(Q34871401)

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Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs

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Europe PubMed Central

PubMed publication ID

5 August 2017

Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

fragile X syndrome

1 reference

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author name string

Daman Kumari

1

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Aditi Bhattacharya

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Jeffrey Nadel

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Kristen Moulton

4

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Nicole M Zeak

5

1 reference

Europe PubMed Central

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5 August 2017

Anne Glicksman

6

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Carl Dobkin

7

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

David J Brick

8

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Philip H Schwartz

9

1 reference

Europe PubMed Central

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5 August 2017

Carolyn B Smith

10

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Eric Klann

11

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Europe PubMed Central

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5 August 2017

Karen Usdin

12

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Europe PubMed Central

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5 August 2017

publication date

1 December 2014

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Europe PubMed Central

PubMed publication ID

5 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

35

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Europe PubMed Central

PubMed publication ID

5 August 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

1485-1494

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4287266/fullTextXML

based on heuristic

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Genetic and acute CPEB1 depletion ameliorate fragile X pathophysiology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Glycogen synthase kinase-3 inhibitors reverse deficits in long-term potentiation and cognition in fragile X mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Process-based expansion and neural differentiation of human pluripotent stem cells for transplantation and disease modeling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

The translation of translational control by FMRP: therapeutic targets for FXS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Altered cerebral protein synthesis in fragile X syndrome: studies in human subjects and knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Reversal of disease-related pathologies in the fragile X mouse model by selective activation of GABAB receptors with arbaclofen.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Somatic expansion in mouse and human carriers of fragile X premutation alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Lithium reverses increased rates of cerebral protein synthesis in a mouse model of fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Excess protein synthesis in FXS patient lymphoblastoid cells can be rescued with a p110β-selective inhibitor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Regulation and function of ribosomal protein S6 kinase (S6K) within mTOR signalling networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Reversal of fragile X phenotypes by manipulation of AβPP/Aβ levels in Fmr1KO mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

BDNF and TrkB in neuronal differentiation of Fmr1-knockout mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Characterization of PF-4708671, a novel and highly specific inhibitor of p70 ribosomal S6 kinase (S6K1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Fragile X: leading the way for targeted treatments in autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Dysregulation of mTOR signaling in fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Fragile X mental retardation protein control of neuronal mRNA metabolism: Insights into mRNA stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Translational control of long-lasting synaptic plasticity and memory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Dendritic spine structural anomalies in fragile-X mental retardation syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287266

8 July 2018

Targeting the endocannabinoid system in the treatment of fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Fragile X screening by quantification of FMRP in dried blood spots by a Luminex immunoassay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Age- and sex-dependent differential interaction of nuclear trans-acting factors with Fmr-1 promoter in mice brain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Activation of the extracellular signal-regulated kinase pathway contributes to the behavioral deficit of fragile x-syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22699

21 January 2018

Epidemiology of fragile X syndrome: A systematic review and meta-analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224527

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224527

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224527

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fragile X full mutation alleles composed of few alleles: implications for CGG repeat expansion

1 reference

https://pubmed.ncbi.nlm.nih.gov/25224527

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22699

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

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