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Lista de obras de Cheryl Shoubridge

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

ARX spectrum disorders: making inroads into the molecular pathology

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Enhancement of intestinal growth and repair by growth factors.

artículo científico publicado en 2001

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Polyalanine tract disorders and neurocognitive phenotypes

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

The genetic landscape of intellectual disability arising from chromosome X.

artículo científico publicado en 2009

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015