Title |
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
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Published in |
Journal of Neurodevelopmental Disorders, April 2014
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DOI | 10.1186/1866-1955-6-9 |
Pubmed ID | |
Authors |
Sébastien Chénier, Grace Yoon, Bob Argiropoulos, Julie Lauzon, Rachel Laframboise, Joo Wook Ahn, Caroline Mackie Ogilvie, Anath C Lionel, Christian R Marshall, Andrea K Vaags, Bita Hashemi, Karine Boisvert, Géraldine Mathonnet, Frédérique Tihy, Joyce So, Stephen W Scherer, Emmanuelle Lemyre, Dimitri J Stavropoulos |
Abstract |
The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders. Despite growing evidence, a description of the full phenotypic spectrum of this condition is lacking. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Canada | 1 | 20% |
Ireland | 1 | 20% |
United States | 1 | 20% |
United Kingdom | 1 | 20% |
Unknown | 1 | 20% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 80% |
Scientists | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Netherlands | 1 | <1% |
Czechia | 1 | <1% |
Brazil | 1 | <1% |
Unknown | 153 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 26 | 17% |
Student > Ph. D. Student | 24 | 15% |
Researcher | 21 | 13% |
Student > Bachelor | 19 | 12% |
Student > Doctoral Student | 8 | 5% |
Other | 19 | 12% |
Unknown | 39 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 26 | 17% |
Biochemistry, Genetics and Molecular Biology | 21 | 13% |
Neuroscience | 18 | 12% |
Psychology | 16 | 10% |
Agricultural and Biological Sciences | 14 | 9% |
Other | 14 | 9% |
Unknown | 47 | 30% |