles [Los Angeles] ( UCLA ), Department of Molecular Cellular and Developmental Biology, University of California at Los Angeles [Los Angeles] ( UCLA ) -Howard Hughes Medical Institute (HHMI), Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Department of Microbiology and Immunology, Stanford University School of Medicine, Division of Polar Earth-System Sciences, Korea Polar Research Institute ( KOPRI ), Howard Hughes Medical Institute [Chevy Chase] ( HHMI ), Howard Hugues Medical Institute, Centre de Génétique Humaine, Université de Liège-CHU Liège, Département de Génétique, CHU, Liège, KannerKlinik Pédiatrie générale, Centre Hospitalier de Luxembourg (CHL), Units of Pediatric Pulmonology, Universitair Ziekenhuis Brussel, Advanced Pediatric Center ( PGIMER ), Pediatry center, Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Kings College London Dental Institute, The State University of New York ( SUNY ), Lung GO Sequencing Project HL-102923 WHI Sequencing Project HL-102924 Broad GO Sequencing Project HL-102925 Seattle GO Sequencing Project HL-102926 Heart GO Sequencing Project HL-103010 NHGRI NHLBI 1U54 HG006493 HL117164 Uehara Memorial Foundation Fellowship NIDCR NRSA French Rare Diseases Foundation French Ministry of Health (PHRC national) Regional Council of Burgundy NIDDK DK1068306 NIAMS AR061485 BBSRC BB/K010492/1 MRC MR/L017237/1 NIH NSF CPRIT 2010-A01014-35Welch Foundation F-1515 March of Dimes R01 AR066124 Joseph Drown Foundation NIH/NCATS UCLA CTSI grant UL1TR000124 R01 AR062651 NIGMS GM114276 GM104853 Baxter Laboratory Stanford Department of Research, Clinical sciences, Growth and Development, Computer Science Department [Los Angeles] (UCLA), University of California [Los Angeles] (UCLA), University of California-University of California-University of California [Los Angeles] (UCLA), University of California-University of California, University of California-University of California-Howard Hughes Medical Institute (HHMI), Génétique des Anomalies du Développement (GAD), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Department of Microbiology and Immunology [Stanford], Stanford Medicine, Stanford University-Stanford University, Korea Polar Research Institute (KOPRI), Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre Hospitalier de Luxembourg [Luxembourg] (CHL), Advanced Pediatric Center (PGIMER), London Dental Institute (LDI), King‘s College London, State University of New York (SUNY), Toriyama, Michinori, Lee, Chanjae, Taylor, S. Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniella, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yanni, Faivre, Laurence, Rivière, Jean Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin Robinet, Christel, Krakow, Deborah, Jackson, Peter K, Wallingford, John B.

المصدر: Nature Genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (6), pp.648-656. 〈http://www.nature.com/ng/journal/v48/n6/full/ng.3558.htmlTest〉. 〈10.1038/ng.3558〉
Nature genetics
Nature Genetics, Nature Publishing Group, 2016, 48 (6), pp.648-656. ⟨10.1038/ng.3558⟩
Toriyama, M, Lee, C, Taylor, S P, Duran, I, Cohn, D H, Bruel, A L, Tabler, J M, Drew, K, Kelly, M R, Kim, S, Park, T J, Braun, D, Pierquin, G, Biver, A, Wagner, K, Malfroot, A, Panigrahi, I, Franco, B, Al-lami, H A, Yeung, Y, Choi, Y J, Duffourd, Y, Faivre, L, Rivière, J B, Chen, J, Liu, K J, Marcotte, E M, Hildebrandt, F, Thauvin-Robinet, C, Krakow, D, Jackson, P K & Wallingford, J B 2016, ' The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery ', Nature Genetics, vol. 48, no. 6, pp. 648-656 . https://doi.org/10.1038/ng.3558Test

مصطلحات موضوعية: 0301 basic medicine, Axoneme, primary ciliary dyskinesia, chlamydomonas flagella, planar cell polarity, Biology, Ciliopathies, Article, 03 medical and health sciences, Mice, Intraflagellar transport, Ciliogenesis, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, axonemal dyneins, medicine, Genetics, Basal body, Animals, Humans, tubulin transport, effector fuz, vesicle docking, embryonic-development, Cilium, Proteins, joubert syndrome, medicine.disease, Cell biology, Transport protein, Ciliopathy, Protein Transport, 030104 developmental biology, Phenotype, Flagella, Mutation, sense organs, ift-a complex, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Protein Binding

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::928387e2666bb11975957837c1cac7b1Test
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01409096Test

93

Update on oral-facial-digital syndromes (OFDS)

المؤلفون: Brunella Franco, Christel Thauvin-Robinet

المساهمون: TIGEM (Telethon Institute of Genetics and Medicine), Telethon Institute of Genetics and Medicine = Istituto Telethon di Genetica e Medicina (TIGEM), Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Italian Fondazione Telethon [TGM11CB3 to BF]., Franco, Brunella, Thauvin Robinet, Christel

المصدر: Cilia
Cilia, BioMed Central, 2016, 5 (12), ⟨10.1186/s13630-016-0034-4⟩

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7127f4db737b96ce497d996b3f97a9Test
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01549073Test

94

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

المؤلفون: Andrew R. Cullinane, Nisc Comparative Sequencing Program, Deniz Yildirimli, Joy Bryant, Peter J. Steinbach, Joseph C. Roney, Thierry Vilboux, Meral Gunay-Aygun, Meghana Vemulapalli, May Christine V. Malicdan, Joshi Stephen, Roxanne Fischer, William A. Gahl, James C. Mullikin

المصدر: Am J Med Genet A

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e7655d34e41c21a85974f6f07fe239eTest
https://pubmed.ncbi.nlm.nih.gov/28052552Test

95

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

المؤلفون: Julie Kennedy, Chunmei Li, Marta Romani, Enza Maria Valente, Victor L. Jensen, Jean Baptiste Rivière, Michel R. Leroux, Jeremy F. Reiter, Estelle Lopez, Kwangjin Park, Francesc R. Garcia-Gonzalo, Laurence Faivre, Bérénice Doray, Oliver E. Blacque, Christel Thauvin-Robinet, Roberta De Mori, Ange Line Bruel, Dominique Gaillard

المساهمون: Department of Molecular Biology and Biochemistry ( MBB ), Simon Fraser University ( SFU.ca ), School of Biology & Environmental Science and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, University College Dublin [Dublin] ( UCD ), Cardiovascular Research Institute ( CVRI ), Univerisity of California ( UCSF ), IRCCS 'Casa Sollievo della Sofferenza', Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Service de Génétique, Centre Hospitalier Universitaire de Reims ( CHU Reims ) -Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne ( URCA ) -Université de Reims Champagne-Ardenne ( URCA ), Service de Génétique Médicale, Hôpital Civil, Strasbourg, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), voestalpine Stahl Donawitz GmbH, Department of Biochemistry & Biophysics, University of California [San Francisco] ( UCSF ), Canadian Institutes of Health Research (CIHR) MOP 142243 March of Dimes Michael Smith Foundation for Health Research (MSFHR) European Research Council (ERC) 260888 Telethon Foundation Italy GGP13146 Science Foundation Ireland SFI-111037 European Community's Seventh Framework Programme (SYSCILIA) 241955 NIH AR054396 GM095941 Burroughs Wellcome Fund Packard Foundation Sandler Family Supporting Foundation GIS-Institut des Maladies Rares French Fondation for Rare Disease French Ministry of Health (PHRC) 2010-A01014-35 Regional Council of Burgundy Vanier Canada Graduate Scholarship MSFHR postdoctoral fellowship KRESCENT postdoctoral fellowship, Department of Molecular Biology and Biochemistry (MBB), Simon Fraser University (SFU.ca), University College Dublin [Dublin] (UCD), Cardiovascular Research Institute (CVRI), University of California [San Francisco] (UCSF), University of California-University of California, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)

المصدر: PLoS Biology
PLoS Biology, Public Library of Science, 2016, 14 (3), 〈http://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.1002416Test〉. 〈10.1371/journal.pbio.1002416〉
PLoS Biology, Public Library of Science, 2016, 14 (3), ⟨10.1371/journal.pbio.1002416⟩
PLoS Biology, Vol 14, Iss 3, p e1002416 (2016)

مصطلحات موضوعية: 0301 basic medicine, Nematoda, Cell Membranes, Peripheral Membrane Proteins, Gene Identification and Analysis, syndrome type vi, Animal Cells, Medicine and Health Sciences, Biology (General), Caenorhabditis elegans, Connective Tissue Cells, Genetics, biology, General Neuroscience, Cilium, Ciliary transition zone, joubert syndrome, Animal Models, Orofaciodigital Syndromes, Cyclin-Dependent Kinases, 3. Good health, Cell biology, Phenotypes, Connective Tissue, RPGRIP1L, c-elegans, flagella, Cellular Structures and Organelles, Cellular Types, Anatomy, General Agricultural and Biological Sciences, Microtubule-Associated Proteins, primary cilium, Research Article, Microtubule-associated protein, QH301-705.5, Molecular Sequence Data, Research and Analysis Methods, General Biochemistry, Genetics and Molecular Biology, meckel syndrome, 03 medical and health sciences, Model Organisms, Intraflagellar transport, Ciliogenesis, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Animals, Humans, Cilia, Amino Acid Sequence, Caenorhabditis elegans Proteins, Mutation Detection, intraflagellar transport, General Immunology and Microbiology, Organisms, Biology and Life Sciences, Membrane Proteins, Cell Biology, Fibroblasts, biology.organism_classification, Invertebrates, caenorhabditis-elegans, 030104 developmental biology, Biological Tissue, Membrane protein, Genetic Interactions, membrane-proteins, Caenorhabditis, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, ciliogenesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e12deacabe60b57c77cc2f8fa881ceTest
http://europepmc.org/articles/PMC4794247Test

96

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

المساهمون: School of Biology & Environmental Science and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, University College Dublin [Dublin] ( UCD ), Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Radboud University Medical Center [Nijmegen], Leeds Institute of Biomedical & Clinical Sciences ( LIBACS ), University of Leeds, University Medical Center [Utrecht], Service de neuropédiatrie et pathologie du développement, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Service de Génétique et d'Embryologie Médicale, Service de neuropédiatrie [Trousseau], CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Proteome Research Centre, UCD Conway Institute for Biomolecular and Biomedical Research, European Community's Seventh Framework Programme 241955 Science Foundation Ireland 11/PI/1037 Dutch Kidney Foundation CP11.18 GIS-Institut des Maladies Rares French Fondation for Rare Disease Virgo consortium FE50908 Netherlands Genomics Initiative 050-060-452 French Ministry of Health (PHRC national) 2010-A01014-35 Fondation pour la Recherche Medicale DEQ20130326532 Regional Council of Burgundy Sir Jules Thorn Award for Biomedical Research JTA/09 UK Medical Research Council MR/K011154/1 MR1K015613/1 Lung GO Sequencing Project HL-102923 WHI Sequencing Project HL-102924 Broad GO Sequencing Project HL-102925 Seattle GO Sequencing Project HL-102926 Heart GO Sequencing Project HL-103010 University of Leeds, University College Dublin [Dublin] (UCD), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Leeds Institute of Biomedical & Clinical Sciences (LIBACS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Nature Cell Biology, 18, 122-31
Nature Cell Biology
Nature Cell Biology, Nature Publishing Group, 2016, 18 (1), pp.122-131. 〈10.1038/ncb3273〉
Nature Cell Biology, Nature Publishing Group, 2016, 18 (1), pp.122-131. ⟨10.1038/ncb3273⟩
Nature Cell Biology, 18, 1, pp. 122-31

مصطلحات موضوعية: 0301 basic medicine, Biology, Research Support, nephrocystins, Joubert syndrome, Retina, Article, 03 medical and health sciences, Nephronophthisis, Ciliogenesis, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Cerebellum, evolution, medicine, Journal Article, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Non-U.S. Gov't, membrane, Cilium, c. elegans, Research Support, Non-U.S. Gov't, Ciliary transition zone, Membrane Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Cell Biology, Kidney Diseases, Cystic, medicine.disease, mutations, Cell biology, Ciliopathy, caenorhabditis-elegans, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Membrane protein, transport, Ciliary base, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, complex, ciliogenesis, primary cilium