Somatic expansion in mouse and human carriers of fragile X premutation alleles (Q36472667)

14 August 2017

Somatic expansion in mouse and human carriers of fragile X premutation alleles (English)

1 reference

14 August 2017

Rachel Adihe Lokanga

1

1 reference

14 August 2017

Ali Entezam

2

1 reference

14 August 2017

Daman Kumari

3

1 reference

14 August 2017

Dmitry Yudkin

4

1 reference

14 August 2017

Mei Qin

5

1 reference

14 August 2017

Carolyn Beebe Smith

6

1 reference

14 August 2017

Karen Usdin

7

1 reference

14 August 2017

4 October 2012

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14 August 2017

1 reference

14 August 2017

34

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14 August 2017

157-166

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14 August 2017

1

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Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Induction and persistence of radiation-induced DNA damage is more pronounced in young animals than in old animals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

New insights into repeat instability: role of RNA•DNA hybrids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Convergent transcription through a long CAG tract destabilizes repeats and induces apoptosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

A novel approach to investigate tissue-specific trinucleotide repeat instability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Spermatogonial culture medium: an effective and efficient nutrient mixture for culturing rat spermatogonial stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Transcription destabilizes triplet repeats

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Transcription-induced CAG repeat contraction in human cells is mediated in part by transcription-coupled nucleotide excision repair

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Expandable DNA repeats and human disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

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?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Steady-state regulation of the human DNA mismatch repair system.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Studies of FRAXA and FRAXE in women with premature ovarian failure

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Examination of factors associated with instability of the FMR1 CGG repeat.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Isolation of MutSbeta from human cells and comparison of the mismatch repair specificities of MutSbeta and MutSalpha

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Mismatch repair deficiency associated with overexpression of the MSH3 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Fragile X premutation screening in women with premature ovarian failure.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Growth and aging in the rat: changes in total protein, cellularity, and polyploidy in various organs.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

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

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.

28 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Amygdala dysfunction in men with the fragile X premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Instability of the CAG repeat in immortalized fibroblast cell cultures from Huntington's disease transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Association between idiopathic premature ovarian failure and fragile X premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3524353

Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates

21 September 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22177

Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

12 December 2020

Modulation of transcription reveals a new mechanism of triplet repeat instability in Escherichia coli

1 reference

12 December 2020

FRAXA premutation associated with premature ovarian failure

1 reference

12 December 2020

Expansion of GAA trinucleotide repeats in mammals

1 reference

12 December 2020

Fragile X full mutation alleles composed of few alleles: implications for CGG repeat expansion

1 reference

12 December 2020

DNA damage response and cellular senescence in tissues of aging mice

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22177

1 reference

14 August 2017

1 reference

14 August 2017

1 reference