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Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
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
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
Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis
Watson, Christopher M., Holliday, Deborah L., Crinnion, Laura A., Bonthron, David T.
Published in Prenatal diagnosis (01.02.2022)
Published in Prenatal diagnosis (01.02.2022)
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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
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
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
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
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Journal Article
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Bieleńska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P, Bonthron, David T
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
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
AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data
Watson, Christopher M., Lascelles, Carolina, Raynor, Morag, Elpidorou, Marilena, Hany, Ummey, Crinnion, Laura, Johnson, Colin A., Sheridan, Eamonn, Markham, Alexander F., Poulter, James A., Bonthron, David T., Carr, Ian M.
Published in Biology (Basel, Switzerland) (09.06.2025)
Published in Biology (Basel, Switzerland) (09.06.2025)
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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
SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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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
A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes
Smith, Claire E. L., Alexandraki, Alexia, Cordery, Sarah F., Parmar, Rekha, Bonthron, David T., Valleley, Elizabeth M. A.
Published in PloS one (28.09.2017)
Published in PloS one (28.09.2017)
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Journal Article
A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome
Watson, Christopher M., Crinnion, Laura A., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Carr, Ian M., Bonthron, David T., Sheridan, Eamonn
Published in PloS one (07.06.2016)
Published in PloS one (07.06.2016)
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Journal Article
SAMHD1-dependent retroviral control and escape in mice
Rehwinkel, Jan, Maelfait, Jonathan, Bridgeman, Anne, Rigby, Rachel, Hayward, Bruce, Liberatore, Rachel A, Bieniasz, Paul D, Towers, Greg J, Moita, Luis F, Crow, Yanick J, Bonthron, David T, Reis e Sousa, Caetano
Published in The EMBO journal (11.09.2013)
Published in The EMBO journal (11.09.2013)
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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
Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole
Hayward, Bruce E, De Vos, Michel, Talati, Nargese, Abdollahi, M. Reza, Taylor, Graham R, Meyer, Esther, Williams, Denise, Maher, Eamonn R, Setna, Faridon, Nazir, Kausar, Hussaini, Shahnaz, Jafri, Hussain, Rashid, Yasmin, Sheridan, Eamonn, Bonthron, David T
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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Journal Article