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)
Get full text
Journal Article
Association of embryonic inositol status with susceptibility to neural tube defects, metabolite profile, and maternal inositol intake
Leung, Kit‐Yi, Weston, Eleanor, De Castro, Sandra C. P., Nikolopoulou, Evanthia, Sudiwala, Sonia, Savery, Dawn, Eaton, Simon, Copp, Andrew J., Greene, Nicholas D. E.
Published in The FASEB journal (15.06.2024)
Published in The FASEB journal (15.06.2024)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
Get full text
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)
Get full text
Journal Article
Regulation of cell protrusions by small GTPases during fusion of the neural folds
Rolo, Ana, Savery, Dawn, Escuin, Sarah, de Castro, Sandra C, Armer, Hannah E J, Munro, Peter M G, Molè, Matteo A, Greene, Nicholas D E, Copp, Andrew J
Published in eLife (26.04.2016)
Published in eLife (26.04.2016)
Get full text
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)
Get full text
Journal Article
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Nucleotide precursors prevent folic acid-resistant neural tube defects in the mouse
LEUNG, Kit-Yi, DE CASTRO, Sandra C. P, SAVERY, Dawn, COPP, Andrew J, GREENE, Nicholas D. E
Published in Brain (London, England : 1878) (01.09.2013)
Published in Brain (London, England : 1878) (01.09.2013)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse
BROUNS, Madeleine R, DE CASTRO, Sandra C. P, KÖHLER, Eleonore, VAN STRAATEN, Henny W, COPP, Andrew J, GREENE, Nicholas D. E, TERWINDT-ROUWENHORST, Els A, MASSA, Valentina, HEKKING, Johan W, HIRST, Caroline S, SAVERY, Dawn, MUNTS, Chantal, PARTRIDGE, Darren, LAMERS, Wout
Published in Human molecular genetics (15.04.2011)
Published in Human molecular genetics (15.04.2011)
Get full text
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)
Get full text
Journal Article