Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Dominic P Norris"'
Autor:
Daniel T Grimes, Jennifer L Keynton, Maria T Buenavista, Xingjian Jin, Saloni H Patel, Shinohara Kyosuke, Jennifer Vibert, Debbie J Williams, Hiroshi Hamada, Rohanah Hussain, Surya M Nauli, Dominic P Norris
Publikováno v:
PLoS Genetics, Vol 12, Iss 6, p e1006070 (2016)
During mammalian development, left-right (L-R) asymmetry is established by a cilia-driven leftward fluid flow within a midline embryonic cavity called the node. This 'nodal flow' is detected by peripherally-located crown cells that each assemble a pr
Externí odkaz:
https://doaj.org/article/846e1cdd51ad455a997231888bc7b258
Autor:
Marcela Guzman-Ayala, Kian Leong Lee, Konstantinos J Mavrakis, Paraskevi Goggolidou, Dominic P Norris, Vasso Episkopou
Publikováno v:
PLoS ONE, Vol 4, Iss 1, p e4268 (2009)
The Transforming Growth Factor (TGF) beta signalling family includes morphogens, such as Nodal and Activin, with important functions in vertebrate development. The concentration of the morphogen is critical for fate decisions in the responding cells.
Externí odkaz:
https://doaj.org/article/5a1a3f9b0cd84630b10f4de01fd340e2
Autor:
Konstantinos J Mavrakis, Rebecca L Andrew, Kian Leong Lee, Chariklia Petropoulou, James E Dixon, Naveenan Navaratnam, Dominic P Norris, Vasso Episkopou
Publikováno v:
PLoS Biology, Vol 5, Iss 3, p e67 (2007)
Regulation of transforming growth factor-beta (TGF-beta) signaling is critical in vertebrate development, as several members of the TGF-beta family have been shown to act as morphogens, controlling a variety of cell fate decisions depending on concen
Externí odkaz:
https://doaj.org/article/81cc700384984570b4f834deab5ac1d0
Autor:
Jonathan B. Whitchurch, Sophia Schneider, Alina C. Hilger, Ricarda Köllges, Jil D. Stegmann, Lea Waffenschmidt, Laura Dyer, Holger Thiele, Bhanupriya Dhabhai, Tikam Chand Dakal, Andreas Müller, Dominic P. Norris, Heiko M. Reutter
Publikováno v:
Cells, Vol 13, Iss 2, p 149 (2024)
Besides visceral heterotaxia, Pkd1l1 null mouse embryos exhibit general edema and perinatal lethality. In humans, congenital chylothorax (CCT) is a frequent cause of fetal hydrops. In 2021, Correa and colleagues reported ultrarare compound heterozygo
Externí odkaz:
https://doaj.org/article/d554dbfd13274092870b1fa5adb831ac
Autor:
Dominic P. Norris, Rosie B. Little
Publikováno v:
Seminars in Cell & Developmental Biology. 110:11-18
The initial breaking of left-right (L-R) symmetry in the embryo is controlled by a motile-cilia-driven leftward fluid flow in the left-right organiser (LRO), resulting in L-R asymmetric gene expression flanking the LRO. Ultimately this results in lef
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc8d12302cc487750368356933520b1e
https://doi.org/10.1016/j.semcdb.2020.06.003
https://doi.org/10.1016/j.semcdb.2020.06.003
Autor:
Joseph S. Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A. Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H. Irons, Samuel B. Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P. Norris, Yair Anikster, Heymut Omran, Daniel T. Grimes, Andrew H. Crosby, Emma L. Baple
Publikováno v:
Leslie, J S, Hjeij, R, Vivante, A, Bearce, E A, Dyer, L, Wang, J, Rawlins, L, Kennedy, J, Ubeyratna, N, Fasham, J, Irons, Z H, Craig, S B, Koenig, J, George, S, Pode-Shakked, B, Bolkier, Y, Barel, O, Mane, S, Frederiksen, K K, Wenger, O, Scott, E, Cross, H E, Lorentzen, E, Norris, D P, Anikster, Y, Omran, H, Grimes, D T, Crosby, A H & Baple, E L 2022, ' Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities ', Genetics in Medicine, vol. 24, no. 11, pp. 2249-2261 . https://doi.org/10.1016/j.gim.2022.07.019
Purpose: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximatel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b3b5514ace8d91203c68da060b7c2d1
https://pubmed.ncbi.nlm.nih.gov/36074124
https://pubmed.ncbi.nlm.nih.gov/36074124
Autor:
Vrinda Sreekumar, Rebecca V Walker, Martin M. Knight, Jennifer L. Keynton, Christopher T. Esapa, Debbie Williams, Daniel T. Grimes, Dongsheng Wu, Dominic P. Norris
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature Communications
Nature Communications
The human PKD2 locus encodes Polycystin-2 (PC2), a TRPP channel that localises to several distinct cellular compartments, including the cilium. PKD2 mutations cause Autosomal Dominant Polycystic Kidney Disease (ADPKD) and affect many cellular pathway
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::291a3e862dc347d42b6d863e0bee35a5
http://link.springer.com/article/10.1038/s41467-019-12067-y
http://link.springer.com/article/10.1038/s41467-019-12067-y
Autor:
Dominic P. Norris, Vrinda Sreekumar
Publikováno v:
Current Opinion in Genetics & Development. 56:15-21
The role of mammalian cilia in cell signalling was first identified in embryonic development and subsequent analysis has revealed roles in multiple signalling pathways. We now understand that these developmental roles impact human health and this is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c52e6605eaeda06d42959fe722004fd
https://doi.org/10.1016/j.gde.2019.05.002
https://doi.org/10.1016/j.gde.2019.05.002
Autor:
Susana S. Lopes, Amelia Shoemark, Bruna Rubbo, Myrofora Goutaki, June K. Marthin, Claire Hogg, Hannah Wilkins, Jane S. Lucas, Kim G. Nielsen, Zuzanna Bukowy-Bieryllo, Ana Reula, Nisreen Rumman, Hannah Farley, Mahmoud R. Fassad, Claudia E. Kuehni, Katharine Harman, Dominic P. Norris, Agatha Wisse
Publikováno v:
BMC Proceedings, Vol 12, Iss S16, Pp 1-15 (2018)
BMC Proceedings
Farley, Hannah; Rubbo, Bruna; Bukowy-Bieryllo, Zuzanna; Fassad, Mahmoud; Goutaki, Myrofora; Harman, Katharine; Hogg, Claire; Kuehni, Claudia E; Lopes, Susana; Nielsen, Kim G; Norris, Dominic P; Reula, Ana; Rumman, Nisreen; Shoemark, Amelia; Wilkins, Hannah; Wisse, Agatha; Lucas, Jane S; Marthin, June K (2018). Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School. BMC Proceedings, 12(Suppl 16), p. 64. BioMed Central 10.1186/s12919-018-0161-6
BMC Proceedings
Farley, Hannah; Rubbo, Bruna; Bukowy-Bieryllo, Zuzanna; Fassad, Mahmoud; Goutaki, Myrofora; Harman, Katharine; Hogg, Claire; Kuehni, Claudia E; Lopes, Susana; Nielsen, Kim G; Norris, Dominic P; Reula, Ana; Rumman, Nisreen; Shoemark, Amelia; Wilkins, Hannah; Wisse, Agatha; Lucas, Jane S; Marthin, June K (2018). Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School. BMC Proceedings, 12(Suppl 16), p. 64. BioMed Central 10.1186/s12919-018-0161-6
Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity. Classic symptoms include neonatal respiratory distress, chronic rhinitis since early chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e74cf5f5aa057ebafc1b652f014359
http://link.springer.com/article/10.1186/s12919-018-0161-6
http://link.springer.com/article/10.1186/s12919-018-0161-6
Autor:
Laura E, Gardner, Katie L, Horton, Amelia, Shoemark, Jane S, Lucas, Kim G, Nielsen, Helene, Kobbernagel, Bruna, Rubbo, Robert A, Hirst, Panayiotis, Kouis, Nicola, Ullmann, Ana, Reula, Nisreen, Rumman, Hannah M, Mitchison, Andreia, Pinto, Charlotte, Richardson, Anne, Schmidt, James, Thompson, René, Gaupmann, Maciej, Dabrowski, Pleasantine, Mill, Siobhan B, Carr, Dominic P, Norris, Claudia E, Kuehni, Myrofora, Goutaki, Claire, Hogg
Publikováno v:
BMC Proceedings
Primary ciliary dyskinesia (PCD) is an inherited ciliopathy leading to chronic suppurative lung disease, chronic rhinosinusitis, middle ear disease, sub-fertility and situs abnormalities. As PCD is rare, it is important that scientists and clinicians
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::357274bd6a553601fcf968e5dae39bec
https://pubmed.ncbi.nlm.nih.gov/32577127
https://pubmed.ncbi.nlm.nih.gov/32577127