Understanding the molecular mechanisms of intellectual disability [ 2012-12-30 - 2017-06-30 ]

Related Publications

• Associated with ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons
  handle : 2440/107488
  
• Associated with An emerging female phenotype with loss-of-function mutations in the Aristaless-related homeodomain transcription factor ARX
  handle : 2440/105786
  
• Associated with Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance
  url : researchoutputs.unisa.edu.au/11541.2/146645
  
• Associated with Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance
  handle : 2440/126172
  
• Associated with Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX)
  handle : 2440/131077
  
Show all 17 related publications
• Associated with Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene
  handle : 2440/105071
  
• Associated with Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy
  handle : 2440/109122
  
• Associated with Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy
  handle : 2440/106218
  
• Associated with Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
  handle : 2440/123452
  
• Associated with Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
  url : researchoutputs.unisa.edu.au/11541.2/146626
  
• Associated with Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis
  handle : 2440/106202
  
• Associated with Large scale gene expression meta-analysis reveals tissue-specific, sex-biased gene expression in humans
  handle : 2440/106185
  
• Associated with Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation
  handle : 2440/82004
  
• Associated with Regulating transcriptional activity by phosphorylation: a new mechanism for the ARX homeodomain transcription factor
  handle : 2440/117460
  
• Associated with Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX
  handle : 2440/100023
  
• Associated with Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
  handle : 2440/97902
  
• Associated with Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
  handle : 2440/100008
  
Show less related publications