(Q37248874)

19 August 2017

Factors associated with HD CAG repeat instability in Huntington disease (English)

1 reference

19 August 2017

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8

J F Gusella

1 reference

US-Venezuela Collaborative Research Group

19 August 2017

10

object named as

US-Venezuela Collaborative Research Group

1 reference

19 August 2017

V C Wheeler

1

1 reference

19 August 2017

F Persichetti

2

1 reference

19 August 2017

S M McNeil

3

1 reference

19 August 2017

J S Mysore

4

1 reference

19 August 2017

S S Mysore

5

1 reference

19 August 2017

M E MacDonald

6

1 reference

19 August 2017

R H Myers

7

1 reference

19 August 2017

N S Wexler

9

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19 August 2017

language of work or name

English

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publication date

27 July 2007

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Journal of Medical Genetics

19 August 2017

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19 August 2017

44

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19 August 2017

11

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19 August 2017

695-701

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Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Huntington disease expansion mutations in humans can occur before meiosis is completed

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

CTG repeat instability and size variation timing in DNA repair-deficient mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Trinucleotide repeat length instability and age of onset in Huntington's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Spontaneous mutation and parental age in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Molecular Approaches to Hereditary Diseases of the Nervous System: Huntington's Disease as a Paradigm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

CAG repeat lengths in X- and Y-bearing sperm indicate that gender bias during transmission of Huntington's disease gene is determined in the embryo

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Reduced penetrance of the Huntington's disease mutation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2705129

3 September 2018

Identifiers

DOI

10.1136/JMG.2007.050930

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

17660463

1 reference