Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome-Reference-Cited by-同舟云学术

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Published:2015-08-03 Issue:11 Volume:36 Page:1080-1087
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Cordeddu Viviana¹²,Yin Jiani C.³,Gunnarsson Cecilia⁴,Virtanen Carl³,Drunat Séverine⁵,Lepri Francesca⁶,De Luca Alessandro⁷,Rossi Cesare⁸,Ciolfi Andrea¹,Pugh Trevor J.³,Bruselles Alessandro¹,Priest James R.⁹¹⁰,Pennacchio Len A.¹¹¹²,Lu Zhibin³,Danesh Arnavaz³,Quevedo Rene³,Hamid Alaa³,Martinelli Simone¹,Pantaleoni Francesca¹,Gnazzo Maria⁶,Daniele Paola⁷,Lissewski Christina¹³,Bocchinfuso Gianfranco¹⁴,Stella Lorenzo¹⁴,Odent Sylvie¹⁵,Philip Nicole¹⁶,Faivre Laurence¹⁷,Vlckova Marketa¹⁸,Seemanova Eva¹⁸,Digilio Cristina⁶,Zenker Martin¹³,Zampino Giuseppe¹⁹,Verloes Alain⁵,Dallapiccola Bruno⁶,Roberts Amy E.²⁰,Cavé Hélène⁵²¹,Gelb Bruce D.²²,Neel Benjamin G.³²³,Tartaglia Marco¹⁶

Affiliation:

1. Dipartimento di Ematologia, Oncologia e Medicina Molecolare; Istituto Superiore di Sanità; Rome 00161 Italy

2. Dipartimento di Scienze Psicologiche, della Salute e del Territorio; Università degli Studi “G. d'Annunzio”; Chieti-Pescara 66100 Italy

3. Princess Margaret Cancer Centre; University Health Network and Department of Medical Biophysics, University of Toronto; Toronto, Ontario ON M5S Canada

4. Department of Clinical and Experimental Medicine, Division of Clinical Genetics, Faculty of Health Sciences; Linköping University; Linköping 581 83 Sweden

5. Département de Génétique; Hôpital Robert Debré; Paris 75019 France

6. Bambino Gesù Children's Hospital; Istituto di Ricovero e Cura a Carattere Scientifico; Rome 00165 Italy

7. IRCCS-Casa Sollievo della Sofferenza Hospital; Mendel Institute; Rome 00161 Italy

8. UO Genetica Medica; Policlinico S.Orsola-Malpighi; Bologna 40138 Italy

9. Division of Pediatric Cardiology; Stanford University School of Medicine, Stanford University; Stanford California 94305

10. Child Health Research Institute; Stanford Cardiovascular Institute, Stanford University School of Medicine; Stanford California 94305

11. Genomics Division; Lawrence Berkeley National Laboratory; Berkeley California 94720

12. US Department of Energy Joint Genome Institute; Walnut Creek California 94598

13. Institute of Human Genetics; University Hospital of Magdeburg, Otto-von-Guericke-University; Magdeburg 39106 Germany

14. Dipartimento di Scienze e Tecnologie Chimiche; Università di Roma ‘Tor Vergata’; Rome 00133 Italy

15. Service de Génétique Clinique; Hôpital SUD; Rennes 35200 France

16. Département de Génétique Médicale; Hôpital d'Enfants de la Timone; Marseille 13385 France

17. Centre de Génétique; Hôpital d'Enfants; Dijon 21000 France

18. Department of Biology and Medical Genetics; Charles University 2nd Faculty of Medicine and University Hospital Motol; Prague 150 06 Czech Republic

19. Istituto di Pediatria; Università Cattolica del Sacro Cuore; Rome 00168 Italy

20. Department of Cardiology and Division of Genetics; Boston Children's Hospital; Boston Massachusetts 02115

21. INSERM UMR_S1131; Institut Universitaire d'Hématologie, Université Paris Diderot; Paris-Sorbonne-Cité, Paris 75205 France

22. The Mindich Child Health and Development Institute, and the Departments of Pediatrics and Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York New York 10029

23. The Laura and Isaac Perlmutter Cancer Center; New York University School of Medicine; New York New York 10016

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22834/fullpdf

Reference32 articles.

1. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;Am J Hum Genet,2013

2. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling;Arnold;Bioinformatics,2006