Dynamics of CAG repeat loci revealed by the analysis of their variability (Q46863018)

25 December 2017

title

Dynamics of CAG repeat loci revealed by the analysis of their variability (English)

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25 December 2017

author

Aida M Andrés

1

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25 December 2017

Oscar Lao

2

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25 December 2017

Francesc Calafell

4

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25 December 2017

Jaume Bertranpetit

5

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25 December 2017

author name string

Marta Soldevila

3

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publication date

1 January 2003

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25 December 2017

published in

Human Mutation

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25 December 2017

volume

21

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issue

1

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page(s)

61-70

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An apportionment of human DNA diversity

cites work

1 reference

Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat

21 January 2018

1 reference

Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci

21 January 2018

1 reference

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

21 January 2018

1 reference

Rate and directionality of mutations and effects of allele size constraints at anonymous, gene-associated, and disease-causing trinucleotide loci

21 January 2018

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Microsatellite mutations in the germline: implications for evolutionary inference

21 January 2018

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

21 January 2018

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Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

21 January 2018

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Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: implications for premenopausal breast cancer risk

21 January 2018

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

21 January 2018

1 reference

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

21 January 2018

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Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK

21 January 2018

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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1.

21 January 2018

1 reference

Expansion explosion: new clues to the pathogenesis of repeat expansion neurodegenerative diseases

21 January 2018

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Worldwide genetic analysis of the CFTR region

21 January 2018

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Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms

21 January 2018

1 reference

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

21 January 2018

1 reference

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

21 January 2018

1 reference

An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus

21 January 2018

1 reference

The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract

21 January 2018

1 reference

Microsatellite variation and the differentiation of modern humans

21 January 2018

1 reference

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

21 January 2018

1 reference

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

21 January 2018

1 reference

Heterogeneous mutation processes in human microsatellite DNA sequences

21 January 2018

1 reference

Population variation analysis at nine loci containing expressed trinucleotide repeats

21 January 2018

1 reference

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation

21 January 2018

1 reference

Association analysis of CAG repeats at the KCNN3 locus in Indian patients with bipolar disorder and schizophrenia

21 January 2018

1 reference

Genetic association study of a polymorphic CAG repeats array of calcium-activated potassium channel (KCNN3) gene and schizophrenia among the Chinese population from Taiwan

21 January 2018

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Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

21 January 2018

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The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Population genetics of trinucleotide repeat polymorphisms

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.10151

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25 December 2017

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25 December 2017