Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.

Human molecular genetics - 15 Dec 2016

Mattiske Tessa, Lee Kristie, Gecz Jozef, Friocourt Gaelle, Shoubridge Cheryl

Abstract excerpt

The Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in embryonic development. Mutations in ARX give rise to intellectual disability (ID), epilepsy and brain malformation syndromes. To capture the genetics and molecular disruptions that underpin the ARX-associated clinical phenotypes, we undertook a transcriptome wide RNASeq approach to analyse...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epilepsy
Share to Histone Deacetylases
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Peptides

Share to Prosencephalon

Share to Protein Biosynthesis

Share to Telencephalon

Source

Identifiers

PMID: 27798109
DOI: 10.1093/hmg/ddw360

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.PMID 27798109Read ↗

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.Semantic proximity Read ↗

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

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.Semantic proximity Read ↗

A Chromatin Accessibility Atlas of the Developing Human TelencephalonSemantic proximity Read ↗

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemSemantic proximity Read ↗

ARX spectrum disorders: making inroads into the molecular pathology.Semantic proximity Read ↗

A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.Semantic proximity Read ↗

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.Semantic proximity Read ↗

Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian developmentSemantic proximity Read ↗

<i>PHOX2B</i> polyalanine repeat mutation has a profound impact on the transcriptome of neuronal progenitor cells in Haddad syndromeSemantic proximity Read ↗

Common and distinct transcriptional signatures of mammalian embryonic lethality.Semantic proximity Read ↗

ARX: a gene for all seasons.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.