Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Joe Rainger"'
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
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 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:
Holly Hardy, James GD Prendergast, Aara Patel, Sunit Dutta, Violeta Trejo-Reveles, Hannah Kroeger, Andrea R Yung, Lisa V Goodrich, Brian Brooks, Jane C Sowden, Joe Rainger
Publikováno v:
eLife, Vol 8 (2019)
Epithelial fusion underlies many vital organogenic processes during embryogenesis. Disruptions to these cause a significant number of human birth defects, including ocular coloboma. We provide robust spatial-temporal staging and unique anatomical det
Externí odkaz:
https://doaj.org/article/954b152a5b0d453aa0310ee5b9f00758
Autor:
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007866 (2018)
[This corrects the article DOI: 10.1371/journal.pgen.1002114.].
Externí odkaz:
https://doaj.org/article/5eacb5aa2aef4ceabdeb674476983ece
Autor:
Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004359 (2014)
Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephrop
Externí odkaz:
https://doaj.org/article/dc810faba09b405ebb5e4373b5094526
Autor:
Joe Rainger, Margaret Keighren, Douglas R Keene, Noe L Charbonneau, Jacqueline K Rainger, Malcolm Fisher, Sebastien Mella, Jeffrey T-J Huang, Lorraine Rose, Rob van't Hof, Lynne Y Sakai, Ian J Jackson, David R Fitzpatrick
Publikováno v:
PLoS Genetics, Vol 9, Iss 12, p e1003998 (2013)
Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2
Externí odkaz:
https://doaj.org/article/d52ba708d0874089b9a47b709d857fb5
Autor:
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick
Publikováno v:
PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent target
Externí odkaz:
https://doaj.org/article/14f960f7e2974b98bdeb21467c0aa11c
Autor:
Brianda A. Hernandez-Moran, Andrew S. Papanastasiou, David Parry, Alison Meynert, Philippe Gautier, Graeme Grimes, Ian R. Adams, Violeta Trejo-Reveles, Hemant Bengani, Margaret Keighren, Ian J. Jackson, David J. Adams, David R. FitzPatrick, Joe Rainger
Publikováno v:
Genes; Volume 13; Issue 10; Pages: 1797
Hernandez-Moran, B A, Papanastasiou, A, Parry, D, Meynert, A M, Gautier, P, Grimes, G R, Adams, I R, Trejo-Reveles, V, Bengani, H, Keighren, M, Jackson, I J, Adams, D J, FitzPatrick, D R & Rainger, J 2022, ' Robust genetic analysis of the X-linked anophthalmic (Ie) mouse ', Genes, vol. 13, no. 10, 1797, pp. 1-14 . https://doi.org/10.3390/genes13101797
Hernandez-Moran, B A, Papanastasiou, A, Parry, D, Meynert, A M, Gautier, P, Grimes, G R, Adams, I R, Trejo-Reveles, V, Bengani, H, Keighren, M, Jackson, I J, Adams, D J, FitzPatrick, D R & Rainger, J 2022, ' Robust genetic analysis of the X-linked anophthalmic (Ie) mouse ', Genes, vol. 13, no. 10, 1797, pp. 1-14 . https://doi.org/10.3390/genes13101797
Anophthalmia (missing eye) describes a failure of early embryonic ocular development. Mutations in a relatively small set of genes account for 75% of bilateral anophthalmia cases, yet 25% of families currently are left without a molecular diagnosis.