(Q36142068)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22641815%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Signaling defects in iPSC-derived fragile X premutation neurons (English)

1 reference

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2 February 2020

12

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2 February 2020

author name string

Jing Liu

1

1 reference

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2 February 2020

Katarzyna A Koscielska

2

1 reference

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2 February 2020

Zhengyu Cao

3

1 reference

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2 February 2020

Susan Hulsizer

4

1 reference

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2 February 2020

Natalie Grace

5

1 reference

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2 February 2020

Gaela Mitchell

6

1 reference

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2 February 2020

Catherine Nacey

7

1 reference

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2 February 2020

Jackline Githinji

8

1 reference

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2 February 2020

Jeannine McGee

9

1 reference

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2 February 2020

Dolores Garcia-Arocena

10

1 reference

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2 February 2020

Randi J Hagerman

11

1 reference

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2 February 2020

Isaac N Pessah

13

1 reference

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2 February 2020

Paul J Hagerman

14

1 reference

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2 February 2020

publication date

28 May 2012

1 reference

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2 February 2020

published in

Human Molecular Genetics

1 reference

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2 February 2020

volume

21

1 reference

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2 February 2020

issue

17

1 reference

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2 February 2020

page(s)

3795-3805

1 reference

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Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone.

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Modelling schizophrenia using human induced pluripotent stem cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Potential therapeutic interventions for fragile X syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Female human iPSCs retain an inactive X chromosome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Fragile X: leading the way for targeted treatments in autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Advances in understanding the molecular basis of FXTAS

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Mouse models of fragile X-associated tremor ataxia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Naive and primed pluripotent states

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

The fragile X prevalence paradox

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Directly reprogrammed fibroblasts show global epigenetic remodeling and widespread tissue contribution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Regulation of dendritic growth and plasticity by local and global calcium dynamics.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Gene action in the X-chromosome of the mouse (Mus musculus L.)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Screening for fragile X syndrome: a literature review and modelling study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Dendritic spine formation and pruning: common cellular mechanisms?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Derivation of pre-X inactivation human embryonic stem cells under physiological oxygen concentrations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Mechanisms for synchronous calcium oscillations in cultured rat cerebellar neurons.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Unexpected X chromosome skewing during culture and reprogramming of human somatic cells can be alleviated by exogenous telomerase

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Meta-analysis of the heterogeneity of X chromosome inactivation in human pluripotent stem cells.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Spontaneous synchronized calcium oscillations in neocortical neurons in the presence of physiological [Mg(2+)]: involvement of AMPA/kainate and metabotropic glutamate receptors

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

Translational suppression by trinucleotide repeat expansion at FMR1.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3412379

23 September 2018

Identifiers

DOI

10.1093/HMG/DDS207

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22641815%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22641815%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22641815%20AND%20SRC:MED&resulttype=core&format=json