Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome
Lanaspa, Miguel A., Ishimoto, Takuji, Li, Nanxing, Cicerchi, Christina, Orlicky, David J., Ruzycki, Philip, Rivard, Christopher, Inaba, Shinichiro, Roncal-Jimenez, Carlos A., Bales, Elise S., Diggle, Christine P., Asipu, Aruna, Petrash, J. Mark, Kosugi, Tomoki, Maruyama, Shoichi, Sanchez-Lozada, Laura G., McManaman, James L., Bonthron, David T., Sautin, Yuri Y., Johnson, Richard J.
Published in Nature communications (10.09.2013)
Published in Nature communications (10.09.2013)
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Journal Article
Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy
Lanaspa, Miguel A, Ishimoto, Takuji, Cicerchi, Christina, Tamura, Yoshifuru, Roncal-Jimenez, Carlos A, Chen, Wei, Tanabe, Katsuyuki, Andres-Hernando, Ana, Orlicky, David J, Finol, Esteban, Inaba, Shinichiro, Li, Nanxing, Rivard, Christopher J, Kosugi, Tomoki, Sanchez-Lozada, Laura G, Petrash, J Mark, Sautin, Yuri Y, Ejaz, A Ahsan, Kitagawa, Wataru, Garcia, Gabriela E, Bonthron, David T, Asipu, Aruna, Diggle, Christine P, Rodriguez-Iturbe, Bernardo, Nakagawa, Takahiko, Johnson, Richard J
Published in Journal of the American Society of Nephrology (01.11.2014)
Published in Journal of the American Society of Nephrology (01.11.2014)
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Journal Article
Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice
Ishimoto, Takuji, Lanaspa, Miguel A, Le, MyPhuong T, Garcia, Gabriela E, Diggle, Christine P, MacLean, Paul S, Jackman, Matthew R, Asipu, Aruna, Roncal-Jimenez, Carlos A, Kosugi, Tomoki, Rivard, Christopher J, Maruyama, Shoichi, Rodriguez-Iturbe, Bernardo, Sánchez-Lozada, Laura G, Bonthron, David T, Sautin, Yuri Y, Johnson, Richard J
Published in Proceedings of the National Academy of Sciences - PNAS (13.03.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (13.03.2012)
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Journal Article
An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies
Chang, Leon, Motley, Rebecca, Daly, Catherine L, Diggle, Christine P, Hopkins, Philip M, Shaw, Marie-Anne
Published in International journal of molecular sciences (01.03.2024)
Published in International journal of molecular sciences (01.03.2024)
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Journal Article
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Bonthron, David T, Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Biele ska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P
Published in Nature genetics (01.06.2008)
Published in Nature genetics (01.06.2008)
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Journal Article
Ketohexokinase: Expression and Localization of the Principal Fructose-metabolizing Enzyme
Diggle, Christine P, Shires, Michael, Leitch, Derek, Brooke, David, Carr, Ian M, Markham, Alex F, Hayward, Bruce E, Asipu, Aruna, Bonthron, David T
Published in The journal of histochemistry and cytochemistry (01.08.2009)
Published in The journal of histochemistry and cytochemistry (01.08.2009)
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Journal Article
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, Clare V, Lucke, Barbara, Pottinger, Caroline, Abdelhamed, Zakia A, Parry, David A, Szymanska, Katarzyna, Diggle, Christine P, van Riesen, Anne, Morgan, Joanne E, Markham, Grace, Ellis, Ian, Manzur, Adnan Y, Markham, Alexander F, Shires, Mike, Helliwell, Tim, Scoto, Mariacristina, Hübner, Christoph, Bonthron, David T, Taylor, Graham R, Sheridan, Eamonn, Muntoni, Francesco, Carr, Ian M, Schuelke, Markus, Johnson, Colin A
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Journal Article
A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development
Diggle, Christine P, Martinez-Garay, Isabel, Molnar, Zoltan, Brinkworth, Martin H, White, Ed, Fowler, Ewan, Hughes, Ruth, Hayward, Bruce E, Carr, Ian M, Watson, Christopher M, Crinnion, Laura, Asipu, Aruna, Woodman, Ben, Coletta, P Louise, Markham, Alexander F, Dear, T Neil, Bonthron, David T, Peckham, Michelle, Morrison, Ewan E, Sheridan, Eamonn
Published in PloS one (07.04.2017)
Published in PloS one (07.04.2017)
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Journal Article
Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes
Ye, Sunjie, Wheeler, May C, McLaughlan, James R, Tamang, Abiral, Diggle, Christine P, Cespedes, Oscar, Markham, Alex F, Coletta, P Louise, Evans, Stephen D
Published in International journal of molecular sciences (08.08.2018)
Published in International journal of molecular sciences (08.08.2018)
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Journal Article
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface
Watson, Christopher M., Crinnion, Laura A., Morgan, Joanne E., Harrison, Sally M., Diggle, Christine P., Adlard, Julian, Lindsay, Helen A., Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T., Taylor, Graham R., Carr, Ian M.
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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Journal Article
Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype
Carr, Ian M, Diggle, Christine P, Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T, Markham, Alexander F, Anwar, Rashida, Dobbie, Angus, Pena, Sergio D J, Ali, Manir
Published in PloS one (17.08.2012)
Published in PloS one (17.08.2012)
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Journal Article
An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas
Touqan, Nader, Diggle, Christine P, Verghese, Edlo T, Perry, Sarah, Horgan, Kieran, Merchant, William, Anwar, Rashida, Markham, Alexander F, Carr, Ian M, Achuthan, Rajgopal
Published in BMC clinical pathology (13.12.2013)
Published in BMC clinical pathology (13.12.2013)
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Journal Article
High‐fat and high‐sucrose (western) diet induces steatohepatitis that is dependent on fructokinase
Ishimoto, Takuji, Lanaspa, Miguel A., Rivard, Christopher J., Roncal‐Jimenez, Carlos A., Orlicky, David J., Cicerchi, Christina, McMahan, Rachel H., Abdelmalek, Manal F., Rosen, Hugo R., Jackman, Matthew R., MacLean, Paul S., Diggle, Christine P., Asipu, Aruna, Inaba, Shinichiro, Kosugi, Tomoki, Sato, Waichi, Maruyama, Shoichi, Sánchez‐Lozada, Laura G., Sautin, Yuri Y., Hill, James O., Bonthron, David T., Johnson, Richard J.
Published in Hepatology (Baltimore, Md.) (01.11.2013)
Published in Hepatology (Baltimore, Md.) (01.11.2013)
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Journal Article
Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia
Chang, Leon, Liu, Xiaochen, Diggle, Christine P., Boyle, John P., Hopkins, Philip M., Shaw, Marie-Anne, Allen, Paul D.
Published in The Journal of biological chemistry (06.11.2020)
Published in The Journal of biological chemistry (06.11.2020)
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Journal Article
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy
Diggle, Christine P., Sukoff Rizzo, Stacey J., Popiolek, Michael, Hinttala, Reetta, Schülke, Jan-Philip, Kurian, Manju A., Carr, Ian M., Markham, Alexander F., Bonthron, David T., Watson, Christopher, Sharif, Saghira Malik, Reinhart, Veronica, James, Larry C., Vanase-Frawley, Michelle A., Charych, Erik, Allen, Melanie, Harms, John, Schmidt, Christopher J., Ng, Joanne, Pysden, Karen, Strick, Christine, Vieira, Päivi, Mankinen, Katariina, Kokkonen, Hannaleena, Kallioinen, Matti, Sormunen, Raija, Rinne, Juha O., Johansson, Jarkko, Alakurtti, Kati, Huilaja, Laura, Hurskainen, Tiina, Tasanen, Kaisa, Anttila, Eija, Marques, Tiago Reis, Howes, Oliver, Politis, Marius, Fahiminiya, Somayyeh, Nguyen, Khanh Q., Majewski, Jacek, Uusimaa, Johanna, Sheridan, Eamonn, Brandon, Nicholas J.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment
Giancane, Gabriella, Diggle, Christine P, Legger, Elizabeth G, Tekstra, Janneke, Prakken, Berent, Brenkman, Arjan B, Carr, Ian M, Markham, Alexander F, Bonthron, David T, Wulffraat, Nico
Published in Journal of rheumatology (01.11.2015)
Published in Journal of rheumatology (01.11.2015)
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Journal Article
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus
Diggle, Christine P, Moore, Daniel J, Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, von Kriegsheim, Alex, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine
Published in PLoS genetics (01.09.2014)
Published in PLoS genetics (01.09.2014)
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Journal Article
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Diggle, Christine P., Parry, David A., Logan, Clare V., Laissue, Paul, Rivera, Carolina, Restrepo, Carlos Martín, Fonseca, Dora J., Morgan, Joanne E., Allanore, Yannick, Fontenay, Michaela, Wipff, Julien, Varret, Mathilde, Gibault, Laure, Dalantaeva, Nadezhda, Korbonits, Márta, Zhou, Bowen, Yuan, Gang, Harifi, Ghita, Cefle, Kivanc, Palanduz, Sukru, Akoglu, Hadim, Zwijnenburg, Petra J., Lichtenbelt, Klaske D., Aubry-Rozier, Bérengère, Superti-Furga, Andrea, Dallapiccola, Bruno, Accadia, Maria, Brancati, Francesco, Sheridan, Eamonn G., Taylor, Graham R., Carr, Ian M., Johnson, Colin A., Markham, Alexander F., Bonthron, David T.
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Journal Article
Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome
Ingham, Danielle, Diggle, Christine P., Berry, Ian, Bristow, Claire A., Hayward, Bruce E., Rahman, Nazneen, Markham, Alexander F., Sheridan, Eamonn G., Bonthron, David T., Carr, Ian M.
Published in Human mutation (01.06.2013)
Published in Human mutation (01.06.2013)
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Journal Article