المؤلفون: Jayarajan, Roopasree O.^1,2 (AUTHOR), Chakraborty, Soura³ (AUTHOR), Raghu, Kozhiparambil Gopalan^1,2 (AUTHOR), Purushothaman, Jayamurthy^1,2 (AUTHOR), Veleri, Shobi⁴ (AUTHOR) shobi.veleri@icmr.gov.in

المصدر: Experimental Brain Research. Mar2024, Vol. 242 Issue 3, p619-637. 19p.

مصطلحات موضوعية: *JOUBERT syndrome, *CELL communication, *CILIA & ciliary motion, *GENE ontology, *CELL physiology, *GENE expression profiling

المؤلفون: Faber, Siebren¹ (AUTHOR), Letteboer, Stef J. F.¹ (AUTHOR), Junger, Katrin² (AUTHOR), Butcher, Rossano³ (AUTHOR), Tammana, Trinadh V. Satish¹ (AUTHOR), van Beersum, Sylvia E. C.¹ (AUTHOR), Ueffing, Marius² (AUTHOR), Collin, Rob W. J.⁴ (AUTHOR), Liu, Qin³ (AUTHOR), Boldt, Karsten² (AUTHOR), Roepman, Ronald¹ (AUTHOR) ronald.roepman@radboudumc.nl

المصدر: Cells (2073-4409). Jan2023, Vol. 12 Issue 2, p312. 22p.

مصطلحات موضوعية: *JOUBERT syndrome, *CILIA & ciliary motion, *PROTEINS, *RETINAL degeneration, *EXTRACELLULAR vesicles, *UBIQUITINATION

المؤلفون: Mancuso, Alessio, Ceravolo, Ida, Cuppari, Caterina, Sallemi, Alessia, Fusco, Monica, Ceravolo, Antonio, Farello, Giovanni, Iapadre, Giulia, Zagaroli, Luca, Nanni, Giuliana, Conti, Giovanni

المصدر: Journal of Pediatric Neurology; 2023, Vol. 21 Issue 1, p78-84, 7p

مصطلحات موضوعية: PROTEIN metabolism, PROTEINS, NEURONS, CELL physiology, CELLULAR signal transduction, CILIOPATHY, JOUBERT syndrome, PHENOTYPES, DISEASE risk factors

المؤلفون: Itoh, Masayuki¹ itoh@ncnp.go.jp, Ide, Shuhei², Iwasaki, Yuji², Saito, Takashi¹, Narita, Keishi³, Dai, Hongmei¹, Yamakura, Shinji⁴, Furue, Takeki⁵, Kitayama, Hirotsugu⁶, Maeda, Keiko⁷, Takahashi, Eihiko⁸, Matsui, Kiyoshi⁹, Goto, Yu-ichi¹, Takeda, Sen³, Arima, Masataka²

المصدر: Brain & Development. Apr2018, Vol. 40 Issue 4, p259-267. 9p.

مصطلحات موضوعية: *JOUBERT syndrome, *PHENOTYPES, *NUCLEOTIDE sequencing, *FIBROBLASTS, *CENTROSOMES, *CILIA & ciliary motion, *GENETICS

المؤلفون: Kösling, Stefanie Kristine¹, Fansa, Eyad Kalawy¹, Maffini, Stefano² stefano.maffini@mpi-dortmund.mpg.de, Wittinghofer, Alfred¹ alfred.wittinghofer@mpi-dortmund.mpg.de

المصدر: Biological Chemistry. Mar2018, Vol. 399 Issue 3, p277-292. 16p. 6 Diagrams.

مصطلحات موضوعية: *CILIARY body, *JOUBERT syndrome, *CELL compartmentation, *INOSITOL polyphosphate phosphatase, *ADP-ribosylation factors, *PHOSPHODIESTERASES

المؤلفون: Alessio Mancuso, Ida Ceravolo, Caterina Cuppari, Alessia Sallemi, Monica Fusco, Antonio Ceravolo, Giovanni Farello, Giulia Iapadre, Luca Zagaroli, Giuliana Nanni, Giovanni Conti

المصدر: Journal of Pediatric Neurology. 21:078-084

مصطلحات موضوعية: cilium, Joubert syndrome, Pediatrics, Perinatology and Child Health, ciliopathies, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e0cd74450c21948db6b5c4bb3b4608aTest
https://doi.org/10.1055/s-0042-1759533Test

المؤلفون: Casoni, Filippo, Croci, Laura, Vincenti, Francesca, Podini, Paola, Riba, Michela, Massimino, Luca, Cremona, Ottavio, Consalez, G. Giacomo

المصدر: Development (09501991); Nov2020, Vol. 147 Issue 22, p1-13, 13p

مصطلحات موضوعية: CHOROID plexus, RHOMBENCEPHALON, JOUBERT syndrome, CEREBROSPINAL fluid, EPITHELIAL cells

المؤلفون: Katsumi Hayakawa, Hirotomo Saitsu, Hiroko Matsushita, Takuya Hiraide, Sozo Okano, Mitsuhiro Kato, Mitsuko Nakashima

المصدر: Brain and Development. 44:161-165

مصطلحات موضوعية: endocrine system, Pathology, medicine.medical_specialty, business.industry, Cilium, General Medicine, medicine.disease, Compound heterozygosity, Ciliopathies, Hypotonia, Joubert syndrome, Developmental Neuroscience, Nephronophthisis, Pediatrics, Perinatology and Child Health, Polycystic kidney disease, Medicine, Neurology (clinical), medicine.symptom, Oculomotor apraxia, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c027a1854a2e077406d573caf5966a4Test
https://doi.org/10.1016/j.braindev.2021.10.004Test

المؤلفون: Jamie M Ellingford, Jenny Carmichael, Carmel Toomes, Christopher M. Watson, Roel P J Bevers, Colin A. Johnson, James A. Poulter, Matthew Roche, Helen K. Brittain, Gabrielle Wheway, Alex Stuckey, Sunayna Best, Chris F. Inglehearn, Jenny Lord, Katarzyna Szymanska

المصدر: Best, S, Lord, J, Roche, M, Watson, C M, Poulter, J A, Bevers, R P J, Stuckey, A, Szymanska, K, Ellingford, J M, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, C, Johnson, C A & Wheway, G 2021, ' Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108065Test

مصطلحات موضوعية: Proband, diagnosis, Genomics, Disease, medical, Ciliopathies, State Medicine, Joubert syndrome, Human Phenotype Ontology, genomics, Genetics, Humans, Medicine, genetics, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), business.industry, Cilium, congenital, Kidney Diseases, Cystic, medicine.disease, Ciliopathy, Phenotype, and neonatal diseases and abnormalities, business, hereditary

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ae82c691b2420bcaacf19be4171770Test
https://doi.org/10.1136/jmedgenet-2021-108065Test

المؤلفون: Muqing Cao, Dan Meng, Minjun Jin, Tian Zhu, Chao Lu, Yong Zhao, Xuan Zou, Huike Jiao, Gao Huafang, Chengtian Zhao, Zaisheng Lin, Yue Shen, Xueyan Wang, Li Cao, Min Huang, Hui Li, Cai Ruikun, Xu Ma, Minna Luo, Ruida He, Guanjun Luo, Cao Zongfu, Ruifang Sui, Shijing Wu

المصدر: Genetics in Medicine. 23:1041-1049

مصطلحات موضوعية: Genetics, Cilium, Kidney Diseases, Cystic, Biology, medicine.disease, Ciliopathies, Phosphoric Monoester Hydrolases, Retina, Joubert syndrome, Cytoskeletal Proteins, Ciliopathy, Intraflagellar transport, Cerebellum, Ciliogenesis, INPP5E, medicine, Animals, Humans, Abnormalities, Multiple, Hedgehog Proteins, Eye Abnormalities, sense organs, Ciliary membrane, Zebrafish, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127ad44b0bfaf0e2964913f0402a42d6Test
https://doi.org/10.1038/s41436-021-01106-zTest