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dc.contributor.authorNewbury, D. F.
dc.contributor.authorWinchester, Laura
dc.contributor.authorAddis, L.
dc.contributor.authorParacchini, Silvia
dc.contributor.authorBuckingham, Lyn-Louise
dc.contributor.authorClark, Ann
dc.contributor.authorCohen, W.
dc.contributor.authorCowie, H.
dc.contributor.authorDworzynski, Katharina
dc.contributor.authorEveritt, Andrea
dc.contributor.authorGoodyer, I. M.
dc.contributor.authorHennessy, E.
dc.contributor.authorKindley, A. D.
dc.contributor.authorMiller, Laura L.
dc.contributor.authorNasir, J.
dc.contributor.authorO'Hare, Anne
dc.contributor.authorShaw, D.
dc.contributor.authorSimkin, Z.
dc.contributor.authorSimonoff, E.
dc.contributor.authorSlonims, V.
dc.contributor.authorWatson, Jocelynne
dc.contributor.authorRagoussis, Jiannis
dc.contributor.authorFisher, S. E.
dc.contributor.authorSeckl, J.
dc.contributor.authorHelms, P. J.
dc.contributor.authorBolton, P. F.
dc.contributor.authorPickles, A.
dc.contributor.authorConti-Ramsden, G.
dc.contributor.authorBaird, G.
dc.contributor.authorBishop, DVM
dc.contributor.authorMonaco, A. P.
dc.date.accessioned2018-06-29T15:53:08Z
dc.date.available2018-06-29T15:53:08Z
dc.date.issued2009-08-14
dc.identifierER690
dc.identifier.citationNewbury, D., Winchester, L., Addis, L., Paracchini, S., Buckingham, L., Clark, A., Cohen, W., Cowie, H., Dworzynski, K., Everitt, A., Goodyer, I., Hennessy, E., Kindley, A., Miller, L., Nasir, J., O''Hare, A., Shaw, D., Simkin, Z., Simonoff, E., Slonims, V., Watson, J., Ragoussis, J., Fisher, S., Seckl, J., Helms, P., Bolton, P., Pickles, A., Conti-Ramsden, G., Baird, G., Bishop, D. & Monaco, A. (2009) CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment, The American Journal of Human Genetics, vol. 85, , pp. 264-272,
dc.identifier.issn29297
dc.identifier.urihttp://dx.doi.org/10.1016/j.ajhg.2009.07.004
dc.identifier.urihttps://eresearch.qmu.ac.uk/handle/20.500.12289/690
dc.description.abstractSpecific language impairment (SLI) is a common developmental disorder characterized by difficulties in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. We performed a high-density screen of SLI1, a region of chromosome 16q that shows highly significant and consistent linkage to nonword repetition, a measure of phonological short-term memory that is commonly impaired in SLI. Using two independent language-impaired samples, one family-based (211 families) and another selected from a population cohort on the basis of extreme language measures (490 cases), we detected association to two genes in the SLI1 region: that encoding c-maf-inducing protein (CMIP, minP = 5.5 10-7 at rs6564903) and that encoding calcium-transporting ATPase, type2C, member2 (ATP2C2, minP = 2.0 10-5 at rs11860694). Regression modeling indicated that each of these loci exerts an independent effect upon nonword repetition ability. Despite the consistent findings in language-impaired samples, investigation in a large unselected cohort (n = 3612) did not detect association. We therefore propose that variants in CMIP and ATP2C2 act to modulate phonological short-term memory primarily in the context of language impairment. As such, this investigation supports the hypothesis that some causes of language impairment are distinct from factors that influence normal language variation. This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition.
dc.format.extent264-272
dc.relation.ispartofThe American Journal of Human Genetics
dc.titleCMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
dc.typearticle
dcterms.accessRightspublic
dc.description.facultycasl
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dc.description.volume85
dc.identifier.doihttp://doi:10.1016/j.ajhg.2009.07.004
dc.description.ispublishedpub
dc.description.eprintid690
rioxxterms.typearticle
qmu.authorWatson, Jocelynne
qmu.authorClark, Ann
qmu.authorO'Hare, Anne
dc.description.statuspub
dc.description.number2


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