Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia
Gaignard, Pauline, Menezes, Minal, Schiff, Manuel, Bayot, Aurélien, Rak, Malgorzata, Ogier de Baulny, Hélène, Su, Chen-Hsien, Gilleron, Mylene, Lombes, Anne, Abida, Heni, Tzagoloff, Alexander, Riley, Lisa, Cooper, Sandra T., Mina, Kym, Sivadorai, Padma, Davis, Mark R., Allcock, Richard J.N., Kresoje, Nina, Laing, Nigel G., Thorburn, David R., Slama, Abdelhamid, Christodoulou, John, Rustin, Pierre
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.
Published in American journal of human genetics (07.08.2014)
Published in American journal of human genetics (07.08.2014)
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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Todd, Emily J, Yau, Kyle S, Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P, Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F, Freckmann, Mary-Louise, Romero, Norma B, Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M, Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J N, Beeson, David, Maxwell, Susan, Davis, Mark R, Laing, Nigel G, Ravenscroft, Gianina
Published in Orphanet journal of rare diseases (17.11.2015)
Published in Orphanet journal of rare diseases (17.11.2015)
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MicroRNA Signatures in Malignant Pleural Mesothelioma Effusions
Badrian, Bahareh, Mutsaers, Steven E., Creaney, Jenette, Allcock, Richard J. N., Fitzgerald, Deirdre, Lee, Y. C. Gary, de Klerk, Nicholas, Musk, Arthur William, Prêle, Cecilia M., Birnie, Kimberly A., Thompson, Philip J.
Published in Disease markers (2019)
Published in Disease markers (2019)
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Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma
Sneddon, Sophie, Leon, Justine S., Dick, Ian M., Cadby, Gemma, Olsen, Nola, Brims, Fraser, Allcock, Richard J.N., Moses, Eric K., Melton, Phillip E., de Klerk, Nicholas, Musk, A.W. (Bill), Robinson, Bruce W.S., Creaney, Jenette
Published in Gene (25.05.2015)
Published in Gene (25.05.2015)
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A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer
Schmidt, Henri, Kulasinghe, Arutha, Allcock, Richard J N, Tan, Lit Yeen, Mokany, Elisa, Kenny, Liz, Punyadeera, Chamindie
Published in Diagnostics (Basel) (29.11.2018)
Published in Diagnostics (Basel) (29.11.2018)
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Complete MHC haplotype sequencing for common disease gene mapping
Stewart, C Andrew, Horton, Roger, Allcock, Richard J N, Ashurst, Jennifer L, Atrazhev, Alexey M, Coggill, Penny, Dunham, Ian, Forbes, Simon, Halls, Karen, Howson, Joanna M M, Humphray, Sean J, Hunt, Sarah, Mungall, Andrew J, Osoegawa, Kazutoyo, Palmer, Sophie, Roberts, Anne N, Rogers, Jane, Sims, Sarah, Wang, Yu, Wilming, Laurens G, Elliott, John F, de Jong, Pieter J, Sawcer, Stephen, Todd, John A, Trowsdale, John, Beck, Stephan
Published in Genome research (01.06.2004)
Published in Genome research (01.06.2004)
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Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex
Scott, Adrian P, Laing, Nigel G, Mastaglia, Frank, Needham, Merrilee, Walter, Maggie C, Dalakas, Marinos C, Allcock, Richard J.N
Published in Journal of neuroimmunology (01.06.2011)
Published in Journal of neuroimmunology (01.06.2011)
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Polymorphisms at positions -22 and -348 in the promoter of the BAT1 gene affect transcription and the binding of nuclear factors
Price, Patricia, Wong, Agnes M.-L., Williamson, David, Voon, Dominic, Baltic, Svetlana, Allcock, Richard J.N., Boodhoo, Alvin, Christiansen, Frank T.
Published in Human molecular genetics (01.05.2004)
Published in Human molecular genetics (01.05.2004)
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Susceptibility to multiple sclerosis mediated by HLA-DRB1 is influenced by a second gene telomeric of the TNF cluster
Allcock, Richard J.N., de la Concha, Emilio G., Fernandez-Arquero, Miguel, Vigil, Patricia, Conejero, Laura, Arroyo, Rafael, Price, Patricia
Published in Human immunology (01.12.1999)
Published in Human immunology (01.12.1999)
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Localization of central MHC genes influencing type I diabetes
Cheong, Karey Y, Allcock, Richard J.N, Eerligh, Peter, Witt, Campbell S, Christiansen, Frank T, McCann, Vincent, Price, Patricia
Published in Human immunology (01.12.2001)
Published in Human immunology (01.12.2001)
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Towards a Universal Molecular Microbiological Test
Allcock, Richard J N, Jennison, Amy V, Warrilow, David
Published in Journal of clinical microbiology (01.11.2017)
Published in Journal of clinical microbiology (01.11.2017)
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Do variations in the HLA-E ligand encoded by UL40 distinguish individuals susceptible to HCMV disease?
Waters, Shelley, Allcock, Richard J.N., Lee, Silvia, Downing, Jonathan, Ariyanto, Ibnu, Leary, Shay, Munyard, Kylie, Irish, Ashley, Price, Patricia
Published in Human immunology (01.02.2023)
Published in Human immunology (01.02.2023)
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Combined DNA, toxicological and heavy metal analyses provides an auditing toolkit to improve pharmacovigilance of traditional Chinese medicine (TCM)
Coghlan, Megan L., Maker, Garth, Crighton, Elly, Haile, James, Murray, Dáithí C., White, Nicole E., Byard, Roger W., Bellgard, Matthew I., Mullaney, Ian, Trengove, Robert, Allcock, Richard J. N., Nash, Christine, Hoban, Claire, Jarrett, Kevin, Edwards, Ross, Musgrave, Ian F., Bunce, Michael
Published in Scientific reports (10.12.2015)
Published in Scientific reports (10.12.2015)
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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hirotomo, Osaka, Hitoshi, Yamashita, Sumimasa, Ohya, Takashi, Sakamoto, Yuko, Koshimizu, Eriko, Imamura, Shintaro, Yamashita, Michiaki, Ogata, Kazuhiro, Shiina, Masaaki, Bryson-Richardson, Robert J., Vaz, Raquel, Ceyhan, Ozge, Brownstein, Catherine A., Swanson, Lindsay C., Monnot, Sophie, Romero, Norma B., Amthor, Helge, Kresoje, Nina, Sivadorai, Padma, Kiraly-Borri, Cathy, Haliloglu, Goknur, Talim, Beril, Orhan, Diclehan, Kale, Gulsev, Charles, Adrian K., Fabian, Victoria A., Davis, Mark R., Lammens, Martin, Sewry, Caroline A., Manzur, Adnan, Muntoni, Francesco, Clarke, Nigel F., North, Kathryn N., Bertini, Enrico, Nevo, Yoram, Willichowski, Ekkhard, Silberg, Inger E., Topaloglu, Haluk, Beggs, Alan H., Allcock, Richard J.N., Nishino, Ichizo, Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Laing, Nigel G.
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Nationwide, Couple-Based Genetic Carrier Screening
Kirk, Edwin P, Delatycki, Martin B, Archibald, Alison D, Tutty, Erin, Caruana, Jade, Halliday, Jane L, Lewis, Sharon, McClaren, Belinda J, Newson, Ainsley J, Dive, Lisa, Best, Stephanie, Long, Janet C, Braithwaite, Jeffrey, Downes, Martin J, Scuffham, Paul A, Massie, John, Barlow-Stewart, Kristine, Kulkarni, Abhi, Ruscigno, Amy, Kanga-Parabia, Anaita, Rodrigues, Bianca, Bennetts, Bruce H, Ebzery, Camron, Hunt, Clare, Cliffe, Corrina C, Lee, Crystle, Azmanov, Dimitar, King, Emily A, Madelli, Evanthia O, Zhang, Futao, Ho, Gladys, Danos, Isabelle, Liebelt, Jan, Fletcher, Janice, Kennedy, Jillian, Beilby, John, Emery, Jon D, McGaughran, Julie, Marum, Justine E, Scarff, Katrina, Fisk, Katrina, Harrison, Katrina, Boggs, Kirsten, Giameos, Lana, Fitzgerald, Lara, Thomas, Lauren, Burnett, Leslie, Freeman, Lucinda, Harris, Madeleine, Berbic, Marina, Davis, Mark R, Cifuentes Ochoa, Marta, Wallis, Mathew, Wall, Meaghan, Chow, Melissa T M, Ferrie, Monica M, Pachter, Nicholas, Quayum, Nila, Lang, Nitzan, Kasi Pandy, Praveena, Casella, Rachael, Allcock, Richard J N, Ong, Royston, Edwards, Samantha, Sundercombe, Samantha, Jelenich, Sarah, Righetti, Sarah, Lunke, Sebastian, Kaur, Sharanbeer, Stock-Myer, Sharyn, Eggers, Stefanie, Walker, Susan P, Theodorou, Tahlia, Catchpool, Tara, Clinch, Tenielle, Roscioli, Tony, Hardy, Tristan, Zhu, Ying, Fehlberg, Zoe, Boughtwood, Tiffany F, Laing, Nigel G
Published in The New England journal of medicine (21.11.2024)
Published in The New England journal of medicine (21.11.2024)
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