Search Results - "Allcock, Richard J.N"

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy by 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.

“…Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of…”
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Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia by 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

“…Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T…”
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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy by 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.

“…Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy,…”
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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth by 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

“…Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although…”
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MicroRNA Signatures in Malignant Pleural Mesothelioma Effusions by 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.

“…Malignant pleural mesothelioma (MPM) is an incurable cancer of the pleura that can be difficult to diagnose. Biomarkers for an easier and/or earlier diagnosis…”
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Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma by 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

“…Malignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos. It is not known why some exposed individuals get…”
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A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer by Schmidt, Henri, Kulasinghe, Arutha, Allcock, Richard J N, Tan, Lit Yeen, Mokany, Elisa, Kenny, Liz, Punyadeera, Chamindie

“…PIK3CA pathways are the most frequently mutated oncogenic pathway in head and neck squamous cell carcinoma (HNSCC), including virally driven HNCs. PIK3CA is…”
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Complete MHC haplotype sequencing for common disease gene mapping by 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

“…The future systematic mapping of variants that confer susceptibility to common diseases requires the construction of a fully informative polymorphism map…”
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Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis by Scott, Adrian P, Laing, Nigel G, Mastaglia, Frank, Dalakas, Marinos, Needham, Merrilee, Allcock, Richard J.N

“…Abstract The NOTCH4 gene, located within the MHC region, is involved in cellular differentiation and has varying effects dependent on tissue type. Coding…”
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Archival Isolates Confirm a Single Topotype of West Nile Virus in Australia by Huang, Bixing, Prow, Natalie A, van den Hurk, Andrew F, Allcock, Richard J N, Moore, Peter R, Doggett, Stephen L, Warrilow, David

“…West Nile virus is globally wide-spread and causes significant disease in humans and animals. The evolution of West Nile virus Kunjin subtype in Australia…”
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Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex by Scott, Adrian P, Laing, Nigel G, Mastaglia, Frank, Needham, Merrilee, Walter, Maggie C, Dalakas, Marinos C, Allcock, Richard J.N

“…Abstract Susceptibility to sporadic inclusion body myositis (sIBM) in Caucasians has been consistently associated with alleles of the major histocompatibility…”
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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 by Price, Patricia, Wong, Agnes M.-L., Williamson, David, Voon, Dominic, Baltic, Svetlana, Allcock, Richard J.N., Boodhoo, Alvin, Christiansen, Frank T.

“…BAT1 (D6S81E, UAP56) lies in the central MHC between TNF and HLA-B, a region containing genes that affect susceptibility to immunopathologic disorders. BAT1…”
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Susceptibility to multiple sclerosis mediated by HLA-DRB1 is influenced by a second gene telomeric of the TNF cluster by Allcock, Richard J.N., de la Concha, Emilio G., Fernandez-Arquero, Miguel, Vigil, Patricia, Conejero, Laura, Arroyo, Rafael, Price, Patricia

“…Susceptibility to multiple sclerosis (MS) is clearly associated with human leukocyte antigen (HLA)-DRB1∗1501, but some studies show associations with HLA-B7…”
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Localization of central MHC genes influencing type I diabetes by Cheong, Karey Y, Allcock, Richard J.N, Eerligh, Peter, Witt, Campbell S, Christiansen, Frank T, McCann, Vincent, Price, Patricia

“…The contribution of MHC class II haplotypes to susceptibility to type I diabetes has been clearly established, and interest has now focused on the effects of…”
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Getting from sequence information to useful answers in exome analysis - general principles by Allcock, Richard J.N.

“…Analysis of the entire human exome has rapidly become a method of choice for identifying both known and new disease-causing mutations. In Mendelian disorders…”
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Towards a Universal Molecular Microbiological Test by Allcock, Richard J N, Jennison, Amy V, Warrilow, David

“…The standard paradigm for microbiological testing is dependent on the presentation of a patient to a clinician. Tests are then requested based on differential…”
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Do variations in the HLA-E ligand encoded by UL40 distinguish individuals susceptible to HCMV disease? by Waters, Shelley, Allcock, Richard J.N., Lee, Silvia, Downing, Jonathan, Ariyanto, Ibnu, Leary, Shay, Munyard, Kylie, Irish, Ashley, Price, Patricia

“…Human cytomegalovirus (HCMV) is carried lifelong by ∼80 % of adults worldwide, generating distinct disease syndromes in transplant recipients, people with HIV…”
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Combined DNA, toxicological and heavy metal analyses provides an auditing toolkit to improve pharmacovigilance of traditional Chinese medicine (TCM) by 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

“…Globally, there has been an increase in the use of herbal remedies including traditional Chinese medicine (TCM). There is a perception that products are…”
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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy by 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.

“…Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of…”
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Nationwide, Couple-Based Genetic Carrier Screening by 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.

“…In this study, 77% of couples identified as having an increased risk of having a child with an autosomal recessive or X-linked condition used or planned to use…”
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