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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationA systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationRefined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXProtein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesityMutations 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 in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityEnhancement of intestinal growth and repair by growth factors.Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation.A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityIs there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans.The genetic landscape of intellectual disability arising from chromosome X.ARX spectrum disorders: making inroads into the molecular pathology.ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons.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.An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.The molecular and phenotypic spectrum of IQSEC2-related epilepsy.Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.Preferential intestinal delivery of long[Arg3] insulin-like growth factor (LR3IGF-I) over IGF-I in preweaning and adult rats.Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation.X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.Polyalanine Tract Disorders and Neurocognitive PhenotypesIQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
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prefLabel
Cheryl Shoubridge
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Cheryl Shoubridge
@en
Cheryl Shoubridge
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Cheryl Shoubridge
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Cheryl Shoubridge
@sl
P106
P1153
6602543742
P21
P31
P496
0000-0002-0157-3084