An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals (Q34699372)

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 August 2017

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

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Europe PubMed Central

PubMed publication ID

4 August 2017

author name string

Paula D Ladd

1

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4 August 2017

Leslie E Smith

2

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4 August 2017

Natalia A Rabaia

3

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4 August 2017

James M Moore

4

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4 August 2017

Sara A Georges

5

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4 August 2017

R Scott Hansen

6

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Europe PubMed Central

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4 August 2017

Randi J Hagerman

7

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4 August 2017

Flora Tassone

8

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4 August 2017

Stephen J Tapscott

9

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4 August 2017

Galina N Filippova

10

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4 August 2017

publication date

6 October 2007

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4 August 2017

Human Molecular Genetics

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4 August 2017

16

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4 August 2017

24

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Europe PubMed Central

PubMed publication ID

4 August 2017

3174-3187

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Europe PubMed Central

PubMed publication ID

4 August 2017

A decade of molecular studies of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

The fragile-X premutation: a maturing perspective

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

FXTAS: a progressive neurologic syndrome associated with Fragile X premutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

A fragile balance: FMR1 expression levels

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Elevated FMR1 mRNA in premutation carriers is due to increased transcription.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

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/10.1093%2FHMG%2FDDM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Protein composition of the intranuclear inclusions of FXTAS.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

RNA-mediated neuromuscular disorders

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Deconstructing myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

A weak TATA box is a prerequisite for glucocorticoid-dependent repression of the osteocalcin gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Insulators and boundaries: versatile regulatory elements in the eukaryotic genome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Genetics and epigenetics of the multifunctional protein CTCF.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

High-resolution profiling of histone methylations in the human genome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Role of late replication timing in the silencing of X-linked genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

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/10.1093%2FHMG%2FDDM293

21 January 2018

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Glutamine repeats and neurodegeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Huntington's Disease-like 2 (HDL2) in North America and Japan

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Novel, nonconsensus cellular splicing regulates expression of a gene encoding a chemokine-like protein that shows high variation and is specific for human herpesvirus 6.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Natural expression of immature Ucn antisense RNA in the rat brain. Evidence favoring bidirectional transcription of the Ucn gene locus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

5' diversity of human hepatic PXR (NR1I2) transcripts and identification of the major transcription initiation site

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

The profile of repeat-associated histone lysine methylation states in the mouse epigenome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Heterochromatin revisited

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Spreading of silent chromatin: inaction at a distance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Protocol for the fast chromatin immunoprecipitation (ChIP) method

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM293

21 January 2018

Identifiers

10.1093/HMG/DDM293

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 August 2017

ResearchGate publication ID

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