The complex pathology of trinucleotide repeats (Q41477080)

1 October 2017

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title

The complex pathology of trinucleotide repeats (English)

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1 October 2017

Reddy PS

1

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1 October 2017

Housman DE

series ordinal

2

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1 October 2017

publication date

1 June 1997

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Current Opinion in Cell Biology

1 October 2017

published in

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1 October 2017

volume

9

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1 October 2017

issue

3

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1 October 2017

page(s)

364-372

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

1 October 2017

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

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Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

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7 January 2021

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

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7 January 2021

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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7 January 2021

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

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7 January 2021

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

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7 January 2021

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

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7 January 2021

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

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7 January 2021

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

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7 January 2021

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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7 January 2021

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

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7 January 2021

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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7 January 2021

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

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7 January 2021

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

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7 January 2021

Fragile X syndrome: a unique mutation in man.

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7 January 2021

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

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7 January 2021

Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

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7 January 2021

DRPLA gene (atrophin-1) sequence and mRNA expression in human brain

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

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7 January 2021

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

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7 January 2021

Mutations in the MSH3 gene preferentially lead to deletions within tracts of simple repetitive DNA in Saccharomyces cerevisiae

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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

Molecular basis of genetic instability of triplet repeats

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7 January 2021

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

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7 January 2021

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form

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7 January 2021

Normal and expanded Huntington's disease gene alleles produce distinguishable proteins due to translation across the CAG repeat.

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7 January 2021

Nuclear localization of androgen receptor in heterogeneous samples of normal, hyperplastic and neoplastic human prostate

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7 January 2021

Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

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7 January 2021

Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

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7 January 2021

Inactivation of the mouse Huntington's disease gene homolog Hdh

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7 January 2021

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

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7 January 2021

Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

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7 January 2021

Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases

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7 January 2021

Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: relevance to diseases of the nervous system

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7 January 2021

A huntingtin-associated protein enriched in brain with implications for pathology

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7 January 2021

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase

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7 January 2021

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

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7 January 2021

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

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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

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

FMR1 protein: conserved RNP family domains and selective RNA binding

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https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Absence of expression of the FMR-1 gene in fragile X syndrome

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https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

DNA methylation represses FMR-1 transcription in fragile X syndrome

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https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

A point mutation in the FMR-1 gene associated with fragile X mental retardation

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0955-0674%2897%2980009-9

7 January 2021

10.1016/S0955-0674(97)80009-9

Identifiers

DOI

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1 October 2017

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