Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Margaret Keighren"'
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, Vol 13, Iss 10, p 1797 (2022)
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.
Externí odkaz:
https://doaj.org/article/24813787dfdf4334be55a7a9617139c1
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:
Emma A Hall, Margaret Keighren, Matthew J Ford, Tracey Davey, Andrew P Jarman, Lee B Smith, Ian J Jackson, Pleasantine Mill
Publikováno v:
PLoS Genetics, Vol 9, Iss 12, p e1003928 (2013)
Defects in cilium and centrosome function result in a spectrum of clinically-related disorders, known as ciliopathies. However, the complex molecular composition of these structures confounds functional dissection of what any individual gene product
Externí odkaz:
https://doaj.org/article/bf05ad0dfc23402d971383ade42edfa5
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
Publikováno v:
PLoS ONE, Vol 5, Iss 9, p e12498 (2010)
BACKGROUND:Response to painful stimuli is susceptible to genetic variation. Numerous loci have been identified which contribute to this variation, one of which, MC1R, is better known as a gene involved in mammalian hair colour. MC1R is a G protein-co
Externí odkaz:
https://doaj.org/article/b22de4fb5d1c412c9db537b8936ddfa7
Autor:
Pleasantine Mill, Angela W S Lee, Yuko Fukata, Ryouhei Tsutsumi, Masaki Fukata, Margaret Keighren, Rebecca M Porter, Lisa McKie, Ian Smyth, Ian J Jackson
Publikováno v:
PLoS Genetics, Vol 5, Iss 11, p e1000748 (2009)
Palmitoylation is a key post-translational modification mediated by a family of DHHC-containing palmitoyl acyl-transferases (PATs). Unlike other lipid modifications, palmitoylation is reversible and thus often regulates dynamic protein interactions.
Externí odkaz:
https://doaj.org/article/09ed730c4c174956bbd080d242b8255b
Autor:
Brianda Areli Hernandez-Moran, Andrew S Papanastasiou, Dave Parry, Alison Meynert, Phillipe Gautier, Graeme Grimes, Ian R Adams, Violeta Trejo-Reveles, Hemant Bengani, Margaret Keighren, Ian J Jackson, David J Adams, David R FitzPatrick, Joe Rainger
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.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eec85128c105efbfd42e7a59d1d344ee
https://doi.org/10.1101/2022.08.05.502661
https://doi.org/10.1101/2022.08.05.502661
Autor:
Sally H. Cross, Lisa Mckie, Margaret Keighren, Katrine West, Caroline Thaung, Tracey Davey, Dinesh C. Soares, Luis Sanchez-Pulido, Ian J. Jackson
PURPOSEWe previously found a dominant mutation,Rwhs, causing white spots on the retina accompanied by retinal folds. Here we identify the mutant gene to beTmem98.In humans, mutations in the orthologous gene cause nanophthalmos. We modelled these muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45a2bb08db52897d1ccb08cc52200c46
Publikováno v:
Journal of visualized experiments : JoVE. (87)
Melanoblasts are the neural crest derived precursors of melanocytes; the cells responsible for producing the pigment in skin and hair. Melanoblasts migrate through the epidermis of the embryo where they subsequently colonize the developing hair folli
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
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