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Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.
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A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.
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本文引用的文献
1
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.
EMBO Mol Med. 2014 Aug;6(8):1003-15. doi: 10.15252/emmm.201404044.
2
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Eur J Hum Genet. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1.
3
The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice.
PLoS One. 2012;7(10):e47358. doi: 10.1371/journal.pone.0047358. Epub 2012 Oct 15.
4
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.
5
Structural and histone binding ability characterizations of human PWWP domains.
PLoS One. 2011;6(6):e18919. doi: 10.1371/journal.pone.0018919. Epub 2011 Jun 20.
6
The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.
PLoS One. 2010 Aug 6;5(8):e11982. doi: 10.1371/journal.pone.0011982.
7
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
Eur J Hum Genet. 2010 Apr;18(4):436-41. doi: 10.1038/ejhg.2009.199. Epub 2009 Nov 11.
8
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7.
9
The story of Rett syndrome: from clinic to neurobiology.
Neuron. 2007 Nov 8;56(3):422-37. doi: 10.1016/j.neuron.2007.10.001.
10
Genomic DNA methylation: the mark and its mediators.
Trends Biochem Sci. 2006 Feb;31(2):89-97. doi: 10.1016/j.tibs.2005.12.008. Epub 2006 Jan 5.
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