Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss
Rajab, Anna, Kelberman, Daniel, de Castro, Sandra C.P., Biebermann, Heike, Shaikh, Hala, Pearce, Kerra, Hall, Catherine M., Shaikh, Guftar, Gerrelli, Dianne, Grueters, Annette, Krude, Heiko, Dattani, Mehul T.
Published in Human molecular genetics (15.07.2008)
Published in Human molecular genetics (15.07.2008)
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Journal Article
Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model
Gustavsson, Peter, Greene, Nicholas D.E., Lad, Dina, Pauws, Erwin, de Castro, Sandra C.P., Stanier, Philip, Copp, Andrew J.
Published in Human molecular genetics (01.11.2007)
Published in Human molecular genetics (01.11.2007)
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Journal Article
Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model
Norris, Francesca C., Siow, Bernard M., Cleary, Jon O., Wells, Jack A., De Castro, Sandra C.P., Ordidge, Roger J., Greene, Nicholas D.E., Copp, Andrew J., Scambler, Peter J., Alexander, Daniel. C., Lythgoe, Mark F.
Published in Magnetic resonance in medicine (01.02.2015)
Published in Magnetic resonance in medicine (01.02.2015)
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Journal Article
Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice
De Castro, Sandra C P, Malhas, Ashraf, Leung, Kit-Yi, Gustavsson, Peter, Vaux, David J, Copp, Andrew J, Greene, Nicholas D E
Published in PLoS genetics (01.11.2012)
Published in PLoS genetics (01.11.2012)
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Journal Article
Folate metabolite profiling of different cell types and embryos suggests variation in folate one-carbon metabolism, including developmental changes in human embryonic brain
Leung, Kit-Yi, De Castro, Sandra C. P., Cabreiro, Filipe, Gustavsson, Peter, Copp, Andrew J., Greene, Nicholas D. E.
Published in Molecular and cellular biochemistry (01.06.2013)
Published in Molecular and cellular biochemistry (01.06.2013)
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Journal Article
Lactococcus lactis carrying a DNA vaccine coding for the ESAT‐6 antigen increases IL‐17 cytokine secretion and boosts the BCG vaccine immune response
Pereira, V.B., Cunha, V.P., Preisser, T.M., Souza, B.M., Turk, M.Z., De Castro, C.P., Azevedo, M.S.P., Miyoshi, A.
Published in Journal of applied microbiology (01.06.2017)
Published in Journal of applied microbiology (01.06.2017)
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Journal Article
Phenotypic plasticity in chemical defence of butterflies allows usage of diverse host plants
de Castro, Érika C P, Musgrove, Jamie, Bak, Søren, McMillan, W Owen, Jiggins, Chris D
Published in Biology letters (2005) (31.03.2021)
Published in Biology letters (2005) (31.03.2021)
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Journal Article
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele
Crane-Smith, Zoe, De Castro, Sandra C P, Nikolopoulou, Evanthia, Wolujewicz, Paul, Smedley, Damian, Lei, Yunping, Mather, Emma, Santos, Chloe, Hopkinson, Mark, Pitsillides, Andrew A, Finnell, Richard H, Ross, M Elisabeth, Copp, Andrew J, Greene, Nicholas D E
Published in Human molecular genetics (26.08.2023)
Published in Human molecular genetics (26.08.2023)
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Journal Article
AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia
Leung, Kit-Yi, Santos, Chloe, De Castro, Sandra C.P., Diaz, Diana Gold, Copp, Andrew J., Waddington, Simon, Greene, Nicholas D.E.
Published in Molecular genetics and metabolism (01.07.2024)
Published in Molecular genetics and metabolism (01.07.2024)
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Journal Article
The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance
Bookey, Niamh, Drago, Paola, Leung, Kit-Yi, Hughes, Linda, MacCooey, Aoife, Ozaki, Mari, Henry, Michael, De Castro, Sandra C.P., Doykov, Ivan, Heywood, Wendy E., Mills, Kevin, Murphy, Michelle M., Cavallé-Busquets, Pere, Campbell, Susan, Burtenshaw, Denise, Meleady, Paula, Cahill, Paul A., Greene, Nicholas D.E., Parle-McDermott, Anne
Published in Molecular & cellular proteomics (01.03.2024)
Published in Molecular & cellular proteomics (01.03.2024)
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Journal Article
Spinal neural tube closure depends on regulation of surface ectoderm identity and biomechanics by Grhl2
Nikolopoulou, Evanthia, Hirst, Caroline S., Galea, Gabriel, Venturini, Christina, Moulding, Dale, Marshall, Abigail R., Rolo, Ana, De Castro, Sandra C. P., Copp, Andrew J., Greene, Nicholas D. E.
Published in Nature communications (06.06.2019)
Published in Nature communications (06.06.2019)
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Journal Article
Neural tube closure depends on expression of Grainyhead-like 3 in multiple tissues
De Castro, Sandra C.P., Hirst, Caroline S., Savery, Dawn, Rolo, Ana, Lickert, Heiko, Andersen, Bogi, Copp, Andrew J., Greene, Nicholas D.E.
Published in Developmental biology (15.03.2018)
Published in Developmental biology (15.03.2018)
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Journal Article
Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities
Castleman, Victoria H., Romio, Leila, Chodhari, Rahul, Hirst, Robert A., de Castro, Sandra C.P., Parker, Keith A., Ybot-Gonzalez, Patricia, Emes, Richard D., Wilson, Stephen W., Wallis, Colin, Johnson, Colin A., Herrera, Rene J., Rutman, Andrew, Dixon, Mellisa, Shoemark, Amelia, Bush, Andrew, Hogg, Claire, Gardiner, R. Mark, Reish, Orit, Greene, Nicholas D.E., O'Callaghan, Christopher, Purton, Saul, Chung, Eddie M.K., Mitchison, Hannah M.
Published in American journal of human genetics (13.02.2009)
Published in American journal of human genetics (13.02.2009)
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Journal Article
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice
De Castro, Sandra C P, Gustavsson, Peter, Marshall, Abigail R, Gordon, William M, Galea, Gabriel, Nikolopoulou, Evanthia, Savery, Dawn, Rolo, Ana, Stanier, Philip, Andersen, Bogi, Copp, Andrew J, Greene, Nicholas D E
Published in Human molecular genetics (15.12.2018)
Published in Human molecular genetics (15.12.2018)
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Journal Article
Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System
Leung, Kit-Yi, De Castro, Sandra C P, Galea, Gabriel L, Copp, Andrew J, Greene, Nicholas D E
Published in Frontiers in genetics (25.01.2021)
Published in Frontiers in genetics (25.01.2021)
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Journal Article
Variation of chemical compounds in wild Heliconiini reveals ecological factors involved in the evolution of chemical defenses in mimetic butterflies
Sculfort, Ombeline, Castro, Erika C. P., Kozak, Krzysztof M., Bak, Søren, Elias, Marianne, Nay, Bastien, Llaurens, Violaine
Published in Ecology and evolution (01.03.2020)
Published in Ecology and evolution (01.03.2020)
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Journal Article
Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects
Sudiwala, Sonia, De Castro, Sandra C.P., Leung, Kit-Yi, Brosnan, John T., Brosnan, Margaret E., Mills, Kevin, Copp, Andrew J., Greene, Nicholas D.E.
Published in Biochimie (01.07.2016)
Published in Biochimie (01.07.2016)
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Journal Article
SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development
Kelberman, Daniel, de Castro, Sandra C. P, Huang, Shuwen, Crolla, John A, Palmer, Rodger, Gregory, John W, Taylor, David, Cavallo, Luciano, Faienza, Maria F, Fischetto, Rita, Achermann, John C, Martinez-Barbera, Juan Pedro, Rizzoti, Karine, Lovell-Badge, Robin, Robinson, Iain C. A. F, Gerrelli, Dianne, Dattani, Mehul T
Published in The journal of clinical endocrinology and metabolism (01.05.2008)
Published in The journal of clinical endocrinology and metabolism (01.05.2008)
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Journal Article
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia
Leung, Kit‐Yi, De Castro, Sandra C. P., Santos, Chloe, Savery, Dawn, Prunty, Helen, Gold‐Diaz, Diana, Bennett, Stuart, Heales, Simon, Copp, Andrew J., Greene, Nicholas D. E.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Journal Article