Zobrazeno 1 - 10
of 129
pro vyhledávání: '"Oliver E, Blacque"'
Autor:
Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
Motile and non-motile cilia have distinct functions and protein complexes associated with them. Here, the authors show the conserved protein CFAP20 is important for both motile and non-motile cilia and is distinct from other ciliopathy-associated dom
Externí odkaz:
https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 1 (2021)
Ciliopathies are inherited disorders caused by defects in motile and non-motile (primary) cilia. Ciliopathy syndromes and associated gene variants are often highly pleiotropic and represent exemplars for interrogating genotype-phenotype correlations.
Externí odkaz:
https://doaj.org/article/6e572f4fbe2047a6978c6f0df9f26b98
Autor:
Stephen P. Carter, Ailís L. Moran, David Matallanas, Gavin J. McManus, Oliver E. Blacque, Breandán N. Kennedy
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
The photoreceptor outer segment is the canonical example of a modified and highly specialized cilium, with an expanded membrane surface area in the form of disks or lamellae for efficient light detection. Many ciliary proteins are essential for norma
Externí odkaz:
https://doaj.org/article/ef7a1d290c774872bd9bc97b96ba6596
Autor:
Jyothi S Akella, Stephen P Carter, Ken Nguyen, Sofia Tsiropoulou, Ailis L Moran, Malan Silva, Fatima Rizvi, Breandan N Kennedy, David H Hall, Maureen M Barr, Oliver E Blacque
Publikováno v:
eLife, Vol 9 (2020)
Cilia both receive and send information, the latter in the form of extracellular vesicles (EVs). EVs are nano-communication devices that influence cell, tissue, and organism behavior. Mechanisms driving ciliary EV biogenesis are almost entirely unkno
Externí odkaz:
https://doaj.org/article/255a9f0af14d40348773432bb55495c4
Autor:
Catrina M Loucks, Kwangjin Park, Denise S Walker, Andrea H McEwan, Tiffany A Timbers, Evan L Ardiel, Laura J Grundy, Chunmei Li, Jacque-Lynne Johnson, Julie Kennedy, Oliver E Blacque, William Schafer, Catharine H Rankin, Michel R Leroux
Publikováno v:
eLife, Vol 8 (2019)
Neurons throughout the mammalian brain possess non-motile cilia, organelles with varied functions in sensory physiology and cellular signaling. Yet, the roles of cilia in these neurons are poorly understood. To shed light into their functions, we stu
Externí odkaz:
https://doaj.org/article/187f16f490b2476e89b17a0470140d3f
Autor:
Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliar
Externí odkaz:
https://doaj.org/article/206fb09f592a41a7979de76d71996765
Autor:
Mustafa S. Pir, Ferhan Yenisert, Aslı Karaman, Efe Begar, Sofia Tsiropoulou, Elif Nur Firat-Karalar, Oliver E Blacque, Sukru S. Oner, Osman Doluca, Sebiha Cevik, Oktay I. Kaplan
Discovering the entire list of human ciliary genes would help in the diagnosis of cilia-related human disorders known as ciliopathy, but at present the genetic diagnosis of many ciliopathies (over 30%) is far from complete (Bachmann-Gagescu et al., 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f695f3c659ece482d3ceaba43b74fcf
https://doi.org/10.1101/2023.03.31.535034
https://doi.org/10.1101/2023.03.31.535034
Autor:
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new in
Externí odkaz:
https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0
Publikováno v:
Human Molecular Genetics. 31:1574-1587
Better methods are required to interpret the pathogenicity of disease-associated variants of uncertain significance (VUS), which cannot be actioned clinically. In this study, we explore the use of an animal model (Caenorhabditis elegans) for in vivo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35157031026d9a8932f4cd948b272b3
https://doi.org/10.1093/hmg/ddab344
https://doi.org/10.1093/hmg/ddab344
Autor:
Ailís L. Moran, Stephen P. Carter, Joanna J. Kaylor, Zhichun Jiang, Sanne Broekman, Eugene T. Dillon, Alicia Gómez Sánchez, Sajal K. Minhas, Erwin van Wijk, Roxana A. Radu, Gabriel H. Travis, Michelle Carey, Oliver E. Blacque, Breandán N. Kennedy
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, vol 36, iss 5
The Faseb Journal, 36, 5
The Faseb Journal, 36
The FASEB Journal
The Faseb Journal, 36, 5
The Faseb Journal, 36
The FASEB Journal
RAB28 is a farnesylated, ciliary G-protein. Patient variants in RAB28 are causative of autosomal recessive cone-rod dystrophy (CRD), an inherited human blindness. In rodent and zebrafish models, the absence of Rab28 results in diminished dawn, photor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1121cfbe3238300672bbd2e4fe224d47
https://escholarship.org/uc/item/3tb646fs
https://escholarship.org/uc/item/3tb646fs