Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series

Authors: Domingo, Enric, Camps, Carme, Kaisaki, Pamela J, Parsons, Marie J, Mouradov, Dmitri, Pentony, Melissa M, Makino, Seiko, Palmieri, Michelle, Ward, Robyn L, Hawkins, Nicholas J, Gibbs, Peter, Askautrud, Hanne, Oukrif, Dahmane, Wang, Haitao, Wood, Joe, Tomlinson, Evie, Bark, Yasmine, Kaur, Kulvinder, Johnstone, Elaine C, Palles, Claire, Church, David N, Novelli, Marco, Danielsen, Havard E, Sherlock, Jon, Kerr, David, Kerr, Rachel, Sieber, Oliver, Taylor, Jenny C, Tomlinson, Ian

Source: In The Lancet Gastroenterology & Hepatology September 2018 3(9):635-643

Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons

Authors: Calderari, Sophie, Ria, Massimiliano, Gérard, Christelle, Nogueira, Tatiane C., Villate, Olatz, Collins, Stephan C., Neil, Helen, Gervasi, Nicolas, Hue, Christophe, Suarez-Zamorano, Nicolas, Prado, Cécilia, Cnop, Miriam, Bihoreau, Marie-Thérèse, Kaisaki, Pamela J., Cazier, Jean-Baptiste, Julier, Cécile, Lathrop, Mark, Werner, Michel, Eizirik, Decio L. ², Gauguier, Dominique

Source: In Genomics March 2018 110(2):98-111

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Authors: Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen

Source: Clinical genetics. 95(6):693-703

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088887490.0x000001&indx=1&recIds=ETOCvdc_100088887490.0x000001

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Authors: Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger

Source: Genome Medicine; 11/9/2023, Vol. 15 Issue 1, p1-25, 25p

Subject Terms: WHOLE genome sequencing, NUCLEOTIDE sequencing, RARE diseases, LONG QT syndrome, GENETIC testing, GENOMICS

Genome Sequencing Reveals Loci under Artificial Selection that Underlie Disease Phenotypes in the Laboratory Rat

Authors: Atanur, Santosh S., Diaz, Ana Garcia, Maratou, Klio, Sarkis, Allison, Rotival, Maxime, Game, Laurence, Tschannen, Michael R., Kaisaki, Pamela J., Otto, Georg W., Ma, Man Chun John, Keane, Thomas M., Hummel, Oliver, Saar, Kathrin, Chen, Wei, Guryev, Victor, Gopalakrishnan, Kathirvel, Garrett, Michael R., Joe, Bina, Citterio, Lorena, Bianchi, Giuseppe, McBride, Martin, Dominiczak, Anna, Adams, David J., Serikawa, Tadao, Flicek, Paul, Cuppen, Edwin, Hubner, Norbert, Petretto, Enrico, Gauguier, Dominique, Kwitek, Anne, Jacob, Howard, Aitman, Timothy J.

Source: In Cell 1 August 2013 154(3):691-703

Aryl Hydrocarbon Receptor Nuclear Translocator-Like (BMAL1) Is Associated with Susceptibility to Hypertension and Type 2 Diabetes

Authors: Woon, Peng Y., Kaisaki, Pamela J., Bragança, José, Bihoreau, Marie-Thérèse, Levy, Jonathan C., Farrall, Martin, Gauguier, Dominique

Source: Proceedings of the National Academy of Sciences of the United States of America, 2007 Sep 01. 104(36), 14412-14417.

Access URL: https://www.jstor.org/stable/25436685

Genomic organization of the rat Clock gene and sequence analysis in inbred rat strains

Authors: Woon, Peng Y., Curtis, Anne M., Kaisaki, Pamela J., Argoud, Karène, Wallace, Karin J., Bihoreau, Marie-Thérèse, FitzGerald, Garret A., Gauguier, Dominique

Source: In Genomics 2006 87(2):208-217

Mutations in the diabetes susceptibility genes hepatocyte nuclear factor (HNF) 1 alpha (.alpha.), HNF1.beta. and HNF4.alpha.

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.

Authors: Kaisaki, Pamela J.^1,2 pamela.kaisaki@well.ox.ac.uk, Cutts, Anthony³, Popitsch, Niko^1,2, Camps, Carme^1,2, Pentony, Melissa M.^1,2, Wilson, Gareth^1,2, Page, Suzanne³, Kaur, Kulvinder^1,2, Vavoulis, Dimitris^1,2,3, Henderson, Shirley³, Gupta, Avinash^2,4, Middleton, Mark R.^2,4, Karydis, Ioannis^2,4, Talbot, Denis C.⁴, Schuh, Anna³, Taylor, Jenny C.^1,2

Source: PLoS ONE. 9/14/2016, Vol. 11 Issue 9, p1-13. 13p.

Subject Terms: *NUCLEOTIDE sequencing, *CIRCULATING tumor DNA, *GENETIC mutation, *BLOOD sampling, *MELANOMA

Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)

Authors: Yamagata, Kazuya, Oda, Naohisa, Kaisaki, Pamela J.

Source: Nature; December 5 1996, Vol. 384, p455-458, 4p

MicroRNA-125a is over-expressed in insulin target tissues in a spontaneous rat model of Type 2 Diabetes

Authors: Fernandez Christina, Camps Carme, Barrett Amy, Kaisaki Pamela J, Wills Quin F, Taylor Jennifer M, Lockstone Helen E, Herrera Blanca M, Ragoussis Jiannis, Gauguier Dominique, McCarthy Mark I, Lindgren Cecilia M

Source: BMC Medical Genomics, Vol 2, Iss 1, p 54 (2009)

Subject Terms: Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1755-8794/2/54; https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/82cf343cb8054eb781381029991cba36

Functional annotations of diabetes nephropathy susceptibility loci through analysis of genome-wide renal gene expression in rat models of diabetes mellitus

Authors: Farrall Martin, Parving Hans-Henrik, Marre Michel, Hadjadj Samy, Groop Per-Henrik, Tarnow Lise, Blancher Christine, Woon Peng Y, Wallace Karin J, Wilder Steven P, Argoud Karène, Kaisaki Pamela J, Hu Yaomin, Cox Roger D, Lathrop Mark, Vionnet Nathalie, Bihoreau Marie-Thérèse, Gauguier Dominique

Source: BMC Medical Genomics, Vol 2, Iss 1, p 41 (2009)

Subject Terms: Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1755-8794/2/41; https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/21e95a36f2b44a5db0b99fe4cf2bca8c

Comparative analysis of methods for gene transcription profiling data derived from different microarray technologies in rat and mouse models of diabetes

Authors: Bihoreau Marie-Thérèse, Ragoussis Jiannis, Salhan Anita, Argoud Karène, Kaisaki Pamela J, Wilder Steven P, Gauguier Dominique

Source: BMC Genomics, Vol 10, Iss 1, p 63 (2009)

Subject Terms: Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2164/10/63; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/12451657ad524595b9723bf9b419c396

Genetic Control of Differential Acetylation in Diabetic Rats.

Authors: Kaisaki, Pamela J.¹, Otto, Georg W.¹, McGouran, Joanna F.², Toubal, Amine^3,4, Argoud, Karène¹, Waller-Evans, Helen¹, Finlay, Clare¹, Caldérari, Sophie^3,4, Bihoreau, Marie-Thérèse⁵, Kessler, Benedikt M.², Gauguier, Dominique^3,4, Mott, Richard¹ richard.mott@well.ox.ac.uk

Source: PLoS ONE. Apr2014, Vol. 9 Issue 4, p1-11. 11p.

Subject Terms: *ACETYLATION, *LABORATORY rats, *PEOPLE with diabetes, *GENETIC transcription, *MASS spectrometry, *SIRTUINS

A High-Resolution Consensus Linkage Map of the Rat, Integrating Radiation Hybrid and Genetic Maps

Authors: Bihoreau, Marie-Thérèse ^{**To whom correspondence and reprint requests should be addressed. Fax: (44) 1865 287 533. E-mail: bihoreau@well.ox.ac.uk.}, Sebag-Montefiore, Liam, Godfrey, Richard F., Wallis, Robert H., Brown, Joanna H., Danoy, Patrick A., Collins, Stephan C., Rouard, Mathias, Kaisaki, Pamela J., Lathrop, Mark, Gauguier, Dominique

Source: In Genomics July 2001 75(1-3):57-69

Detailed Comparative Gene Map of Rat Chromosome 1 with Mouse and Human Genomes and Physical Mapping of an Evolutionary Chromosomal Breakpoint

Authors: Kaisaki, Pamela J., Rouard, Mathias ¹, Danoy, Patrick A.C., Wallis, Robert H., Collins, Stephan C., Rice, Michael, Levy, Elaine R., Lathrop, Mark, Bihoreau, Marie-Thérèse, Gauguier, Dominique

Source: In Genomics 15 February 2000 64(1):32-43

This result is not displayed to guests.
Login for full access.

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Authors: Winter, Helen^1,2,3 (AUTHOR) Helen.Winter@UHBristol.nhs.uk, Kaisaki, Pamela J.¹ (AUTHOR) pkaisaki@well.ox.ac.uk, Harvey, Joe⁴ (AUTHOR) joe@joeharvey.co.uk, Giacopuzzi, Edoardo¹ (AUTHOR) edg1983@well.ox.ac.uk, Ferla, Matteo P.¹ (AUTHOR) matteo@well.ox.ac.uk, Pentony, Melissa M.¹ (AUTHOR) nicantaine@gmail.com, Knight, Samantha J.L.¹ (AUTHOR) jenny@well.ox.ac.uk, Sharma, Ricky A.^2,5 (AUTHOR), Taylor, Jenny C.¹ (AUTHOR), McCullagh, James S.O.⁴ (AUTHOR) james.mccullagh@chem.ox.ac.uk

Source: Cancers. Dec2019, Vol. 11 Issue 12, p1895-1895. 1p.

Subject Terms: *BLOOD plasma, *CANCER patients, *LIQUID chromatography, *MASS spectrometry, *GENETIC mutation, *TUMOR markers, *GENOMICS, *CHOLANGIOCARCINOMA, *CASE-control method, *DESCRIPTIVE statistics, *SEQUENCE analysis, *EARLY detection of cancer, *METABOLOMICS

Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat

Authors: Kaisaki, Pamela J., Bergmann, Carsten, Brown, Joanna H., Outeda, Patricia, Lens, Xosé M., Peters, Dorien J.M., Gretz, Norbert, Gauguier, Dominique, Bihoreau, Marie-Thérèse

Source: In European Journal of Medical Genetics 2008 51(4):325-331

This result is not displayed to guests.
Login for full access.