Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1 - Wikidata - wikimedia - TriplyDB

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

http://www.wikidata.org/entity/Q28307006

about

Multiple pathways of recombination induced by double-strand breaks in Saccharomyces cerevisiae Comparative genomics and molecular dynamics of DNA repeats in eukaryotes Clinical picture of EPM1-Unverricht-Lundborg disease Mutations in EFHC1 cause juvenile myoclonic epilepsy Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases.Simultaneous EEG-fMRI in patients with Unverricht-Lundborg disease: event-related desynchronization/synchronization and hemodynamic response analysis Progressive myoclonus epilepsy of Unverricht-Lundborg type.Recent advances in the genetics of epilepsy: insights from human and animal studies.Genetics of childhood epilepsy Expansions and contractions in a tandem repeat induced by double-strand break repair.Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.Biochemistry and clinical role of human cystatin C.A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.Advances in the genetics of progressive myoclonus epilepsy.Database for the mutations of the Finnish disease heritage.Expansions and contractions in 36-bp minisatellites by gene conversion in yeast.Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Minisatellite alterations in ZRT1 mutants occur via RAD52-dependent and RAD52-independent mechanisms in quiescent stationary phase yeast cells Molecular background of progressive myoclonus epilepsy.Genetics of inherited human epilepsies Zinc regulates the stability of repetitive minisatellite DNA tracts during stationary phase.A Whole Genome Screen for Minisatellite Stability Genes in Stationary-Phase Yeast Cells Molecular background of EPM1-Unverricht-Lundborg disease.The biological effects of simple tandem repeats: lessons from the repeat expansion diseases.Modifiers and mechanisms of multi-system polyglutamine neurodegenerative disorders: lessons from fly models.Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients.Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.RAD1 controls the meiotic expansion of the human HRAS1 minisatellite in Saccharomyces cerevisiae.Characterization of a cysteine proteinase inhibitor induced during neuronal cell differentiation.Crystal structures of a DNA octaplex with I-motif of G-quartets and its splitting into two quadruplexes suggest a folding mechanism of eight tandem repeats.Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.Length and sequence heterozygosity differentially affect HRAS1 minisatellite stability during meiosis in yeast.A shared haplotype indicates a founder event in Unverricht-Lundborg disease patients from Serbia.The large loop repair and mismatch repair pathways of Saccharomyces cerevisiae act on distinct substrates during meiosis.Alterations of motor cortical excitability and anatomy in Unverricht-Lundborg disease.Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease.Abnormal ERD/ERS but unaffected BOLD response in patients with Unverricht-Lundborg disease during index extension: a simultaneous EEG-fMRI study.

P2860

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Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

http://www.wikidata.org/entity/Q28307006

description

1997 nî lūn-bûn

@nan

1997 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

@wuu

name

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@ast

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@en

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@nl

type

label

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@ast

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@en

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@nl

prefLabel

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@ast

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@en

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@nl

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P1433

Nature Genetics

P1476

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

@en

P2093

A E Lehesjoki

http://www.w3.org/2001/XMLSchema#string

A de la Chapelle

http://www.w3.org/2001/XMLSchema#string

E D'Amato

http://www.w3.org/2001/XMLSchema#string

G Avanzini

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J L Dieguez-Lucena

http://www.w3.org/2001/XMLSchema#string

J Miao

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K Virtaneva

http://www.w3.org/2001/XMLSchema#string

L A Pennacchio

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M Koskiniemi

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R Krahe

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P2860

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

Genetic evidence for the spread of agriculture in Europe by demic diffusion.

The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription.

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

Complex gene conversion events in germline mutation at human minisatellites

P2888

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393-396

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scholarly article

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10.1038/NG0497-393

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P407

P433

4

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P478

15

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P50

Roberto Michelucci

Carlo A Tassinari

P577

1997-04-01T00:00:00Z

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P5875

14126600

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9090386

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