Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
By K. Kitamura, M. Yanazawa, N. Sugiyama, Hirohito Miura, A. Iizuka-Kogo, Masatomo Kusaka, K. Omichi, R. Suzuki, Yuko Kato-Fukui, Kyoko Kamiirisa and 11 more. Nature Genetics, 2002
692 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/73a8e594e71c2977e82139688ec683fa7b517d38
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Genetics
In Molecular Biology
Citations in the corpus
- Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity (2007, neutral): “In this study, only one patient had complete AgCC and the rest (35/36) had either diffuse hypoplasia or thinning of the posterior body of the corpus callosum 46 .”
- Opposing actions of Arx and Pax4 in endocrine pancreas development. (2003, background): “Arx-deficient mice exhibit severe hypoglycemia prior to death Arx loss-of-function mutant mice have been described previously (Kitamura et al. 2002).”
- The origin and specification of cortical interneurons (2006, background): “95 ), results in the abnormal development of interneurons in mice and severe infantile seizures in human”
- Interneuron dysfunction in psychiatric disorders (2012, background): “Indeed, severe GABAergic deficits can cause pathological hyperexcitabilit”
- Cell migration in the forebrain. (2003, background): “…in humans, including the X-linked lissencephaly with abnormal genitalia syndrome, the X-linked infantile spasm syndrome, and a less severe epileptic syndrome, all of which appear to arise from different types of mutations inArx (Bienvenu et al. 2002, Kitamura et al. 2002, Stromme et al. 2002).”