Zobrazeno 1 - 10
of 55
pro vyhledávání: '"CEP78"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Tianyu Zhu, Yuxin Zhang, Xunlun Sheng, Xiangzheng Zhang, Yu Chen, Hongjing Zhu, Yueshuai Guo, Yaling Qi, Yichen Zhao, Qi Zhou, Xue Chen, Xuejiang Guo, Chen Zhao
Publikováno v:
eLife, Vol 12 (2023)
Cone-rod dystrophy (CRD) is a genetically inherited retinal disease that can be associated with male infertility, while the specific genetic mechanisms are not well known. Here, we report CEP78 as a causative gene of a particular syndrome including C
Externí odkaz:
https://doaj.org/article/656b7f27f6584f30845ae0c7ea24ff87
Autor:
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
Publikováno v:
eLife, Vol 10 (2021)
CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy associated with hearing loss. However, the mechanism by which CEP78 affects cilia formation is unkn
Externí odkaz:
https://doaj.org/article/4d5f5e4294184f34b50a9cda61e1c689
Autor:
Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart
Externí odkaz:
https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3
Publikováno v:
Chinese Journal of Cancer, Vol 35, Iss 1, Pp 1-9 (2016)
Abstract Background Centrosomal protein 78 (CEP78) has been characterized as a component of the centrosome required for the regulation of centrosome-related events during the cell cycle, but its role in human cancers remains unclear. This study aimed
Externí odkaz:
https://doaj.org/article/69b4a5a9288146d9b1750daa2436312b
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Lähteenoja, L. (Laura), Häkli, S. (Sanna), Tuupanen, S. (Sari), Kuismin, O. (Outi), Palosaari, T. (Tapani), Rahikkala, E. (Elisa), Falck, A. (Aura)
Background: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::afb9e2a827923a4e264c235e1c8fcb24
http://urn.fi/urn:nbn:fi-fe2022092159767
http://urn.fi/urn:nbn:fi-fe2022092159767
Autor:
Joseph Ryu, Stephen H. Tsang, Andrew R. Webster, Eeva-Marja Sankila, Ramiro S. Maldonado, Wadih M. Zein, Lindsey Pyers, Elena R. Schiff, Cristy A. Ku, Jeeyun Ahn, Michael B. Gorin, Mariana Matioli da Palma, Michalis Georgiou, Juliana Maria Ferraz Sallum, Jin Kyun Oh, Paul Yang, Ajoy Vincent, Byron L. Lam, Mark E. Pennesi, Michel Michaelides, Austin D. Igelman
Publikováno v:
Ophthalmic genetics, vol 42, iss 6
Ophthalmic Genet
Ophthalmic Genet
BACKGROUND: Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here we characterize the clinical phenotypic of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12. MATERIALS AND METHODS: Chart review evaluating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8960670d9c0f98cf50a87a64f9ffe5
https://escholarship.org/uc/item/0vc5m5k3
https://escholarship.org/uc/item/0vc5m5k3
Autor:
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
Publikováno v:
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.63731
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.63731
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.63731
CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy associated with hearing loss. However, the mechanism by which CEP78 affects cilia formation is unkn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3a7d2563e61fcb57025b1d22c78b416
https://findresearcher.sdu.dk:8443/ws/files/185246823/elife_63731_v2.pdf
https://findresearcher.sdu.dk:8443/ws/files/185246823/elife_63731_v2.pdf
Autor:
Jan De Bleecker, David Creytens, Matias Wagner, Sophie Walraedt, Christiane Neuhofer, Kirsten A. Wunderlich, Almut Turid Bischoff, Irina Balikova, Gabriele Holtappels, Bart P. Leroy, Pietro Farinelli, Thalia Van Laethem, Konstantinos Nikopoulos, Thomas Klopstock, Frank Peelman, Claus Bachert, Lara Derycke, Nina Lambrechts, Sarah De Jaegere, Jan Gerris, Riet De Rycke, Lotte B. Pedersen, Frauke Coppieters, Carlo Rivolta, Giulia Ascari, Elfride De Baere, Toon Rosseel, Pernille Martens, Brecht Guillemyn, Jo Van Dorpe, Olga Krysko
Publikováno v:
Human mutation 41(5), 998-1011 (2020). doi:10.1002/humu.23993
Human Mutation
HUMAN MUTATION
Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, K A, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, L B, Klopstock, T, Rivolta, C, Leroy, B P, De Baere, E & Coppieters, F 2020, ' Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility ', Human Mutation, vol. 41, no. 5, pp. 998-1011 . https://doi.org/10.1002/humu.23993
Human Mutation
HUMAN MUTATION
Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, K A, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, L B, Klopstock, T, Rivolta, C, Leroy, B P, De Baere, E & Coppieters, F 2020, ' Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility ', Human Mutation, vol. 41, no. 5, pp. 998-1011 . https://doi.org/10.1002/humu.23993
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized the first CEP78 missense vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196f4251d9acc06335a2b6535feb8fc9