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Article

Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.

Human molecular genetics - 1 Mar 2012

Nasrallah MacLean Pancoast, Cho Ginam, Simonet Jacqueline C, Putt Mary E, Kitamura Kunio, Golden Jeffrey A

Abstract excerpt

Polyalanine (poly-A) tracts exist in 494 annotated proteins; to date, expansions in these tracts have been associated with nine human diseases. The pathogenetic mechanism by which a poly-A tract results in these various human disorders remains uncertain. To understand the role of this mutation type, we investigated the change in functional properties of the transcription factor Arx when it has an expanded poly-A...

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Identifiers

PMID: 22108177
DOI: 10.1093/hmg/ddr538
PMCID: PMC3277309

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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