C Shoubridge
Overview
Explore the profile of C Shoubridge including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
197
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0
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Recent Articles
1.
Lee K, Ireland K, Bleeze M, Shoubridge C
Neuroscience
. 2017 Jun;
357:220-231.
PMID: 28627419
The Aristaless-related homeobox gene (ARX) is indispensable for interneuron development. Patients with ARX polyalanine expansion mutations of the first two tracts (namely PA1 and PA2) suffer from intellectual disability of...
2.
Hinze S, Jackson M, Lie S, Jolly L, Field M, Barry S, et al.
Transl Psychiatry
. 2017 May;
7(5):e1110.
PMID: 28463240
There is considerable genetic and phenotypic heterogeneity associated with intellectual disability (ID), specific learning disabilities, attention-deficit hyperactivity disorder, autism and epilepsy. The intelligence quotient (IQ) motif and SEC7 domain containing...
3.
Nguyen L, Jolly L, Shoubridge C, Chan W, Huang L, Laumonnier F, et al.
Mol Psychiatry
. 2011 Dec;
17(11):1103-15.
PMID: 22182939
The nonsense-mediated mRNA decay (NMD) pathway was originally discovered by virtue of its ability to rapidly degrade aberrant mRNAs with premature termination codons. More recently, it was shown that NMD...
4.
Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, et al.
Clin Genet
. 2011 Apr;
80(6):510-22.
PMID: 21496008
ARX mutations cause a diverse spectrum of human disorders, ranging from severe brain and genital malformations to non-syndromic intellectual disability (ID). ARX is a transcription factor with multiple domains that...
5.
Laumonnier F, Shoubridge C, Antar C, Nguyen L, Van Esch H, Kleefstra T, et al.
Mol Psychiatry
. 2009 Feb;
15(7):767-76.
PMID: 19238151
Mutations in the UPF3B gene, which encodes a protein involved in nonsense-mediated mRNA decay, have recently been described in four families with specific (Lujan-Fryns and FG syndromes), nonspecific X-linked mental...
6.
McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Colasante G, Shoubridge C, et al.
Neuroscience
. 2007 Mar;
146(1):236-47.
PMID: 17331656
Aristaless-related homeobox gene (ARX) is an important paired-type homeobox gene involved in the development of human brain. The ARX gene mutations are a significant contributor to various forms of X-chromosome-linked...