(Q74771975)

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13 November 2019

title

GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases (English)

1 reference

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13 November 2019

1 reference

12

S B Melançon

1 reference

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13 November 2019

13

C T McMurray

1 reference

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13 November 2019

author name string

A M Gacy

1

1 reference

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13 November 2019

G M Goellner

2

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13 November 2019

C Spiro

3

1 reference

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13 November 2019

X Chen

4

1 reference

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13 November 2019

G Gupta

5

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13 November 2019

E M Bradbury

6

1 reference

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13 November 2019

R B Dyer

7

1 reference

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13 November 2019

M J Mikesell

8

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13 November 2019

J Z Yao

9

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13 November 2019

A J Johnson

10

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13 November 2019

A Richter

11

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13 November 2019

publication date

1 March 1998

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13 November 2019

1 reference

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13 November 2019

volume

1

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13 November 2019

issue

4

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13 November 2019

page(s)

583-593

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Trinucleotide repeat expansions and human genetic disease

13 November 2019

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Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

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Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer

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SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

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The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

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7 January 2021

Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications

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7 January 2021

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses

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Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome

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Hairpin formation within the human enkephalin enhancer region. 1. Kinetic analysis

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Trinucleotide repeats that expand in human disease form hairpin structures in vitro

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7 January 2021

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

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7 January 2021

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript

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7 January 2021

Repeat expansion--all in a flap?

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Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.

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Trinucleotide instability: a repeating theme in human inherited disorders

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Simple sequences and the expanding genome

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Topology and formation of triple-stranded H-DNA.

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7 January 2021

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

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Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

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7 January 2021

Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis

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7 January 2021

Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases

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7 January 2021

Complex gene conversion events in germline mutation at human minisatellites

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7 January 2021

Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli

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Slippery DNA and diseases

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7 January 2021

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

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7 January 2021

Genetic instability in colorectal cancers

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7 January 2021

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7 January 2021

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

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7 January 2021

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

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7 January 2021

Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

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7 January 2021

Simple tandem DNA repeats and human genetic disease

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7 January 2021

A novel mutation avoidance mechanism dependent on S. cerevisiae RAD27 is distinct from DNA mismatch repair

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7 January 2021

Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli

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7 January 2021

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Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

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7 January 2021

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Identifiers

DOI

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13 November 2019

1 reference