Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Ciliary basal body"'
Autor:
Robert A. Brinzer, David J. France, Claire McMaster, Stuart Ruddell, Alan D. Winter, Antony P. Page
Parasitic nematodes are globally important and place a heavy disease burden on infected humans, crops and livestock, while commonly administered anthelmintics used for treatment are being rendered ineffective by increasing levels of resistance. Altho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a4c713e9cd34b8c560d4cf9b1378d22
https://doi.org/10.1101/2021.10.22.465401
https://doi.org/10.1101/2021.10.22.465401
Publikováno v:
Development (Cambridge, England)
Development (Cambridge, England), Company of Biologists, 2019, 148 (13), ⟨10.1101/702282⟩
Development (Cambridge, England), Company of Biologists, 2019, 148 (13), ⟨10.1101/702282⟩
To produce a directional flow, ciliated epithelia display a uniform orientation of ciliary beating. Oriented beating requires planar cell polarity (PCP), which leads to planar orientation and asymmetric positioning of the ciliary basal body (BB) alon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0515d867f72ddebf09e51de53f7b999
https://pubmed.ncbi.nlm.nih.gov/34104942
https://pubmed.ncbi.nlm.nih.gov/34104942
Autor:
Paul Coucke, Dolilur Rahman, Mohammad Mahfujur Rahman, Saeed Anwar, Niaz Morshed, Mohammad Jakir Hosen, Sorwer Alam Parvez
Transmembrane anterior-posterior transformation protein 1 (TAPT1), encoded by the TAPT1 gene expressed in the basal ciliary body, plays a crucial role in cilia formation as well as axial skeletal patterning. Mutations in this gene have been reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbbc699cb3df2a5efa3ba40d395520cd
https://doi.org/10.1101/2020.05.18.099887
https://doi.org/10.1101/2020.05.18.099887
Publikováno v:
The International Journal of Biochemistry & Cell Biology. 129:105877
Primary cilia are microtubule-based sensory cell organelles that are vital for tissue and organ development. They act as an antenna, receiving and transducing signals, enabling communication between cells. Defects in ciliogenesis result in severe gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de7e975f8ca0d8fbf8a5599a348df92
https://doi.org/10.1016/j.biocel.2020.105877
https://doi.org/10.1016/j.biocel.2020.105877
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics, Vol 10 (2019)
Proper ciliary basal body positioning within a cell is key for cilia functioning. Centriole and basal body positioning depends on signaling pathways such as the planar cell polarity pathway (PCP) governed by Frizzled (Fz-PCP). There have been describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5d916715ab00b6b3156d83b6b3459c7
https://pubmed.ncbi.nlm.nih.gov/31031805
https://pubmed.ncbi.nlm.nih.gov/31031805
Autor:
A. Favre, Laurence Perrin, H. Lucron, Yline Capri, Yoann Vial, A. Defo, Anne-Claude Tabet, C. Thauvin-Robinet, Alain Verloes, Sandrine Passemard, N. Elenga, Laurence Faivre, Ange-Line Bruel, Jonathan I. Levy
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, In press, 〈http://onlinelibrary.wiley.com/doi/10.1111/cge.13238/abstract;jsessionid=7F706E6AD2CB61F30C261D5257E5583E.f04t02#publication-history〉. 〈10.1111/cge.13238〉
Clinical Genetics, Wiley, 2018, 93 (6), pp.1205-1209. ⟨10.1111/cge.13238⟩
Clinical Genetics, Wiley, In press, 〈http://onlinelibrary.wiley.com/doi/10.1111/cge.13238/abstract;jsessionid=7F706E6AD2CB61F30C261D5257E5583E.f04t02#publication-history〉. 〈10.1111/cge.13238〉
Clinical Genetics, Wiley, 2018, 93 (6), pp.1205-1209. ⟨10.1111/cge.13238⟩
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD syndromes are distinguished by their a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009fac9d5a06443c7e50438b8847e15e
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01731277
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01731277
Autor:
Martine Biervliet, Elena Makareeva, Aileen M. Barnes, Anne De Paepe, Andy Willaert, Fransiska Malfait, Wouter Steyaert, Joan C. Marini, Sanne D'hondt, Eckhard Witten, Sofie Symoens, Kris Vleminckx, Paul Coucke, Julie De Backer, Brecht Guillemyn, Ann Huysseune, Gabriele Gillessen-Kaesbach, Delfien Syx, Sergey Leikin, Charlotte Gistelinck
Publikováno v:
The American Journal of Human Genetics. 97:521-534
The evolutionarily conserved transmembrane anterior posterior transformation 1 protein, encoded by TAPT1, is involved in murine axial skeletal patterning, but its cellular function remains unknown. Our study demonstrates that TAPT1 mutations underlie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b01b72fab785aede3d21063df57b4e8
https://doi.org/10.1016/j.ajhg.2015.08.009
https://doi.org/10.1016/j.ajhg.2015.08.009
Autor:
Chi-Kin Chan, John Walker, Sarah J. Childs, Ryan E. Lamont, Corey R. Arnold, Chi-Yip Ho, Peter J. Spice
Publikováno v:
Developmental Dynamics. 244:211-223
Background: The zebrafish genetic mutant iguana (igu) has defects in the ciliary basal body protein Dzip1, causing improper cilia formation. Dzip1 also interacts with the downstream transcriptional activators of Hedgehog (Hh), the Gli proteins, and H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44f4fefbee8bf38781ccac89167c7880
https://doi.org/10.1002/dvdy.24237
https://doi.org/10.1002/dvdy.24237
Autor:
Pietro Farinelli, Yvan Arsenijevic, Stef J.F. Letteboer, Carlo Rivolta, Dror Sharon, Ronald Roepman, Silvio Alessandro Di Gioia
Publikováno v:
Human Molecular Genetics, 24, 3359-71
Human Molecular Genetics, 24, 12, pp. 3359-71
Human molecular genetics
Human Molecular Genetics, vol. 24, no. 12, pp. 3359-3371
Human Molecular Genetics, 24, 12, pp. 3359-71
Human molecular genetics
Human Molecular Genetics, vol. 24, no. 12, pp. 3359-3371
Item does not contain fulltext Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary blindness. By using different fragments of this protein as baits
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69737927172c0bb4c33a53a48150af5b
https://hdl.handle.net/2066/153197
https://hdl.handle.net/2066/153197
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 111, iss 6
The primary cilium plays critical roles in vertebrate development and physiology, but the mechanisms underlying its biogenesis remain poorly understood. We investigated the molecular function of C2 calcium-dependent domain containing 3 (C2cd3), an es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91243d8f43ac254933e0c46fe0f7d6df
https://doi.org/10.1073/pnas.1318737111
https://doi.org/10.1073/pnas.1318737111