Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

Autor: Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR, Wilson DI, Mital S, Hurles ME

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 Mar 03; Vol. 98 (3), pp. 592. Date of Electronic Publication: 2016 Mar 03.

Rare variants in NR2F2 cause congenital heart defects in humans.

Autor: Al Turki S; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK; Department of Pathology, King Abdulaziz Medical City, P.O. Box 22490, Riyadh 11426, Saudi Arabia., Manickaraj AK; Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Mercer CL; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK., Gerety SS; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Hitz MP; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Lindsay S; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., D'Alessandro LC; Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Swaminathan GJ; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Bentham J; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02459, USA., Arndt AK; Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School, and Harvard Stem Cell Institute, Boston, MA 02115, USA; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Louw J, Low J; Centre for Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Pediatric Cardiology Unit, University Hospital Leuven, 3000 Leuven, Belgium., Breckpot J; Centre for Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium., Gewillig M; Pediatric Cardiology Unit, University Hospital Leuven, 3000 Leuven, Belgium., Thienpont B; Centre for Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium., Abdul-Khaliq H; Department of Pediatric Cardiology, Saarland University Hospital, 66421 Homburg, Germany; Competence Network for Congenital Heart Defects., Harnack C; Experimental and Clinical Research Center (ECRC), Charité Medical Faculty and Max-Delbruck-Center for Molecular Medicine, 13125 Berlin, Germany., Hoff K; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany; Institute of Human Genetics, Christian-Albrechts University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Kramer HH; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany; Competence Network for Congenital Heart Defects., Schubert S; Competence Network for Congenital Heart Defects; Department of Congenital Heart Disease and Pediatric Cardiology, Deutsches Herzzentrum Berlin, 13353 Berlin, Germany., Siebert R; Institute of Human Genetics, Christian-Albrechts University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, 24105 Kiel, Germany., Toka O; Competence Network for Congenital Heart Defects; Department of Pediatric Cardiology, Children's Hospital, Friedrich-Alexander University, 91054 Erlangen, Germany., Cosgrove C; Radcliffe Department of Medicine & Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Watkins H; Radcliffe Department of Medicine & Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Lucassen AM; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK., O'Kelly IM; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK., Salmon AP; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK., Bu'lock FA; East Midlands Congenital Heart Centre, University Hospitals of Leicester NHS Trust, Leicester LE3 9QP, UK., Granados-Riveron J; School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK., Setchfield K; School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK., Thornborough C; East Midlands Congenital Heart Centre, University Hospitals of Leicester NHS Trust, Leicester LE3 9QP, UK., Brook JD; School of Life Sciences, University of Nottingham, Nottingham NG7 2UH, UK., Mulder B; Heart Center, Academic Medical Center, 1105AZ Amsterdam, the Netherlands., Klaassen S; Competence Network for Congenital Heart Defects; Experimental and Clinical Research Center (ECRC), Charité Medical Faculty and Max-Delbruck-Center for Molecular Medicine, 13125 Berlin, Germany; Department of Pediatric Cardiology, Charité University Medicine Berlin,13353 Berlin, Germany., Bhattacharya S; Radcliffe Department of Medicine & Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Devriendt K; Centre for Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium., Fitzpatrick DF; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Wilson DI; Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK., Mital S; Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: seema.mital@sickkids.ca., Hurles ME; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. Electronic address: meh@sanger.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2014 Apr 03; Vol. 94 (4), pp. 574-85.

RAGE-mediated interstitial fibrosis in neonatal obstructive nephropathy is independent of NF-κB activation.

Autor: Gasparitsch M; Department of Pediatrics, Ludwig-Maximilians-University, Munich, Germany., Arndt AK, Pawlitschek F, Oberle S, Keller U, Kasper M, Bierhaus A, Schaefer F, Weber LT, Lange-Sperandio B

Publikováno v: Kidney international [Kidney Int] 2013 Nov; Vol. 84 (5), pp. 911-9. Date of Electronic Publication: 2013 May 15.

Staged surgical palliation in identical twins with concordance for hypoplastic left heart syndrome (HLHS).

Autor: Arndt AK; Klinik für angeborene Herzfehler und Kinderkardiologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany. annekarinarndt@googlemail.com, Petko C, Scheewe J, Kramer HH

Publikováno v: Klinische Padiatrie [Klin Padiatr] 2012 Jul; Vol. 224 (4), pp. 268-9. Date of Electronic Publication: 2012 Jun 01.