Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence-Reference-Cited by-同舟云学术

Identification of Novel Craniofacial Regulatory Domains Located far Upstream ofSOX9and Disrupted in Pierre Robin Sequence

Published:2014-07-17 Issue:8 Volume:35 Page:1011-1020
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gordon Christopher T.¹,Attanasio Catia²³,Bhatia Shipra⁴,Benko Sabina¹⁵,Ansari Morad⁴,Tan Tiong Y.⁶,Munnich Arnold¹⁷,Pennacchio Len A.²⁸,Abadie Véronique⁹,Temple I. Karen¹⁰,Goldenberg Alice¹¹,van Heyningen Veronica⁴,Amiel Jeanne¹⁷,FitzPatrick David⁴,Kleinjan Dirk A.⁴,Visel Axel²⁸¹²,Lyonnet Stanislas¹⁷

Affiliation:

1. Université Paris Descartes-Sorbonne Paris Cité; Institut Imagine, INSERM U1163; Paris France

2. Genomics Division; Lawrence Berkeley National Laboratory; Berkeley California

3. Center for Integrative Genomics, Faculty of Biology and Medicine; University of Lausanne; Lausanne Switzerland

4. MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh UK

5. Department of Structural and Chemical Biology; Icahn School of Medicine at Mount Sinai; New York City New York

6. Victorian Clinical Genetics Services, Murdoch Children's Research Institute; Royal Children's Hospital; Melbourne Australia

7. Hôpital Necker-Enfants Malades AP-HP; Paris France

8. U.S. Department of Energy Joint Genome Institute; Walnut Creek California

9. Service de Pédiatrie Générale, Université Paris Descartes; Hôpital Necker-Enfants Malades; Paris France

10. Human Genetics and Genomic Medicine, Faculty of Medicine; University of Southampton; Southampton UK

11. Service de Génétique Médicale; CHU Charles Nicolle; Rouen France

12. School of Natural Sciences; University of California; Merced California

Funder

Agence Nationale de la Recherche

National Health and Medical Research Council

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22606/fullpdf

Reference45 articles.

1. Fine tuning of craniofacial morphology by distant-acting enhancers;Attanasio;Science,2013

2. Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern;Bagheri-Fam;Dev Biol,2006

3. FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate;Bahuau;Clin Genet,2002

4. Sox9 is required for invagination of the otic placode in mice;Barrionuevo;Dev Biol,2008

5. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence;Benko;Nat Genet,2009

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