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Noncoding deletions reveal a gene that is critical for intestinal function.

Autor: Oz-Levi D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Olender T; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Bar-Joseph I; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Zhu Y; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Marek-Yagel D; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Barozzi I; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Department of Surgery and Cancer, Imperial College London, London, UK., Osterwalder M; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Alkelai A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Ruzzo EK; Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA., Han Y; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, USA., Vos ESM; Oncode Institute, Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Reznik-Wolf H; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Hartman C; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schneider Children's Medical Center, Petach Tikva, Israel., Shamir R; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schneider Children's Medical Center, Petach Tikva, Israel., Weiss B; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Shapiro R; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Schneider Children's Medical Center, Petach Tikva, Israel., Pode-Shakked B; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Tatarskyy P; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Milgrom R; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Schvimer M; Department of Pathology, Sheba Medical Center, Ramat Gan, Israel., Barshack I; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pathology, Sheba Medical Center, Ramat Gan, Israel., Imai DM; Comparative Pathology Laboratory, University of California Davis, Davis, CA, USA., Coleman-Derr D; Plant Gene Expression Center, USDA ARS, Albany, CA, USA., Dickel DE; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Nord AS; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Center for Neuroscience, University of California Davis, Davis, CA, USA., Afzal V; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., van Bueren KL; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Barnes RM; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Black BL; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA., Mayhew CN; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kuhar MF; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Pitstick A; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Tekman M; Centre for Nephrology, University College London, London, UK., Stanescu HC; Centre for Nephrology, University College London, London, UK., Wells JM; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Center for Stem Cell and Organoid Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kleta R; Centre for Nephrology, University College London, London, UK., de Laat W; Oncode Institute, Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, the Netherlands., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Pras E; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Visel A; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; School of Natural Sciences, University of California, Merced, CA, USA.; US Department of Energy Joint Genome Institute, Walnut Creek, CA, USA., Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel. Doron.Lancet@weizmann.ac.il., Anikster Y; The Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Yair.Anikster@sheba.health.gov.il.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel. Yair.Anikster@sheba.health.gov.il.; Wohl Institute for Translational Medicine, Sheba Medical Center, Ramat Gan, Israel. Yair.Anikster@sheba.health.gov.il., Pennacchio LA; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA. LAPennacchio@lbl.gov.; US Department of Energy Joint Genome Institute, Walnut Creek, CA, USA. LAPennacchio@lbl.gov.; Comparative Biochemistry Program, University of California Berkeley, Berkeley, CA, USA. LAPennacchio@lbl.gov.

Publikováno v: Nature [Nature] 2019 Jul; Vol. 571 (7763), pp. 107-111. Date of Electronic Publication: 2019 Jun 19.

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.

Autor: Dykes IM; From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom., van Bueren KL; From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom., Ashmore RJ; From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom., Floss T; From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom., Wurst W; From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom., Szumska D; From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom., Bhattacharya S; From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom., Scambler PJ; From the Molecular Medicine Unit, Institute of Child Health, University College London, London, United Kingdom (I.M.D., K.L.v.B., R.J.A., P.J.S.); Institute of Developmental Genetics (T.F., W.W.) and Technische Universität München-Weihenstephan, Institute of Developmental Genetics (T.F., W.W.), Helmholtz Zentrum München, Neuherberg/Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany (W.W.); Munich Cluster for Systems Neurology (SyNergy), Adolf Butenandt Institute, Ludwig-Maximilians-Universität München, Munich, Germany (W.W.); and Departments of Cardiovascular Medicine (D.S., S.B.) and Cardiovascular Medicine (I.M.D.), University of Oxford, Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom. p.scambler@ucl.ac.uk.

Publikováno v: Circulation research [Circ Res] 2014 Jun 20; Vol. 115 (1), pp. 23-31. Date of Electronic Publication: 2014 Apr 18.

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.

Autor: van Bueren KL; Molecular Medicine Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK., Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, Szumska D, Kelly RG, Bhattacharya S, Scambler PJ

Publikováno v: Developmental biology [Dev Biol] 2010 Apr 15; Vol. 340 (2), pp. 369-80. Date of Electronic Publication: 2010 Feb 01.