Studies of the lethargic (lh/lh) mouse model of absence seizures: regulatory mechanisms and identification of the lh gene

Autor: Da, Hosford, Fh, Lin, Wang Y, Stephen Caddick, Rees M, Nj, Parkinson, Barclay J, Rd, Cox, Rm, Gardiner, Denton P, Mf, Seldin, Chen B

Publikováno v: Europe PubMed Central

To understand the cellular and molecular mechanisms that underlie generalized absence seizures sufficiently well to design rational, efficacious new therapies for patients, it is necessary to turn to animal models to gain insights into these mechanis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ca2527654cb7c3a103b324ecc27e882a
https://pubmed.ncbi.nlm.nih.gov/10514818

Loss of RREB1 reduces adipogenesis and improves insulin sensitivity in mouse and human adipocytes.

Autor: Yu GZ; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK., Krentz NAJ; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Division of Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada., Bentley L; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK.; Mary Lyon Centre at MRC Harwell, Harwell Campus, Oxfordshire, UK., Zhao M; Department of Pathology, Stanford University, Stanford, CA, United States.; Stanford Diabetes Research Center, Stanford University, Stanford, CA, USA., Paphiti K; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK., Sun H; Division of Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Honecker J; Else Kröner-Fresenius-Center for Nutritional Medicine, Chair of Nutritional Medicine, School of Life Science, Technical University of Munich, 85354 Freising, Germany., Nygård M; Functional Genomics & Metabolism Research Unit, Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense, Denmark., Dashti H; Broad Institute of MIT and Harvard, Novo Nordisk Foundation Center for Genomic Mechanisms of Disease & Type 2 Diabetes Systems Genomics Initiative, Cambridge, MA, USA., Bai Y; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK.; MRC Laboratory of Molecular Biology, Francis Crick Ave, Cambridge, CB2 0QH., Reid M; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK., Thaman S; Division of Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Wabitsch M; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Ulm, Ulm, Germany., Rajesh V; Division of Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Yang J; Division of Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Mattis KK; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Abaitua F; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Casero R; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK., Hauner H; Else Kröner-Fresenius-Center for Nutritional Medicine, Chair of Nutritional Medicine, School of Life Science, Technical University of Munich, 85354 Freising, Germany.; Institute for Nutritional Medicine, School of Medicine and Health, Technical University of Munich, Georg-Brauchle-Ring 62, Munich 80992, Germany., Knowles JW; Stanford Diabetes Research Center, Stanford University, Stanford, CA, USA.; Division of Cardiovascular Medicine, Department of Medicine and Cardiovascular Institute, Stanford University School of Medicine, Stanford, California., Wu JY; Division of Endocrinology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Mandrup S; Functional Genomics & Metabolism Research Unit, Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense, Denmark., Claussnitzer M; Broad Institute of MIT and Harvard, Novo Nordisk Foundation Center for Genomic Mechanisms of Disease & Type 2 Diabetes Systems Genomics Initiative, Cambridge, MA, USA.; Center for Genomic Medicine and Endocrine Division, Massachusetts General Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Harvard University, Boston, Massachusetts, USA., Svensson KJ; Department of Pathology, Stanford University, Stanford, CA, United States.; Stanford Diabetes Research Center, Stanford University, Stanford, CA, USA., Cox RD; MRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, UK., Gloyn AL; Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Division of Endocrinology, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Diabetes Research Center, Stanford University, Stanford, CA, USA.; Lead Contact.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jul 31. Date of Electronic Publication: 2024 Jul 31.

Cleft palate and minor metabolic disturbances in a mouse global Arl15 gene knockout.

Autor: Bai Y; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Bentley L; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Ma C; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., Naveenan N; MRC London Institute of Medical Sciences, London, UK., Cleak J; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Wu Y; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Simon MM; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Westerberg H; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Cañas RC; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Horner N; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Pandey R; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Paphiti K; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Schulze U; MRC Laboratory of Molecular Biology, Cambridge Biomedical Campus, Cambridge, UK., Mianné J; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Hough T; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., Teboul L; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., Cox RD; Mammalian Genetics Unit and Mary Lyon Centre, MRC Harwell Institute, Didcot, Oxon, UK.

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2023 Nov; Vol. 37 (11), pp. e23211.

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X ( NFIX ) Gene Has Phenotypic Features of Marshall-Smith Syndrome.

Autor: Kooblall KG; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK., Stevenson M; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK., Stewart M; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Harris L; The Francis Crick Institute London UK., Zalucki O; The School of Biomedical Sciences and The Queensland Brain Institute The University of Queensland Brisbane Australia., Dewhurst H; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK., Butterfield N; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK., Leng H; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK., Hough TA; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Ma D; Department of Internal Medicine Wake Forest University School of Medicine Winston-Salem NC USA., Siow B; The Francis Crick Institute London UK., Potter P; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Cox RD; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Brown SDM; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Horwood N; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK., Wright B; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK., Lockstone H; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK., Buck D; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK., Vincent TL; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK., Hannan FM; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.; Nuffield Department of Women's and Reproductive Health University of Oxford Oxford UK., Bassett JHD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK., Williams GR; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK., Lines KE; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK., Piper M; The School of Biomedical Sciences and The Queensland Brain Institute The University of Queensland Brisbane Australia., Wells S; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Teboul L; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Hennekam RC; Department of Pediatrics, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands., Thakker RV; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.

Publikováno v: JBMR plus [JBMR Plus] 2023 Mar 30; Vol. 7 (6), pp. e10739. Date of Electronic Publication: 2023 Mar 30 (Print Publication: 2023).

AKR1D1 knockout mice develop a sex-dependent metabolic phenotype.

Autor: Gathercole LL; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK.; Department of Biological and Medical Sciences, Oxford Brookes University, Oxford, UK., Nikolaou N; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK., Harris SE; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK., Arvaniti A; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK.; Department of Biological and Medical Sciences, Oxford Brookes University, Oxford, UK., Poolman TM; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK., Hazlehurst JM; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK.; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Kratschmar DV; Swiss Centre for Applied Human Toxicology and Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland., Todorčević M; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK., Moolla A; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK., Dempster N; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK., Pink RC; Department of Biological and Medical Sciences, Oxford Brookes University, Oxford, UK., Saikali MF; Department of Pharmaceutical Sciences, Leslie Dan Faculty of Pharmacy, University of Toronto, Toronto, Ontario, Canada., Bentley L; Mammalian Genetics Unit, Medical Research Council Harwell, Oxford, UK., Penning TM; Center of Excellence in Environmental Toxicology, Department of Systems Pharmacology & Translational Therapeutics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Ohlsson C; Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Cummins CL; Department of Pharmaceutical Sciences, Leslie Dan Faculty of Pharmacy, University of Toronto, Toronto, Ontario, Canada., Poutanen M; Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Institute of Biomedicine, Research Centre for Integrative Physiology and Pharmacology, University of Turku, Turku, Finland., Odermatt A; Swiss Centre for Applied Human Toxicology and Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland., Cox RD; Mammalian Genetics Unit, Medical Research Council Harwell, Oxford, UK., Tomlinson JW; Oxford Centre for Diabetes, Endocrinology and Metabolism, NIHR Oxford Biomedical Research Centre, University of Oxford, Churchill Hospital, Oxford, UK.

Publikováno v: The Journal of endocrinology [J Endocrinol] 2022 Apr 13; Vol. 253 (3), pp. 97-113. Date of Electronic Publication: 2022 Apr 13.