Publications by authors named "Elena G Bochukova"

21Publications

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.

Cell Rep 2018 03;22(13):3401-3408

University of Cambridge Metabolic Research Laboratories and NIHR Cambridge Biomedical Research Centre, Wellcome Trust-MRC Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK. Electronic address:

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March 2018

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1.

Endocrinology 2014 Sep 27;155(9):3219-26. Epub 2014 Jun 27.

University of Cambridge Metabolic Research Laboratories and National Institute for Health Research Cambridge Biomedical Research Centre (L.R.P., J.M.K., E.H., E.G.B., S.G., S.Sa., S.O., I.B., I.S.F.), Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, CB2 0QQ United Kingdom; Graduate Program in Cellular and Molecular Biology (R.J., C.C.-S.), Department of Molecular and Integrative Physiology (M.E.D., H.-W.S., L.S.A., J.M.C., L.R., C.C.-S.), and Division of Metabolism, Endocrinology, and Diabetes (C.C.-S.), Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan 48109-5622; Joslin Diabetes Center and Department of Medicine (S.Sh.), Harvard University, Boston, Massachusetts 02115; and Wellcome Trust Sanger Institute (I.B.), Hinxton, CB10 1SA United Kingdom.

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September 2014

Human SH2B1 mutations are associated with maladaptive behaviors and obesity.

J Clin Invest 2012 Dec 19;122(12):4732-6. Epub 2012 Nov 19.

Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, Michigan 48109-5622, USA.

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December 2012

Large, rare chromosomal deletions associated with severe early-onset obesity.

Nature 2010 Feb 6;463(7281):666-70. Epub 2009 Dec 6.

University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

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February 2010

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

J Med Genet 2010 Dec 15;47(12):803-8. Epub 2009 Sep 15.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.

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December 2010

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Hum Mol Genet 2006 Apr 15;15(8):1319-28. Epub 2006 Mar 15.

Department of Biochemistry and Molecular Biology, Norris Cancer Hospital, University of Southern Califoirnia Keck School of Medicine, 1441 Eastlake Avenue, Los Angeles, CA 90089-0176, USA.

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April 2006

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Proc Natl Acad Sci U S A 2004 Jun 27;101(23):8652-7. Epub 2004 May 27.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom.

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June 2004

Genomic studies of gene expression: regulation of the Wilson disease gene.

Genomics 2003 Jun;81(6):531-42

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.

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June 2003