The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L
Published in Journal of medical genetics (01.03.2015)
Published in Journal of medical genetics (01.03.2015)
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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.10.2016)
Published in Nature genetics (01.10.2016)
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Chen, Yuyang, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A., D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae, Elias, Ellen R., Elmslie, Frances, Evans, Care-Anne, Ezell, Kimberly, Fraser, Jamie L., Gallacher, Lyndon, Genetti, Casie A., Grant, Christina L., Haack, Tobias, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lecoquierre, François, Fevre, Anna Le, Leventer, Richard J., Liebelt, Jan E., Lindsay, Sarah, Lockhart, Paul J., Ma, Alan S., Macnamara, Ellen F., Mendez, Hector R., Metcalfe, Kay, Montgomery, Stephen B., Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E., Pattani, Nikhil, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L., Reuter, Chloe M., Revencu, Nicole, Riess, Angelika, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A., Sachdev, Rani, Shaw-Smith, Charles J., Simons, Cas, Sisodiya, Sanjay M., Snell, Penny, St Clair, Laura, Stewart, Helen S., Tan, Natalie B., Temple, Suzanna E. L., Thorburn, David R., Tifft, Cynthia J., VanNoy, Grace E., Vilain, Eric, Viskochil, David H., Wedd, Laura, Wheeler, Matthew T., White, Susan M., Wojcik, Monica, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana, Depienne, Christel, MacArthur, Daniel G., Sanders, Stephan J., O’Donnell-Luria, Anne, Whiffin, Nicola
Published in Nature (London) (22.08.2024)
Published in Nature (London) (22.08.2024)
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BET Inhibition Suppresses S100A8 and S100A9 Expression in Acute Myeloid Leukemia Cells and Synergises with Daunorubicin in Causing Cell Death
Stewart, Helen J. S., Chaudry, Sabah, Crichlow, Asante, Luiling Feilding, Freya, Chevassut, Timothy J. T.
Published in Bone marrow research (01.01.2018)
Published in Bone marrow research (01.01.2018)
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Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene-Lessons for corneal amyloidogenesis
Stewart, Helen S., Ridgway, Alan E., Dixon, Michael J., Bonshek, Richard, Parveen, Rahat, Black, Graeme
Published in Human mutation (1999)
Published in Human mutation (1999)
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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice
Babbs, Christian, Stewart, Helen S., Williams, Louise J., Connell, Lyndsey, Goriely, Anne, Twigg, Stephen R.F., Smith, Kim, Lester, Tracy, Wilkie, Andrew O.M.
Published in Human mutation (01.08.2011)
Published in Human mutation (01.08.2011)
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Nanog requires BRD4 to maintain murine embryonic stem cell pluripotency and is suppressed by bromodomain inhibitor JQ1 together with Lefty1
Horne, Gillian A, Stewart, Helen J S, Dickson, Jacqueline, Knapp, Stefan, Ramsahoye, Bernard, Chevassut, Timothy
Published in Stem cells and development (01.04.2015)
Published in Stem cells and development (01.04.2015)
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Synthesis and Biological Investigation of (+)-JD1, an Organometallic BET Bromodomain Inhibitor
Hassell-Hart, Storm, Runcie, Andrew, Krojer, Tobias, Doyle, Jordan, Lineham, Ella, Ocasio, Cory A, Neto, Brenno A. D, Fedorov, Oleg, Marsh, Graham, Maple, Hannah, Felix, Robert, Banks, Rebecca, Ciulli, Alessio, Picaud, Sarah, Filippakopoulos, Panagis, von Delft, Frank, Brennan, Paul, Stewart, Helen J. S, Chevassut, Timothy J, Walker, Martin, Austin, Carol, Morley, Simon, Spencer, John
Published in Organometallics (10.02.2020)
Published in Organometallics (10.02.2020)
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DIS3 isoforms vary in their endoribonuclease activity and are differentially expressed within haematological cancers
Robinson, Sophie R, Viegas, Sandra C, Matos, Rute G, Domingues, Susana, Bedir, Marisa, Stewart, Helen J S, Chevassut, Timothy J, Oliver, Antony W, Arraiano, Cecilia M, Newbury, Sarah F
Published in Biochemical journal (29.06.2018)
Published in Biochemical journal (29.06.2018)
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Probing BRD Inhibition Substituent Effects in Bulky Analogues of (+)‐JQ1
Hassell‐Hart, Storm, Picaud, Sarah, Lengacher, Raphael, Csucker, Joshua, Millet, Regis, Gasser, Gilles, Alberto, Roger, Maple, Hannah, Felix, Robert, Leśnikowski, Zbigniew J., Stewart, Helen J. S., Chevassut, Timothy J., Morley, Simon, Filippakopoulos, Panagis, Spencer, John
Published in Helvetica chimica acta (01.03.2021)
Published in Helvetica chimica acta (01.03.2021)
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Acute myeloid leukemia cells exhibit selective down-regulation of DNMT3A isoform 2
Stewart, Helen J. S., Shalit, Ella, Halliday, Loryn, Morey, Dominic, Chevassut, Timothy J.
Published in Leukemia & lymphoma (02.12.2015)
Published in Leukemia & lymphoma (02.12.2015)
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Developmental regulation and overexpression of the transcription factor AP-2, a potential regulator of the timing of Schwann cell generation
Stewart, Helen J. S., Brennan, Angela, Rahman, Mary, Zoidl, Georg, Mitchell, Pamela J., Jessen, Kristján R., Mirsky, Rhona
Published in The European journal of neuroscience (01.07.2001)
Published in The European journal of neuroscience (01.07.2001)
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Substrate-induced phenotypic switches of human smooth muscle cells: an in vitro study of in-stent restenosis activation pathways
Guildford, Anna L., Stewart, Helen J. S., Morris, Christopher, Santin, Matteo
Published in Journal of the Royal Society interface (06.05.2011)
Published in Journal of the Royal Society interface (06.05.2011)
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Lack of galectin‐1 results in defects in myoblast fusion and muscle regeneration
Georgiadis, Vasilios, Stewart, Helen J.S., Pollard, Hilary J., Tavsanoglu, Yasemin, Prasad, Rathi, Horwood, Julia, Deltour, Louise, Goldring, Kirstin, Poirier, Francoise, Lawrence‐Watt, Diana J.
Published in Developmental dynamics (01.04.2007)
Published in Developmental dynamics (01.04.2007)
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Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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