المؤلفون: Yujuan Wang, Yuan Zhang, Xinyu Guo, Yiqiang Zheng, Xinjie Zhang, Shanshan Feng, Hui-Yuan Wu

المصدر: BMC Biology, Vol 21, Iss 1, Pp 1-20 (2023)

مصطلحات موضوعية: CCP5, CCP6, Polyglutamylation, Ciliogenesis, CP110, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1741-7007Test

الوصول الحر: https://doaj.org/article/a5e9c2095bb748a4bb7c83c72d6e737dTest

المؤلفون: Madeline Otto, Sigrid Hoyer-Fender

المصدر: Cells, Vol 12, Iss 17, p 2194 (2023)

مصطلحات موضوعية: ODF2, CP110, NEURL4, HYLS1, ciliation, rapamycin-induced targeting, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4409/12/17/2194Test; https://doaj.org/toc/2073-4409Test

الوصول الحر: https://doaj.org/article/2823772780504c38af2274730a74a6d5Test

المؤلفون: Cayla E Jewett, Bailey L McCurdy, Eileen T O'Toole, Alexander J Stemm-Wolf, Katherine S Given, Carrie H Lin, Valerie Olsen, Whitney Martin, Laura Reinholdt, Joaquín M Espinosa, Kelly D Sullivan, Wendy B Macklin, Rytis Prekeris, Chad G Pearson

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: pericentrin, primary cilia, trisomy 21, Down syndrome, MyosinVA, CP110, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/78202Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/603a4f2550174b548dd163691ee11a05Test

المؤلفون: Reilly, Madeline Louise, ul Ain, Noor, Muurinen, Mari, Tata, Alice, Huber, Celine, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Hogler, Wolfgang, Knapen, Maarten F. C. M., van den Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier-Daire, Valerie, Benmerah, Alexandre, Mäkitie, Outi

المساهمون: CAMM - Research Program for Clinical and Molecular Metabolism, Children's Hospital, University of Helsinki, HUS Children and Adolescents, Clinicum, Lastentautien yksikkö

مصطلحات موضوعية: ACROMESOMELIC DYSPLASIA, SKELETAL DYSPLASIA, PRIMARY CILIA, CILIOPATHIES, KINESIN, MUTATIONS, CP110, CILIA, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: NA was supported by International Research Support Program (IRSIP) provided by HEC, Pakistan. SN was supported by Koshish foundation USA and Pakistan Science Foundation. AB and SS were supported by grants from the Agence Nationale de la Recherche (ANR), including the "Investissements d'Avenir" program (ANR-10-IAHU-01) and the "RHU-C'IL-LICO" as part of the second "Investissements d'Avenir" program (reference: ANR17-RHUS-0002). MLR and AT were supported by fellowships from "Universite Paris Diderot" and from European Commission Horizon 2020 research and innovation programme Marie Sklodowska-Curie Innovative Training Networks (grant number: 861329). OM was supported by Sigrid Juselius Foundation, Swedish Research Council, Academy of Finland, Novo Nordisk Foundation, Folkhalsan Research Foundation and Stockholm County Council. We thank the families for participating in the present study. We acknowledge the generous gift of KIF24 and CP110 encoding plasmids from Brian Dynalcht.; Reilly , M L , ul Ain , N , Muurinen , M , Tata , A , Huber , C , Simon , M , Ishaq , T , Shaw , N , Rusanen , S , Pekkinen , M , Hogler , W , Knapen , M F C M , van den Born , M , Saunier , S , Naz , S , Cormier-Daire , V , Benmerah , A & Mäkitie , O 2022 , ' Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia ' , Journal of Bone and Mineral Research , vol. 37 , no. 9 , pp. 1642-1652 . https://doi.org/10.1002/jbmr.4639Test; ORCID: /0000-0002-4547-001X/work/155651734; http://hdl.handle.net/10138/353553Test; 5fb2834c-0555-48a1-abea-5dc5ddd3edb9; 000827290900001

الإتاحة: http://hdl.handle.net/10138/353553Test

المؤلفون: André Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, Sebastian Patzke, Pernille Martens, Signe Krogh Ohlsen, Mathieu Quinodoz, Konstantinos Nikopoulos, Reem Suleiman, Magnus Per Damsø Jeppesen, Catja Weiss, Søren Tvorup Christensen, Carlo Rivolta, Jens S Andersen, Pietro Farinelli, Lotte Bang Pedersen

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: cilia, centrosome, CEP78, CEP350, CP110, ubiquitin, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/63731Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/4d5f5e4294184f34b50a9cda61e1c689Test

المؤلفون: Bijnsdorp, Irene V., Hodzic, Jasmina, Lagerweij, Tonny, Westerman, Bart, Krijgsman, Oscar, Broeke, Jurjen, Verweij, Frederik, Nilsson, R. Jonas A., Rozendaal, Lawrence, van Beusechem, Victor W., van Moorselaar, Jeroen A., Wurdinger, Thomas, Geldof, Albert A.

المصدر: Oncotarget. 7(13):16676-16687

مصطلحات موضوعية: prostate cancer, centrosome, CP110, miR-129-3p, metastasis

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-121485Test
https://doi.org/10.18632/oncotarget.7572Test
https://umu.diva-portal.org/smash/get/diva2:938896/FULLTEXT01.pdfTest

المؤلفون: Madeline Louise Reilly, Noor ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F. C. M. Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier‐Daire, Alexandre Benmerah, Outi Makitie

المساهمون: Obstetrics & Gynecology, Clinical Genetics, Laboratoire des Maladies Rénales Héréditaires, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of the Punjab, Karolinska Institutet [Stockholm], Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University Medical Center [Utrecht], University of Birmingham [Birmingham], Johannes Kepler University Linz [Linz] (JKU), Erasmus University Medical Center [Rotterdam] (Erasmus MC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Benmerah, Alexandre, CAMM - Research Program for Clinical and Molecular Metabolism, Children's Hospital, University of Helsinki, HUS Children and Adolescents, Clinicum, Lastentautien yksikkö

المصدر: Journal of Bone and Mineral Research, 37(9), 1642-1652. Wiley-Blackwell
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩

مصطلحات موضوعية: [SDV.MHEP.RSOA] Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, MUTATIONS, Endocrinology, Diabetes and Metabolism, Dwarfism, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Osteochondrodysplasias, kinesin, Pedigree, Phenotype, primary cilia, [SDV.MHEP.RSOA]Life Sciences [q-bio]/Human health and pathology/Rhumatology and musculoskeletal system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, SDG 3 - Good Health and Well-being, CILIA, 3121 General medicine, internal medicine and other clinical medicine, Mutation, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Skeletal dysplasia, Animals, Humans, CP110, ciliopathies, Orthopedics and Sports Medicine, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Acromesomelic dysplasia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391d9729cccdcc2a8252045af6208125Test
https://doi.org/10.1002/jbmr.4639Test

المؤلفون: Jennifer Jones, Paul M. Macdonald

المصدر: Biology Open, Vol 4, Iss 8, Pp 937-946 (2015)

مصطلحات موضوعية: Primordial germ cells, Neurl4, CP110, Oskar, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://bio.biologists.org/content/4/8/937Test; https://doaj.org/toc/2046-6390Test

الوصول الحر: https://doaj.org/article/1571705befa2421096a1a9aa218f57d8Test

المؤلفون: Al-Jassar, C, Andreeva, A, Barnabas, DD, McLaughlin, SH, Johnson, CM, Yu, M, van Breugel, M

مصطلحات موضوعية: CP110, Cep104, Nek1, TOG, basal body, centriole, cilia, tubulin, zinc finger, Binding Sites, Cell Cycle Proteins, Crystallography, X-Ray, Humans, Microtubule-Associated Proteins, Models, Molecular, NIMA-Related Kinase 1, Phosphoproteins, Protein Binding, Protein Structure, Secondary, Zinc Fingers

وصف الملف: 146 - 156

العلاقة: Structure; https://qmro.qmul.ac.uk/xmlui/handle/123456789/67739Test

الإتاحة: https://doi.org/10.1016/j.str.2016.11.014Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/67739Test

المؤلفون: Jens S. Andersen, Mathieu Quinodoz, Reem Suleiman, Pernille Martens, Konstantinos Nikopoulos, André Brás Gonçalves, Pietro Farinelli, Carlo Rivolta, Catja Weiss, Sebastian Patzke, Beinta Biskopstø Joensen, Lotte B. Pedersen, Magnus Per Damsø Jeppesen, Sarah Kirstine Hasselbalch, Søren T. Christensen, Signe Krogh Ohlsen

المصدر: Gonçalves, A B, Hasselbalch, S K, Joensen, B B, Patzke, S, Martens, P, Ohlsen, S K, Quinodoz, M, Nikopoulos, K, Suleiman, R, Jeppesen, M P D, Weiss, C, Christensen, S T, Rivolta, C, Andersen, J S, Farinelli, P & Pedersen, L B 2021, ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ', eLife, vol. 10, e63731 . https://doi.org/10.7554/eLife.63731Test
eLife
eLife, Vol 10 (2021)
Gonçalves, A B, Hasselbalch, S K, Joensen, B B, Patzke, S, Martens, P, Ohlsen, S K, Quinodoz, M, Nikopoulos, K, Suleiman, R, Jeppesen, M P D, Weiss, C, Christensen, S T, Rivolta, C, Andersen, J S, Farinelli, P & Pedersen, L B 2021, ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ', eLife, vol. 10, e63731 . https://doi.org/10.7554/elife.63731Test

مصطلحات موضوعية: QH301-705.5, Science, Cell Cycle Proteins, Biology, medicine.disease_cause, Interactome, General Biochemistry, Genetics and Molecular Biology, Gene Knockout Techniques, Ubiquitin, Ciliogenesis, ubiquitin, medicine, CEP78, Humans, CP110, Biology (General), Mutation, General Immunology and Microbiology, General Neuroscience, Cilium, cilia, Ubiquitination, Nuclear Proteins, Cell Biology, General Medicine, Phosphoproteins, Cell biology, Ubiquitin ligase, centrosome, CEP350, Centrosome, Microtubule Proteins, biology.protein, Medicine, Microtubule-Associated Proteins, Biogenesis, Research Article, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3a7d2563e61fcb57025b1d22c78b416Test
https://findresearcher.sdu.dk:8443/ws/files/185246823/elife_63731_v2.pdfTest