List of works - Cheryl Shoubridge

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

scientific article

A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX

scientific journal article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

scientific article published on 21 December 2011

ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons

scientific article published on 13 June 2017

ARX spectrum disorders: making inroads into the molecular pathology

scientific article published on August 2010

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

scientific article published on February 2017

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

scientific article

Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance

scientific article published on 07 May 2020

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

scientific article published on 4 September 2015

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

scientific article published on 25 October 2016

Enhancement of intestinal growth and repair by growth factors.

scientific article

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy

scientific article published on 07 June 2017

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

scientific article

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

scientific article published on 22 August 2019

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

scientific article published on 01 December 2019

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

article

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

scientific article published on 2 May 2017

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

scientific article

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans.

scientific article published on 13 October 2016

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene

scientific article published on 9 May 2007

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

scientific article

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

scientific article

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

scientific article

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

scientific article

Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation

scientific article

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

scientific article published on 16 November 2015

Polyalanine tract disorders and neurocognitive phenotypes

scientific article published on January 2012

Preferential intestinal delivery of long[Arg3] insulin-like growth factor (LR3IGF-I) over IGF-I in preweaning and adult rats.

scientific article published in May 2003

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity

scientific journal article

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

scientific article published on 10 October 2013

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

scientific article

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

scientific article published in PLoS ONE

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

scientific article published on 26 August 2015

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

scientific article published on 18 May 2011

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy

scientific article published on 30 May 2019

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

scientific article

The genetic landscape of intellectual disability arising from chromosome X.

scientific article published on 24 June 2009

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

scientific article published on 26 September 2016

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

scientific article

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

scientific article published on 25 February 2015

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease

scientific article published in January 2017

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

scientific article published on 10 June 2015

List of works by Cheryl Shoubridge

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons

ARX spectrum disorders: making inroads into the molecular pathology

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene

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

Enhancement of intestinal growth and repair by growth factors.

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans.

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

Polyalanine tract disorders and neurocognitive phenotypes

Preferential intestinal delivery of long[Arg3] insulin-like growth factor (LR3IGF-I) over IGF-I in preweaning and adult rats.

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

The genetic landscape of intellectual disability arising from chromosome X.

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders