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	61.	Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice. [electronic resource] by 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 Producer: 20120508 In: Proceedings of the National Academy of Sciences of the United States of America vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	62.	A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development. [electronic resource] by 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 Producer: 20170907 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	63.	Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome. [electronic resource] by Lanaspa, Miguel A Ishimoto, Takuji Li, Nanxing Cicerchi, Christina Orlicky, David J Ruzycki, Philip Ruzicky, 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 Producer: 20140401 In: Nature communications vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	64.	Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. [electronic resource] by Bonnefoy, Serge Watson, Christopher M Kernohan, Kristin D Lemos, Moara Hutchinson, Sebastian Poulter, James A Crinnion, Laura A Berry, Ian Simmonds, Jennifer Vasudevan, Pradeep O'Callaghan, Chris Hirst, Robert A Rutman, Andrew Huang, Lijia Hartley, Taila Grynspan, David Moya, Eduardo Li, Chunmei Carr, Ian M Bonthron, David T Leroux, Michel Boycott, Kym M Bastin, Philippe Sheridan, Eamonn G Producer: 20190514 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	65.	HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. [electronic resource] by 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 Producer: 20151106 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	66.	Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). [electronic resource] by 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 Producer: 20120120 In: Nature genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	67.	High-fat and high-sucrose (western) diet induces steatohepatitis that is dependent on fructokinase. [electronic resource] by 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 Producer: 20140312 In: Hepatology (Baltimore, Md.) vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	68.	Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy. [electronic resource] by 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 Producer: 20150105 In: Journal of the American Society of Nephrology : JASN vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	69.	Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. [electronic resource] by Crow, Yanick J Hayward, Bruce E Parmar, Rekha Robins, Peter Leitch, Andrea Ali, Manir Black, Deborah N van Bokhoven, Hans Brunner, Han G Hamel, Ben C Corry, Peter C Cowan, Frances M Frints, Suzanne G Klepper, Joerg Livingston, John H Lynch, Sally Ann Massey, Roger F Meritet, Jean François Michaud, Jacques L Ponsot, Gerard Voit, Thomas Lebon, Pierre Bonthron, David T Jackson, Andrew P Barnes, Deborah E Lindahl, Tomas Producer: 20060911 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	70.	De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. [electronic resource] by Mirzaa, Ghayda Parry, David A Fry, Andrew E Giamanco, Kristin A Schwartzentruber, Jeremy Vanstone, Megan Logan, Clare V Roberts, Nicola Johnson, Colin A Singh, Shawn Kholmanskikh, Stanislav S Adams, Carissa Hodge, Rebecca D Hevner, Robert F Bonthron, David T Braun, Kees P J Faivre, Laurence Rivière, Jean-Baptiste St-Onge, Judith Gripp, Karen W Mancini, Grazia Ms Pang, Ki Sweeney, Elizabeth van Esch, Hilde Verbeek, Nienke Wieczorek, Dagmar Steinraths, Michelle Majewski, Jacek Boycot, Kym M Pilz, Daniela T Ross, M Elizabeth Dobyns, William B Sheridan, Eamonn G Producer: 20140616 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	71.	Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. [electronic resource] by 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 Producer: 20121128 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	72.	Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. [electronic resource] by Logan, Clare V Szabadkai, György Sharpe, Jenny A Parry, David A Torelli, Silvia Childs, Anne-Marie Kriek, Marjolein Phadke, Rahul Johnson, Colin A Roberts, Nicola Y Bonthron, David T Pysden, Karen A Whyte, Tamieka Munteanu, Iulia Foley, A Reghan Wheway, Gabrielle Szymanska, Katarzyna Natarajan, Subaashini Abdelhamed, Zakia A Morgan, Joanne E Roper, Helen Santen, Gijs W E Niks, Erik H van der Pol, W Ludo Lindhout, Dick Raffaello, Anna De Stefani, Diego den Dunnen, Johan T Sun, Yu Ginjaar, Ieke Sewry, Caroline A Hurles, Matthew Rizzuto, Rosario Duchen, Michael R Muntoni, Francesco Sheridan, Eamonn Producer: 20140325 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	73.	Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. [electronic resource] by 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 Producer: 20160829 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	74.	Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. [electronic resource] by Crow, Yanick J Leitch, Andrea Hayward, Bruce E Garner, Anna Parmar, Rekha Griffith, Elen Ali, Manir Semple, Colin Aicardi, Jean Babul-Hirji, Riyana Baumann, Clarisse Baxter, Peter Bertini, Enrico Chandler, Kate E Chitayat, David Cau, Daniel Déry, Catherine Fazzi, Elisa Goizet, Cyril King, Mary D Klepper, Joerg Lacombe, Didier Lanzi, Giovanni Lyall, Hermione Martínez-Frías, María Luisa Mathieu, Michèle McKeown, Carole Monier, Anne Oade, Yvette Quarrell, Oliver W Rittey, Christopher D Rogers, R Curtis Sanchis, Amparo Stephenson, John B P Tacke, Uta Till, Marianne Tolmie, John L Tomlin, Pam Voit, Thomas Weschke, Bernhard Woods, C Geoffrey Lebon, Pierre Bonthron, David T Ponting, Chris P Jackson, Andrew P Producer: 20060911 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	75.	Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. [electronic resource] by Rice, Gillian I Bond, Jacquelyn Asipu, Aruna Brunette, Rebecca L Manfield, Iain W Carr, Ian M Fuller, Jonathan C Jackson, Richard M Lamb, Teresa Briggs, Tracy A Ali, Manir Gornall, Hannah Couthard, Lydia R Aeby, Alec Attard-Montalto, Simon P Bertini, Enrico Bodemer, Christine Brockmann, Knut Brueton, Louise A Corry, Peter C Desguerre, Isabelle Fazzi, Elisa Cazorla, Angels Garcia Gener, Blanca Hamel, Ben C J Heiberg, Arvid Hunter, Matthew van der Knaap, Marjo S Kumar, Ram Lagae, Lieven Landrieu, Pierre G Lourenco, Charles M Marom, Daphna McDermott, Michael F van der Merwe, William Orcesi, Simona Prendiville, Julie S Rasmussen, Magnhild Shalev, Stavit A Soler, Doriette M Shinawi, Marwan Spiegel, Ronen Tan, Tiong Y Vanderver, Adeline Wakeling, Emma L Wassmer, Evangeline Whittaker, Elizabeth Lebon, Pierre Stetson, Daniel B Bonthron, David T Crow, Yanick J Producer: 20090717 In: Nature genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	76.	Clinical and molecular phenotype of Aicardi-Goutieres syndrome. [electronic resource] by Rice, Gillian Patrick, Teresa Parmar, Rekha Taylor, Claire F Aeby, Alec Aicardi, Jean Artuch, Rafael Montalto, Simon Attard Bacino, Carlos A Barroso, Bruno Baxter, Peter Benko, Willam S Bergmann, Carsten Bertini, Enrico Biancheri, Roberta Blair, Edward M Blau, Nenad Bonthron, David T Briggs, Tracy Brueton, Louise A Brunner, Han G Burke, Christopher J Carr, Ian M Carvalho, Daniel R Chandler, Kate E Christen, Hans-Jurgen Corry, Peter C Cowan, Frances M Cox, Helen D'Arrigo, Stefano Dean, John De Laet, Corinne De Praeter, Claudine Dery, Catherine Ferrie, Colin D Flintoff, Kim Frints, Suzanna G M Garcia-Cazorla, Angels Gener, Blanca Goizet, Cyril Goutieres, Francoise Green, Andrew J Guet, Agnes Hamel, Ben C J Hayward, Bruce E Heiberg, Arvid Hennekam, Raoul C Husson, Marie Jackson, Andrew P Jayatunga, Rasieka Jiang, Yong-Hui Kant, Sarina G Kao, Amy King, Mary D Kingston, Helen M Klepper, Joerg van der Knaap, Marjo S Kornberg, Andrew J Kotzot, Dieter Kratzer, Wilfried Lacombe, Didier Lagae, Lieven Landrieu, Pierre Georges Lanzi, Giovanni Leitch, Andrea Lim, Ming J Livingston, John H Lourenco, Charles M Lyall, E G Hermione Lynch, Sally A Lyons, Michael J Marom, Daphna McClure, John P McWilliam, Robert Melancon, Serge B Mewasingh, Leena D Moutard, Marie-Laure Nischal, Ken K Ostergaard, John R Prendiville, Julie Rasmussen, Magnhild Rogers, R Curtis Roland, Dominique Rosser, Elisabeth M Rostasy, Kevin Roubertie, Agathe Sanchis, Amparo Schiffmann, Raphael Scholl-Burgi, Sabine Seal, Sunita Shalev, Stavit A Corcoles, C Sierra Sinha, Gyan P Soler, Doriette Spiegel, Ronen Stephenson, John B P Tacke, Uta Tan, Tiong Yang Till, Marianne Tolmie, John L Tomlin, Pam Vagnarelli, Federica Valente, Enza Maria Van Coster, Rudy N A Van der Aa, Nathalie Vanderver, Adeline Vles, Johannes S H Voit, Thomas Wassmer, Evangeline Weschke, Bernhard Whiteford, Margo L Willemsen, Michel A A Zankl, Andreas Zuberi, Sameer M Orcesi, Simona Fazzi, Elisa Lebon, Pierre Crow, Yanick J Producer: 20071030 In: American journal of human genetics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)