Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells (Q28080022)

title

Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27690107%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Hagar Mor-Shaked

series ordinal

1

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27690107%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

1 reference

28 September 2016

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27690107%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

7

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27690107%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

10

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27690107%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

1 June 2020

copyright license

start time

28 September 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

20 March 2017

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20 March 2017

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20 March 2017

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Metabotropic glutamate receptor activation regulates fragile x mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses

20 March 2017

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Regulation of GABAA receptors by fragile X mental retardation protein

20 March 2017

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Establishment of Reporter Lines for Detecting Fragile X Mental Retardation (FMR1) Gene Reactivation in Human Neural Cells

7 April 2017

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CRISPR-dCas9 mediated TET1 targeting for selective DNA demethylation at BRCA1 promoter.

29 September 2017

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Immature Responses to GABA in Fragile X Neurons Derived from Human Embryonic Stem Cells

29 September 2017

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Pharmacotherapy for Fragile X Syndrome: Progress to Date.

29 September 2017

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Human-Mouse Chimerism Validates Human Stem Cell Pluripotency

29 September 2017

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A comparison of genetically matched cell lines reveals the equivalence of human iPSCs and ESCs

29 September 2017

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Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons.

29 September 2017

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Molecular mechanisms regulating impaired neurogenesis of fragile X syndrome human embryonic stem cells

29 September 2017

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High-Throughput Screening Using iPSC-Derived Neuronal Progenitors to Identify Compounds Counteracting Epigenetic Gene Silencing in Fragile X Syndrome.

29 September 2017

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High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells

29 September 2017

1 reference

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DNA demethylation by 5-aza-2'-deoxycytidine is imprinted, targeted to euchromatin, and has limited transcriptional consequences

29 September 2017

1 reference

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The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Modeling fragile X syndrome in the Fmr1 knockout mouse

29 September 2017

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FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Mechanism of repeat-associated microRNAs in fragile X syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

R-loop formation is a distinctive characteristic of unmethylated human CpG island promoters

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

New perspectives on the biology of fragile X syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Sequence-specific biosensors report drug-induced changes in epigenetic silencing in living cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Molecular mechanisms of fragile X syndrome: a twenty-year perspective

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Fragile X syndrome: the GABAergic system and circuit dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Comparison of human induced pluripotent and embryonic stem cells: fraternal or identical twins?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Derivation, culture, and characterization of VUB hESC lines

29 September 2017

1 reference

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High-efficiency derivation of human embryonic stem cell lines following pre-implantation genetic diagnosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

A mouse model of the human Fragile X syndrome I304N mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Generation and characterization of FMR1 knockout zebrafish

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

The function of non-coding RNAs in genomic imprinting

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Pluripotent stem cell lines

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Laser-assisted derivation of human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Back to basics: Sox genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Human embryonic stem cells as a powerful tool for studying human embryogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

DNA structures, repeat expansions and human hereditary disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Altered differentiation of neural stem cells in fragile X syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Diseases of unstable repeat expansion: mechanisms and common principles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Repeat instability: mechanisms of dynamic mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

From stem cells to neurons and glia: a Soxist's view of neural development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Human embryonic stem cell lines with genetic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Molecular dissection of the events leading to inactivation of the FMR1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Induction of gene expression by 5-Aza-2'-deoxycytidine in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) but not epithelial cells by DNA-methylation-dependent and -independent mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Dicer is essential for formation of the heterochromatin structure in vertebrate cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

The fragile X syndrome: from molecular genetics to neurobiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

The RNA binding protein FMRP: new connections and missing links.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

5-Azacytidine and 5-aza-2'-deoxycytidine as inhibitors of DNA methylation: mechanistic studies and their implications for cancer therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Chromosomal silencing and localization are mediated by different domains of Xist RNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

A shift from reversible to irreversible X inactivation is triggered during ES cell differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Triplet repeats form secondary structures that escape DNA repair in yeast

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Trinucleotide repeats associated with human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Familial transmission of the FMR1 CGG repeat.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Molecular mechanisms regulating the defects in fragile X syndrome neurons derived from human pluripotent stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Developmental changes in expression of inhibitory neuronal proteins in the Fragile X Syndrome mouse basolateral amygdala

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Fragile-X chromosome and learning disability.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

DNA methylation represses FMR-1 transcription in fragile X syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

2 June 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Instability of a (CGG)98 repeat in the Fmr1 promoter.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Developmental expression of Xenopus fragile X mental retardation-1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Neural differentiation of Fragile X human Embryonic Stem Cells reveals abnormal patterns of development despite successful neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Timing of the absence of FMR1 expression in full mutation chorionic villi.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Derivation of novel human ground state naive pluripotent stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Origins of epilepsy in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Normal Neurogenesis but Abnormal Gene Expression in Human Fragile X Cortical Progenitor Cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Functional Deficiencies in Fragile X Neurons Derived from Human Embryonic Stem Cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Early developmental alterations in GABAergic protein expression in fragile X knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

The developmental switch in GABA polarity is delayed in fragile X mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Fragile X syndrome: From protein function to therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Pharmacokinetics of 5-azacitidine administered with phenylbutyrate in patients with refractory solid tumors or hematologic malignancies.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES7100077

FMR1 premutation allele (CGG)81 is stable in mice.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5083916

Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation

27 November 2018

1 reference

12 December 2020

Trinucleotide repeats affect DNA replication in vivo

1 reference

12 December 2020

At physiological pH, d(CCG)15 forms a hairpin containing protonated cytosines and a distorted helix

1 reference

12 December 2020

1 reference

12 December 2020

The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis

1 reference

12 December 2020

Mitotic behavior of expanded CGG repeats studied on cultured cells: further evidence for methylation-mediated triplet repeat stability in fragile X syndrome

1 reference

12 December 2020

Identifiers

DOI

10.3390/GENES7100077

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27690107%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27690107%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

2 references