(Q39961107)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

3

1 reference

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10 January 2020

Claudia Bagni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

author name string

Elisabetta Tabolacci

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Umberto Moscato

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Pietro Chiurazzi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Giovanni Neri

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

publication date

16 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

10 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

16

1 reference

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10 January 2020

issue

12

1 reference

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10 January 2020

page(s)

1487-1498

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18628788%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.130

10 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

The DNA methyltransferases of mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Local DNA demethylation in vertebrates: how could it be performed and targeted?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Histone acetyltransferase complexes: one size doesn't fit all

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

HATs and HDACs: from structure, function and regulation to novel strategies for therapy and prevention

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Collaborative spirit of histone deacetylases in regulating chromatin structure and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Noncoding RNAs and gene silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

An epigenetic road map for histone lysine methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Histone lysine demethylases: emerging roles in development, physiology and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Dynamic Regulation of Histone Lysine Methylation by Demethylases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Set9, a novel histone H3 methyltransferase that facilitates transcription by precluding histone tail modifications required for heterochromatin formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Chromatin modification and epigenetic reprogramming in mammalian development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Heterochromatin and epigenetic control of gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Histone H3 lysine 9 methylation and HP1gamma are associated with transcription elongation through mammalian chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Oxymoron no more: the expanding world of heterochromatic genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

RNAi-mediated pathways in the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Polycomb silencers control cell fate, development and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Translational suppression by trinucleotide repeat expansion at FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Clinical involvement and protein expression in individuals with the FMR1 premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Correlation between histone lysine methylation and developmental changes at the chicken beta-globin locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Heterochromatin revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Two RNAi complexes, RITS and RDRC, physically interact and localize to noncoding centromeric RNAs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

A cullin E3 ubiquitin ligase complex associates with Rik1 and the Clr4 histone H3-K9 methyltransferase and is required for RNAi-mediated heterochromatin formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Role of histone H3 lysine 27 methylation in Polycomb-group silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130

inferred from DOI database lookup

7 January 2021

based on heuristic

Swi6/HP1 recruits a JmjC domain protein to facilitate transcription of heterochromatic repeats

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.130