Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition-Reference-Cited by-同舟云学术

Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition

Published:2018-11-19 Issue:12 Volume:21 Page:1717-1727
ISSN:1097-6256
Container-title:Nature Neuroscience
language:en
Short-container-title:Nat Neurosci

Author:

Deliu Elena^ORCID,Arecco Niccolò^ORCID,Morandell Jasmin,Dotter Christoph P.,Contreras Ximena,Girardot Charles^ORCID,Käsper Eva-Lotta^ORCID,Kozlova Alena,Kishi Kasumi,Chiaradia Ilaria^ORCID,Noh Kyung-Min^ORCID,Novarino Gaia^ORCID

Publisher

Springer Science and Business Media LLC

Subject

General Neuroscience

Link

http://www.nature.com/articles/s41593-018-0266-2.pdf

Reference81 articles.

1. Mefford, H. C., Batshaw, M. L. & Hoffman, E. P. Genomics, intellectual disability, and autism. N. Engl. J. Med. 366, 733–743 (2012).

2. Rauch, A. et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380, 1674–1682 (2012).

3. Najmabadi, H. et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478, 57–63 (2011).

4. Dillon, S. C., Zhang, X., Trievel, R. C. & Cheng, X. The SET-domain protein superfamily: protein lysine methyltransferases. Genome Biol. 6, 227 (2005).

5. Grozeva, D. et al. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. Am. J. Hum. Genet. 94, 618–624 (2014).

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