Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree-Reference-Cited by-同舟云学术

Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree

Published:2020-12-22 Issue:2 Volume:144 Page:e19-e19
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Vegas Nancy¹,Low Karen²,Mak Christopher C Y³,Fung Jasmine L F³,Hing Anne V⁴⁵,Chung Brian H Y³,Doherty Dan⁶⁷,Amiel Jeanne¹⁸,Gordon Christopher T¹^ORCID

Affiliation:

1. Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, 75015 Paris, France

2. Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Trust, Bristol BS2 8EJ, UK

3. Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China

4. Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA

5. Seattle Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA

6. Department of Pediatrics, University of Washington, Seattle, WA 98195, USA

7. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98101, USA

8. Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), 75015 Paris, France

Funder

Agence Nationale de la Recherche [“Investissements d’avenir” program

MSDAvenir

The Society for the Relief of Disabled Children

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/144/2/e19/36454491/awaa432.pdf

Reference8 articles.

1. Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene;Beck;Am J Med Genet A,2015

2. Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate;Breckpot;Eur J Hum Genet,2016

3. The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice;Liu;Development,2008

4. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis;Mak;Brain,2020

5. Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton;Meester-Smoor;Mol Cell Biol,2005

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