Zobrazeno 1 - 10
of 359
pro vyhledávání: '"P. Rainger"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Violeta Trejo-Reveles, Nicholas Owen, Brian Ho Ching Chan, Maria Toms, Jeffrey J. Schoenebeck, Mariya Moosajee, Joe Rainger
Publikováno v:
Biomolecules, Vol 13, Iss 2, p 293 (2023)
Ocular coloboma (OC) is a failure of complete optic fissure closure during embryonic development and presents as a tissue defect along the proximal–distal axis of the ventral eye. It is classed as part of the clinical spectrum of structural eye mal
Externí odkaz:
https://doaj.org/article/70121b3fb3cf460a85da815051afe8ee
Autor:
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0268149 (2022)
Classical aniridia is a congenital and progressive panocular disorder almost exclusively caused by heterozygous loss-of-function variants at the PAX6 locus. We report nine individuals from five families with severe aniridia and/or microphthalmia (wit
Externí odkaz:
https://doaj.org/article/9d06bad8b8e446029dee31c9786b024b
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Carys A. Pugh, Lindsay L. Farrell, Ailsa J. Carlisle, Stephen J. Bush, Adam Ewing, Violeta Trejo-Reveles, Oswald Matika, Arne de Kloet, Caitlin Walsh, Stephen C. Bishop, James G. D. Prendergast, Joe Rainger, Jeffrey J. Schoenebeck, Kim M. Summers
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 9, Iss 3, Pp 943-954 (2019)
Goniodysgenesis is a developmental abnormality of the anterior chamber of the eye. It is generally considered to be congenital in dogs (Canis lupus familiaris), and has been associated with glaucoma and blindness. Goniodysgenesis and early-onset glau
Externí odkaz:
https://doaj.org/article/5f6ba9d23e0c4a9a99e17cea7ae5f8a3
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Leukocyte trafficking shows strong diurnal rhythmicity and is tightly regulated by circadian rhythms. As we age, leukocyte trafficking becomes dysregulated, contributing to the increased systemic, low-grade, chronic inflammation observed in older adu
Externí odkaz:
https://doaj.org/article/9bdc45911b8c449ab73fccb04be10c54
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2021)
A key embryonic process that occurs early in ocular development is optic fissure closure (OFC). This fusion process closes the ventral optic fissure and completes the circumferential continuity of the 3-dimensional eye. It is defined by the coming to
Externí odkaz:
https://doaj.org/article/83b113ed8eda4c858a0a5d75073557d2
Autor:
Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam Jackson, James G Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica van Heyningen, Peter Kind, Catherine M Abbott, Emily Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 16, Iss 8, p e0256181 (2021)
Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinical cohort that is plausibly enr
Externí odkaz:
https://doaj.org/article/4eb3db40878647e9883fefc1a958a6db
Autor:
Martin A M Reijns, Louise Thompson, Juan Carlos Acosta, Holly A Black, Francisco J Sanchez-Luque, Austin Diamond, David A Parry, Alison Daniels, Marie O'Shea, Carolina Uggenti, Maria C Sanchez, Alan O'Callaghan, Michelle L L McNab, Martyna Adamowicz, Elias T Friman, Toby Hurd, Edward J Jarman, Frederic Li Mow Chee, Jacqueline K Rainger, Marion Walker, Camilla Drake, Dasa Longman, Christine Mordstein, Sophie J Warlow, Stewart McKay, Louise Slater, Morad Ansari, Ian P M Tomlinson, David Moore, Nadine Wilkinson, Jill Shepherd, Kate Templeton, Ingolfur Johannessen, Christine Tait-Burkard, Jürgen G Haas, Nick Gilbert, Ian R Adams, Andrew P Jackson
Publikováno v:
PLoS Biology, Vol 18, Iss 12, p e3001030 (2020)
With the ongoing COVID-19 (Coronavirus Disease 2019) pandemic, caused by the novel coronavirus SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2), there is a need for sensitive, specific, and affordable diagnostic tests to identify infected
Externí odkaz:
https://doaj.org/article/cd5310c0965d4b4f882567dc2bff3e3b