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

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

Published:2020-12-22 Issue:2 Volume:144 Page:e18-e18
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Shu Li¹²³,He Dinghua⁴,Wu Dan⁴,Peng Ying¹,Xi Hui¹,Mao Xiao¹²^ORCID,Wang Hua¹²

Affiliation:

1. Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China

2. National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China

3. Department of School of Life Sciences, Central South University, Changsha, China

4. Department of Otorhinolaryngology, Maternal and Child Health Hospital of Hunan Province, Changsha, China

Funder

National Natural Science Foundation of China

Hunan Provincial Major Science and Technology Project

China Postdoctoral Science Foundation

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/144/2/e18/36454436/awaa431.pdf

Reference10 articles.

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

2. Translocation (12; 22) (p13; q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11;Buijs;Oncogene,1995

3. Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature;Davidson;BMC Med Genet,2012

4. Cell fate decisions in malignant hematopoiesis: leukemia phenotype is determined by distinct functional domains of the MN1 oncogene;Lai;PLoS One,2014

5. Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma;Lekanne Deprez;Oncogene,1995

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3. MN1 Neurodevelopmental Disease-Atypical Phenotype Due to a Novel Frameshift Variant in the MN1 Gene;Frontiers in Molecular Neuroscience;2021-12-16

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5. Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree;Brain;2020-12-22