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: Xingshun Xu, Siyi Gong, Bin Wang, Yingying Zhang, Feng Ji, Miao Sun

المصدر: Cellular Physiology and Biochemistry, Vol 50, Iss 1, Pp 398-409 (2018)

مصطلحات موضوعية: 0301 basic medicine, Physiology, Ciliopathies, lcsh:Physiology, Joubert syndrome, lcsh:Biochemistry, 03 medical and health sciences, Tectonic proteins, Ciliogenesis, GLI3, medicine, Humans, lcsh:QD415-436, Hedgehog Proteins, Cilia, Protein Interaction Maps, Sonic hedgehog, Ciliary membrane, Sonic Hedgehog signaling pathway, lcsh:QP1-981, biology, Cilium, Membrane Proteins, medicine.disease, Cell biology, 030104 developmental biology, biology.protein, Signal transduction, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac2ae2a561cbd855207839db60d936fTest
https://doi.org/10.1159/000494017Test

المؤلفون: Kasey J. Christopher, Michaela Kavkova, Marie Landová, Natalia A. Shylo, Jozef Kaiser, Tomáš Zikmund, Marcela Buchtová, Marek Hampl, Scott D. Weatherbee, Petra Celá

مصطلحات موضوعية: 0301 basic medicine, Cleft Lip, 030105 genetics & heredity, Exencephaly, Biology, Microphthalmia, Ciliopathies, Joubert syndrome, Facial Bones, Craniofacial Abnormalities, 03 medical and health sciences, Mice, medicine, Animals, Cilia, Neural Tube Defects, Maxillofacial Development, General Dentistry, SOX Transcription Factors, Mice, Knockout, Palate, Cilium, Skull, Neural crest, Membrane Proteins, Research Reports, Anatomy, medicine.disease, Cell biology, Ciliopathy, 030104 developmental biology, Secondary palate

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0af78eac0fb8092cbe0fbbc7dc8cf339Test
https://europepmc.org/articles/PMC5755812Test/

المؤلفون: Richard T. Pon, Ryan E. Lamont, Uwe Wolfrum, Robert A. Hegele, Dan Doherty, Fiona Stewart, Martin McKibbin, Jay Shendure, Grischa Toedt, Colin E. Willoughby, Jillian S. Parboosingh, Clem Donahue, Kirsten A. Wunderlich, Lijia Huang, Marius Ueffing, Hannah M. Mitchison, Nasrin Sorusch, Teunis J. P. van Dam, Zakia Abdelhamed, Kym M. Boycott, Francois P. Bernier, Mohammed A. Aldahmesh, Subaashini Natarajan, Bernard N. Chodirker, Carole Ober, Julie Higgins, Matthew Adams, Darren C. Tomlinson, Hilary E. Racher, Thanh Minh T. Nguyen, Ian G. Phelps, Andreas Giessl, Katarzyna Szymanska, Ewan E. Morrison, Albert E. Chudley, Fowzan S. Alkuraya, Panagiotis I. Sergouniotis, Patrick Frosk, Jacquelyn Bond, Miriam Schmidts, Susanne Roosing, Nicola Horn, Gabrielle Wheway, Sandra M. Bell, Carmel Toomes, Toby J. Gibson, Martijn A. Huynen, Philip L. Beales, Gisela G. Slaats, Julie Kennedy, Clare V. Logan, Oliver E. Blacque, Paul M. K. Gordon, Rachel H. Giles, Heymut Omran, Aizeddin A. Mhanni, A. James Barkovich, David A. Parry, A. Micheil Innes, Dorus A. Mans, Jeroen van Reeuwijk, Kristin Kessler, Louis Wolf, Shamsa Anazi, Evan A. Boyle, Karsten Boldt, Ronald Roepman, Joseph G. Gleeson, Andrew R. Webster, Selwa A. Al Hazzaa, Chris F. Inglehearn, Warren Herridge, Christian Thiel, Chandree L. Beaulieu, Colin A. Johnson, Stef J.F. Letteboer

المصدر: Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group

مصطلحات موضوعية: PRPF31, Pregnancy Proteins, Inbred C57BL, Ciliopathies, Mice, Immunologic, Cerebellum, Databases, Genetic, Eye Abnormalities, Non-U.S. Gov't, Zebrafish, Exome sequencing, Mice, Knockout, Genetics, Research Support, Non-U.S. Gov't, Cilium, High-Throughput Nucleotide Sequencing, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Kidney Diseases, Cystic, Phenotype, Kidney Diseases, RNA Interference, Abnormalities, Multiple, Functional genomics, Ciliary Motility Disorders, Genetic Markers, Ellis-Van Creveld Syndrome, Knockout, Jeune syndrome, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Transfection, Retina, Article, whole-genome siRNA screen, Joubert syndrome, N.I.H, Databases, Cystic, reverse genetics, Research Support, N.I.H., Extramural, Genetic, Cerebellar Diseases, Ciliogenesis, Suppressor Factors, Journal Article, Suppressor Factors, Immunologic, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Photoreceptor Cells, Cilia, Genetic Testing, Caenorhabditis elegans, Extramural, Membrane Proteins, Proteins, Reproducibility of Results, Cell Biology, medicine.disease, Mice, Inbred C57BL, Cytoskeletal Proteins, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], HEK293 Cells, Mutation, ciliopathies, Genome-Wide Association Study

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f0b712fcab169cef607b95c1a1e715Test
https://doi.org/10.1038/ncb3201Test

المؤلفون: S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi

المساهمون: IANNICELLI M, BRANCATI F, MOUGOU-ZERELLI S, MAZZOTTA A, THOMAS S, ELKHARTOUFI N, TRAVAGLINI L, GOMES C, ARDISSINO GL, BERTINI E, BOLTSHAUSER E, CASTORINA P, D'ARRIGO S, FISCHETTO R, LEROY B, LOGET P, BONNIÈRE M, STARCK L, TANTAU J, GENTILIN B, MAJORE S, SWISTUN D, FLORI E, LALATTA F, PANTALEONI C, PENZIEN J, GRAMMATICO P, INTERNATIONAL JSRD STUDY GROUP, DALLAPICCOLA B, GLEESON JG, ATTIE-BITACH T, VALENTE EM. COLLABORATORS: ALI PACHA L, TAZIR M, ZANKL A, LEVENTER R, GRATTAN-SMITH P, JANECKE A, D'HOOGHE M, SZNAJER Y, VAN COSTER R, DEMERLEIR L, DIAS K, MOCO C, MOREIRA A, AE KIM C, MAEGAWA G, LONCAREVIC D, MEJASKI-BOSNJAK V, PETKOVIC D, ABDEL-SALAM GM, ABDEL-ALEEM A, ZAKI MS, MARTI I, QUIJANO-ROY S, SIGAUDY S, DE LONLAY P, ROMANO S, VERLOES A, TOURAINE R, KOENIG M, LAGIER-TOURENNE C, MESSER J, COLLIGNON P, WOLF N, PHILIPPI H, LEMKE J, DACOU-VOUTETAKIS C, KITSIOU TZELI S, PONS R, SZTRIHA L, HALLDORSSON S, JOHANNSDOTTIR J, LUDVIGSSON P, PHADKE SR, UDANI V, STUART B, MAGEE A, LEV D, MICHELSON M, BEN-ZEEV B, DI GIACOMO M, GENTILE M, GUANTI G, D'ADDATO O, PAPADIA F, SPANO M, BERNARDI F, SERI M, BENEDICENTI F, STANZIAL F, BORGATTI R, ACCORSI P, BATTAGLIA S, FAZZI E, GIORDANO L, IZZI C, PINELLI L, BOCCONE L, GUANCIALI P, ROMOLI R, BIGONI S, FERLINI A, ANDREUCCI E, DONATI MA, GENUARDI M, CARIDI G, DIVIZIA MT, FARAVELLI F, GHIGGERI G, PESSAGNO, AMORINI M, BRIGUGLIO M, BRIUGLIA S, RIGOLI L, SALPIETRO C, TORTORELLA G, ADAMI A, MARRA G, RIVA D, SCELSA B, SPACCINI L, UZIEL G, COPPOLA G, DEL GIUDICE E, VITIELLO G, LAVERDA AM, LUDWIG K, PERMUNIAN A, SUPPIEJ A, MACALUSO C, SIGNORINI S, UGGETTI C, BATTINI R, PRIOLO M, CILIO MR, D'AMICO A, DI SABATO ML, EMMA F, LEUZZI V, PARISI P, STRINGINI G, ZANNI G, POLLAZZON M, RENIERI A, VASCOTTO M, SILENGO M, DE VESCOVI R, GRECO D, ROMANO C, CAZZAGON M, SIMONATI A, AL-TAWARI AA, BASTAKI L, MÉGARBANÉ A, MATULEVICIENE A, SABOLIC AVRAMOVSKA V, SAID E, DE JONG MM, PRESCOTT T, STROMME P, VON DER LIPPE C, KOUL R, RAJAB A, AZAM M, BARBOT C, JOCIC-JAKUBI B, GENER QUEROL B, MARTORELL SAMPOL L, RODRIGUEZ B, PASCUAL-CASTROVIEJO I, STROZZI S, FLUSS J, TEBER S, TOPCU M, ANLAR B, COMU S, KARACA E, KAYSERILI H, YÜKSEL A, AKGUL M, AKCAKUS M, AL GAZALI L, NICHOLL D, WOODS CG, BENNETT C, HURST J, SHERIDAN E, BARNICOAT A, CARR L, HENNEKAM R, LEES M, MCKAY F, YATES L, BLAIR E, BERNES S, SANCHEZ H, CLARK AE, DEMARCO E, DONAHUE C, SHERR E, HAHN J, SANGER TD, GALLAGER TE, DOBYNS WB, DAUGHERTY C, KRISHNAMOORTHY KS, SARCO D, WALSH CA, MCKANNA T, MILISA J, CJUNG WK, DE VIVO DC, RAYNES H, SCHUBERT R, SEWARD A, BROOKS DG, GOLDSTEIN A, CALDWELL J, FINSECKE E, MARIA BL, HOLDEN K, CRUSE RP, SWOBODA KJ, VISKOCHIL D., Pediatric surgery, NCA - Childhood White Matter Diseases, Iannicelli, M, Brancati, F, Mougou Zerelli, S, Mazzotta, A, Thomas, S, Elkhartoufi, N, Travaglini, L, Gomes, C, Ardissino, Gl, Bertini, E, Boltshauser, E, Castorina, P, D'Arrigo, S, Fischetto, R, Leroy, B, Loget, P, Bonnière, M, Starck, L, Tantau, J, Gentilin, B, Majore, S, Swistun, D, Flori, E, Lalatta, F, Pantaleoni, C, Penzien, J, Grammatico, P, Dallapiccola, B, Gleeson, Jg, Attie Bitach, T, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio, University of Zurich, Attie-Bitach, T

المصدر: International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239Test
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.

مصطلحات موضوعية: Liver Cirrhosis, 2716 Genetics (clinical), meckelin, Ciliopathies, Joubert syndrome, Genotype, congenital hepatic fibrosis, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67, TMEM67, Meckel syndrome, DNA Mutational Analysis, 610 Medicine & health, Biology, medicine.disease_cause, MKS3, COACH syndrome, Article, NO, 1311 Genetics, Nephronophthisis, Pregnancy, Prenatal Diagnosis, Genetics, medicine, COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67, Missense mutation, Humans, Abnormalities, Multiple, Genetics (clinical), Mutation, Cilium, Membrane Proteins, Kidney Diseases, Cystic, medicine.disease, Phenotype, 10036 Medical Clinic, Female

وصف الملف: ELETTRONICO; IannicelliM,_2010.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcfTest
https://doi.org/10.1002/humu.21239Test

المؤلفون: Amanda C. Leightner, Peter C. Harris, Cynthia J. Hommerding, Vladimir G. Gainullin, Ying Peng, Jeffrey L. Salisbury, Caroline R. Sussman, Peter G. Czarnecki

المصدر: Human Molecular Genetics. 22:2024-2040

مصطلحات موضوعية: medicine.medical_specialty, TMEM67, Biology, Ciliopathies, Retina, Joubert syndrome, Mice, Cerebellar Diseases, Cerebellum, Internal medicine, Ciliogenesis, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Meckel syndrome, Wnt Signaling Pathway, Molecular Biology, Zebrafish, Genetics (clinical), Encephalocele, Polycystic Kidney Diseases, Cilium, Wnt signaling pathway, Cell Polarity, Membrane Proteins, Articles, General Medicine, Kidney Diseases, Cystic, Zebrafish Proteins, medicine.disease, Mice, Mutant Strains, Cochlea, Cell biology, Disease Models, Animal, Ciliopathy, HEK293 Cells, Endocrinology, Retinitis Pigmentosa, Ciliary Motility Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45df456fc7e275d80de5edb795055f3aTest
https://doi.org/10.1093/hmg/ddt054Test

المؤلفون: Colin A. Johnson, Katarzyna Szymanska, Carmel Toomes, Zakia Abdelhamed, Chris F. Inglehearn, Gabrielle Wheway, Subaashini Natarajan

المصدر: Human Molecular Genetics; Vol 22

مصطلحات موضوعية: TMEM67, Dishevelled Proteins, Exencephaly, Ciliopathies, Mice, 0302 clinical medicine, Genes, Reporter, Luciferases, Firefly, Cerebellum, Eye Abnormalities, Neural Tube Defects, Wnt Signaling Pathway, Genetics (clinical), Encephalocele, Genetics, Mice, Knockout, 0303 health sciences, Polycystic Kidney Diseases, Cilium, Ciliary transition zone, General Medicine, Articles, Kidney Diseases, Cystic, Protein Transport, Phenotype, Retinitis Pigmentosa, Ciliary Motility Disorders, Mice, 129 Strain, Biology, Joubert syndrome, Retina, 03 medical and health sciences, Cerebellar Diseases, Ciliogenesis, medicine, Animals, Humans, Abnormalities, Multiple, Hedgehog Proteins, Cilia, Molecular Biology, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Body Patterning, urogenital system, Membrane Proteins, medicine.disease, Phosphoproteins, Mice, Inbred C57BL, Ciliopathy, Disease Models, Animal, HEK293 Cells, Gene Expression Regulation, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc46991c9d11e4735aab69fea4f5cfe4Test

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

المؤلفون: Michelle Peckham, Karl Gaff, Alistair Curd, Martijn A. Huynen, Oliver E. Blacque, Ka Man Wu, Colin A. Johnson, Laurence Faivre, Rachel H. Giles, Diane Doummar, Nils J. Lambacher, Tania Attié-Bitach, Lydie Burglen, Gisela G. Slaats, Christel Thauvin-Robinet, Ange-Line Bruel, Gavin J. McManus, Katarzyna Szymanska, Sophie Saunier, Julie Kennedy, Teunis J. P. van Dam, Robin van der Lee, Jean-Baptiste Rivière, Stefanie Kuhns

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

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5843950ab0be0a0ffe94ae9a58df2d06Test
https://dspace.library.uu.nl/handle/1874/332912Test

المؤلفون: Dai Shiba, Takahiko Yokoyama

المصدر: Differentiation. 83:S91-S96

مصطلحات موضوعية: Cancer Research, Biology, Ciliopathies, Joubert syndrome, Evolution, Molecular, medicine, Animals, Humans, Basal body, Cilia, Caenorhabditis elegans, Ciliary tip, Molecular Biology, Ciliary membrane, Adaptor Proteins, Signal Transducing, Genetics, Cilium, Membrane Proteins, Cell Biology, medicine.disease, Cell biology, Cytoskeletal Proteins, Ciliopathy, Ciliary base, Chlamydomonas reinhardtii, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8c8f5028324e265175b4099d7a3da2Test
https://doi.org/10.1016/j.diff.2011.11.006Test