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science & technology (63) 63
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1. Full Text Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
by Girard, Elodie and Eon‐Marchais, Séverine and Olaso, Robert and Renault, Anne‐Laure and Damiola, Francesca and Dondon, Marie‐Gabrielle and Barjhoux, Laure and Goidin, Didier and Meyer, Vincent and Le Gal, Dorothée and Beauvallet, Juana and Mebirouk, Noura and Lonjou, Christine and Coignard, Juliette and Marcou, Morgane and Cavaciuti, Eve and Baulard, Céline and Bihoreau, Marie‐Thérèse and Cohen‐Haguenauer, Odile and Leroux, Dominique and Penet, Clotilde and Fert‐Ferrer, Sandra and Colas, Chrystelle and Frebourg, Thierry and Eisinger, François and Adenis, Claude and Fajac, Anne and Gladieff, Laurence and Tinat, Julie and Floquet, Anne and Chiesa, Jean and Giraud, Sophie and Mortemousque, Isabelle and Soubrier, Florent and Audebert‐Bellanger, Séverine and Limacher, Jean‐Marc and Lasset, Christine and Lejeune‐Dumoulin, Sophie and Dreyfus, Hélène and Bignon, Yves‐Jean and Longy, Michel and Pujol, Pascal and Venat‐Bouvet, Laurence and Bonadona, Valérie and Berthet, Pascaline and Luporsi, Elisabeth and Maugard, Christine M and Noguès, Catherine and Delnatte, Capucine and Fricker, Jean‐Pierre and Gesta, Paul and Faivre, Laurence and Lortholary, Alain and Buecher, Bruno and Caron, Olivier and Gauthier‐Villars, Marion and Coupier, Isabelle and Servant, Nicolas and Boland, Anne and Mazoyer, Sylvie and Deleuze, Jean‐François and Stoppa‐Lyonnet, Dominique and Andrieu, Nadine and Lesueur, Fabienne
International journal of cancer, ISSN 0020-7136, 04/2019, Volume 144, Issue 8, pp. 1962 - 1974
variant | breast cancer | case–control study | exome sequencing | multigene panel testing | Life Sciences & Biomedicine | Oncology | Science & Technology | Risk Assessment - methods | Genetic Predisposition to Disease | Humans | Middle Aged | DNA Repair - genetics | Genetic Testing - methods | Case-Control Studies | Breast Neoplasms - genetics | Aged, 80 and over | Adult | Female | Aged | Breast Neoplasms - diagnosis | Siblings | Oncology, Experimental | Genes | Genomics | Breast cancer | Disease susceptibility | Research | DNA repair | Ovarian cancer | Gene mutations | Analysis | DNA | Genetic research | Genetic aspects | Cancer | BRCA2 protein | Ovarian carcinoma | BRCA1 protein | Gene sequencing | Risk assessment | Genesis | Mutation | Repair | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus | Life Sciences | Cancer Genetics and Epigenetics
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2. Full Text Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons
by Calderari, Sophie and Ria, Massimiliano and Gérard, Christelle and Nogueira, Tatiane C and Villate, Olatz and Collins, Stephan C and Neil, Helen and Gervasi, Nicolas and Hue, Christophe and Suarez-Zamorano, Nicolas and Prado, Cécilia and Cnop, Miriam and Bihoreau, Marie-Thérèse and Kaisaki, Pamela J and Cazier, Jean-Baptiste and Julier, Cécile and Lathrop, Mark and Werner, Michel and Eizirik, Decio L and Gauguier, Dominique
Genomics (San Diego, Calif.), ISSN 0888-7543, 03/2018, Volume 110, Issue 2, pp. 98 - 111
Goto-Kakizaki rat | Quantitative trait locus | Single nucleotide polymorphism | Alzheimer's disease | ChIP sequencing | Diabetes mellitus | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Index Medicus
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3. Full Text The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes
by Bakey, Zeineb and Bihoreau, Marie-Thérèse and Piedagnel, Rémi and Delestré, Laure and Arnould, Catherine and de Villiers, Alexandre d'Hotman and Devuyst, Olivier and Hoffmann, Sigrid and Ronco, Pierre and Gauguier, Dominique and Lelongt, Brigitte
Kidney international, ISSN 0085-2538, 08/2015, Volume 88, Issue 2, pp. 299 - 310
renal pathology | ADPKD | genetic kidney disease | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Kidney - embryology | Kidney - pathology | Humans | Loop of Henle - metabolism | Loop of Henle - pathology | Male | Mutation, Missense | Kidney - metabolism | Polycystic Kidney, Autosomal Dominant - genetics | Kidney Diseases, Cystic - genetics | Kidney Glomerulus - metabolism | Female | Nuclear Proteins - genetics | Kidney Diseases, Cystic - physiopathology | Podocytes - metabolism | Kidney Tubules, Collecting - pathology | Rats | Nuclear Proteins - metabolism | Ankyrin Repeat | Kidney Glomerulus - pathology | Cilia - metabolism | Mice, Inbred C3H | Polycystic Kidney, Autosomal Dominant - metabolism | Carrier Proteins - genetics | Homozygote | Kidney Tubules, Collecting - metabolism | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Mice | RNA-Binding Proteins - metabolism | Index Medicus
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4. Full Text Genomic regulation of type 2 diabetes endophenotypes: Contribution from genetic studies in the Goto-Kakizaki rat
by Bihoreau, Marie-Thérèse and Dumas, Marc-Emmanuel and Lathrop, Mark and Gauguier, Dominique
Biochimie, ISSN 0300-9084, 12/2017, Volume 143, pp. 56 - 65
Transcriptome | Metabolome | QTL | Quantitative trait locus | HDL cholesterol | Beta-cells | SNP | Congenics | Systems biology | Genetics | Single nucleotide polymorphisms | Molecular phenotyping | Endocrine pancreas | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Phenotype | Animals | Rats, Wistar | Diabetes Mellitus, Type 2 - genetics | Diabetes Mellitus, Experimental - genetics | Gene Expression Regulation | Diabetes Mellitus, Type 2 - etiology | Chromosome Mapping | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Rats, Inbred Strains | Quantitative genetics | Type 2 diabetes | Metabolites | Blood cholesterol | Genes | Genomics | Physiological aspects | Genetic research | Genetic aspects | Medical screening | Index Medicus
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5. Full Text Direct quantitative trait locus mapping of mammalian metabolic phenotypes in diabetic and normoglycemic rat models
by Nicholson, Jeremy K and Wallis, Robert H and Baunsgaard, Dorrit and Sidelmann, Ulla Grove and Keun, Hector C and Gauguier, Dominique and Barton, Richard H and D'Amato, Lisa and Dumas, Marc-Emmanuel and Blancher, Christine and Wilder, Steven P and Argoud, Karène and Bihoreau, Marie-Thérèse and Fearnside, Jane F and Scott, James
Nature genetics, ISSN 1061-4036, 05/2007, Volume 39, Issue 5, pp. 666 - 672
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Diabetes. Impaired glucose tolerance | Biological and medical sciences | Endocrinopathies | Etiopathogenesis. Screening. Investigations. Target tissue resistance | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Endocrine pancreas. Apud cells (diseases) | Diabetes Mellitus - genetics | Benzoates - chemistry | Biomarkers - analysis | Genome - genetics | Molecular Sequence Data | Rats | Sequence Analysis, DNA | Lod Score | Glucuronosyltransferase - genetics | Phenotype | Animals | Base Sequence | Nuclear Magnetic Resonance, Biomolecular | Molecular Structure | Quantitative Trait Loci | Metabolism - genetics | Genetic Linkage | Quantitative trait loci | Physiological aspects | Research | Genetic variation | Genotype & phenotype | Genetic markers | Diabetes | Genomics | Rodents | Proteomics | Index Medicus
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6. Full Text Inhibition of comt with tolcapone slows progression of polycystic kidney disease in the more severely affected PKD/Mhm (cy/+) substrain of the hannover sprague-dawley rat
by Boehn, Susanne N.E and Spahn, Sonja and Neudecker, Sabine and Keppler, Andrea and Bihoreau, Marie-Thérèse and Kränzlin, Bettina and Pandey, Priyanka and Hoffmann, Sigrid C and Li, Li and Torres, Vicente E and Gröne, Hermann-Josef and Gretz, Norbert
Nephrology, dialysis, transplantation, ISSN 0931-0509, 08/2013, Volume 28, Issue 8, pp. 2045 - 2058
Catechol-O-methyltransferase | Gene expression profiling | Modifier | Tolcapone | Polycystic kidney disease | Transplantation | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Biomarkers - metabolism | Oligonucleotide Array Sequence Analysis | Apoptosis - drug effects | Humans | RNA, Messenger - genetics | Enzyme Inhibitors - pharmacology | Benzophenones - pharmacology | Rats | Male | Gene Expression Profiling | Polycystic Kidney Diseases - drug therapy | Reverse Transcriptase Polymerase Chain Reaction | Rats, Sprague-Dawley | Blotting, Western | Disease Progression | Immunoenzyme Techniques | Animals | Polycystic Kidney Diseases - pathology | Nitrophenols - pharmacology | Female | Catechol O-Methyltransferase Inhibitors | Cell Proliferation - drug effects | Real-Time Polymerase Chain Reaction | Disease Models, Animal | Index Medicus | catechol-O-methyltransferase | tolcapone | gene expression profiling | polycystic kidney disease | Original | modifier
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7. Full Text SNP and haplotype mapping for genetic analysis in the rat
by Saar, K and Beck, A and Bihoreau, M and Birney, E and Brocklebank, D and Chen, Y and Cuppen, E and Demonchy, S and Dopazo, J and Flicek, P and Foglio, M and Fujiyama, A and Gut, I.G and Gauguier, D and Guigo, R and Guryev, V and Heinig, M and Hummel, O and Jahn, N and Klages, S and Kren, V and Kube, M and Kuhl, H and Kuramoto, T and Kuroki, Y and Lechner, D and Lee, Y.A and Lopez-Bigas, N and Lathrop, G.M and Mashimo, T and Medina, I and Mott, R and Patone, G and Perrier-Cornet, J.A and Platzer, M and Pravenec, M and Reinhardt, R and Sakaki, Y and Schilhabel, M and Schulz, H and Serikawa, T and Shikhagaie, M and Tatsumoto, S and Taudien, S and Toyoda, A and Voigt, B and Zelenika, D and Zimdahl, H and Hubner, N and STAR Consortium and The STAR Consortium
Nature genetics, ISSN 1061-4036, 2008, Volume 40, Issue 5, pp. 560 - 566
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Animals | Rats, Inbred Strains - genetics | Recombination, Genetic | Databases, Genetic | Chromosome Mapping | Polymorphism, Single Nucleotide | Phylogeny | Genome | Quantitative Trait Loci | Rats - genetics | Linkage Disequilibrium | Chromosome mapping | Genetic aspects | Rats as laboratory animals | Single nucleotide polymorphisms | Identification and classification | Methods | Studies | Genetic disorders | Disease | Genomics | Rodents | Science | Genetics | Inbreeding | Amino acids | Laboratory animals | Drug resistance | Index Medicus | Genètica | Rates | Haplotip | Locus de caràcters quantitatius | Polimorfisme de nucleòtids simples | Bases de dades
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8. Full Text Aryl Hydrocarbon Receptor Nuclear Translocator-Like (BMAL1) Is Associated with Susceptibility to Hypertension and Type 2 Diabetes
by Peng Y. Woon and Pamela J. Kaisaki and José Bragança and Marie-Thérèse Bihoreau and Jonathan C. Levy and Martin Farrall and Dominique Gauguier
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 9/2007, Volume 104, Issue 36, pp. 14412 - 14417
Hypertension | Haplotypes | Plasmids | Genes | Genomics | Blood pressure | Gene expression regulation | Promoter regions | Type 2 diabetes mellitus | Human genetics | Comparative genomics | SNP | Sequence variation | Molecular clock | Genetic polymorphism | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Blood Pressure | Diabetes Mellitus, Type 2 - genetics | Humans | Diabetes Mellitus, Type 2 - metabolism | Promoter Regions, Genetic - genetics | Basic Helix-Loop-Helix Transcription Factors - metabolism | Base Sequence | Hypertension - genetics | Diabetes Mellitus, Type 2 - complications | Rats, Inbred SHR | ARNTL Transcription Factors | Genetic Predisposition to Disease | Basic Helix-Loop-Helix Transcription Factors - genetics | GATA4 Transcription Factor - metabolism | Risk Factors | Rats | GATA4 Transcription Factor - genetics | Genotype | Hypertension - physiopathology | Hypertension - metabolism | Animals | Hypertension - complications | Polymorphism, Single Nucleotide - genetics | Quality of Life | Diabetes Mellitus, Type 2 - pathology | Transcription, Genetic - genetics | Type 2 diabetes | Evaluation | Molecular clock (Genetics) | Physiological aspects | Genetic aspects | Single nucleotide polymorphisms | Muscle proteins | Risk factors | Dopamine receptors | Proteins | Rodents | Genetics | Circadian rhythm | Diabetes | Comparative analysis | Index Medicus | Biological Sciences | sequence variation | molecular clock | genetic polymorphism | comparative genomics
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