(Q35433625)

English

Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?

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Europe PubMed Central

PubMed publication ID

8 August 2017

Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations? (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

U Salat

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

B Bardoni

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

D Wöhrle

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

P Steinbach

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

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publication date

1 November 2000

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

37

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

842-850

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

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=1734474

27 July 2018

Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 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=1734474

27 July 2018

Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Fragile X syndrome is less common than previously estimated

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Molecular basis of genetic instability of triplet repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

The fragile X mental retardation protein is associated with ribosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 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=1734474

27 July 2018

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Enhanced Fmr-1 expression in testis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

High resolution methylation analysis of the FMR1 gene trinucleotide repeat region 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=1734474

27 July 2018

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

High sensitivity mapping of methylated cytosines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Mechanisms of DNA expansion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 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=1734474

27 July 2018

High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Familiarity, recessivity and germline mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Instability of a 550-base pair DNA segment and abnormal methylation 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=1734474

27 July 2018

Physical mapping across the fragile X: hypermethylation and clinical expression of 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=1734474

27 July 2018

Absence of expression of the FMR-1 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=1734474

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

Genotype mosaicism in fragile X fetal tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 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=1734474

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

27 July 2018

In vivo footprinting analysis of the FMR1 gene: proposals concerning gene regulation in high-functioning males.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

DNA secondary structure: a common and causative factor for expansion in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

Stalling of DNA methyltransferase in chromosome stability and chromosome remodelling (Review).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

Characterization of the full fragile X syndrome mutation in fetal gametes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

In vitro DNA methylation inhibits FMR-1 promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

Translational suppression by trinucleotide repeat expansion at FMR1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

Rapid antibody test for fragile X syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734474

26 September 2018

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA methylation and triplet repeat stability: new proposals addressing actual questions on the CGG repeat of fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hairpin induced slippage and hyper-methylation of the fragile X DNA triplets

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitotic behavior of expanded CGG repeats studied on cultured cells: further evidence for methylation-mediated triplet repeat stability in fragile X syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11073538

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.37.11.842

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

ResearchGate publication ID

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