(Q104139660)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

title

Establishment of FXS-A9 panel with a single human X chromosome from Fragile X syndrome-associated individual (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

1 reference

Yuji Nakayama

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

Kaori Adachi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

Nofirifumi Shioda

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

Shoya Maeta

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

Eiji Nanba

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

Hiroyuki Kugoh

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

publication date

6 December 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

Experimental Cell Research

12 December 2020

published in

1 reference

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12 December 2020

page(s)

112419

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

12 December 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Mechanisms of trinucleotide repeat instability during human development

7 January 2021

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Genetics evaluation for the etiologic diagnosis of autism spectrum disorders

7 January 2021

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Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

DNA methylation represses FMR-1 transcription in fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits

7 January 2021

1 reference

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Abnormal development of dendritic spines in FMR1 knock-out mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Absence of expression of the FMR-1 gene in fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Cloned human FMR1 trinucleotide repeats exhibit a length- and orientation-dependent instability suggestive of in vivo lagging strand secondary structure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Repeat instability: mechanisms of dynamic mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Mouse A9 cells containing single human chromosomes for analysis of genomic imprinting

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Specific detection of residual CHO host cell DNA by real-time PCR.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in huntington chorea and CGG repeats in fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Consensus characterization of 16 FMR1 reference materials: a consortium study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Size and methylation mosaicism in males with Fragile X syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

A study of the distributional characteristics of FMR1 transcript levels in 238 individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Transcription of the FMR1 gene in individuals with fragile X syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Expression of the FMR1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Insufficient Evidence for "Autism-Specific" Genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Single nucleotide polymorphism and FMR1 CGG repeat instability in two Basque valleys.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Transchromosomic technology for genomically humanized animals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Trans-chromosomic mice containing a human CYP3A cluster for prediction of xenobiotic metabolism in humans.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

Manipulation of human minichromosomes to carry greater than megabase-sized chromosome inserts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2020.112419

10.1016/J.YEXCR.2020.112419

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33296661%20AND%20SRC:MED&resulttype=core&format=json

12 December 2020

1 reference