(Q47877248)

6 February 2018

title

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. (English)

1 reference

6 February 2018

progressive myoclonus epilepsy

main subject

1 reference

Alakurtti K

1

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6 February 2018

Virtaneva K

2

1 reference

6 February 2018

Joensuu T

3

1 reference

6 February 2018

Palvimo JJ

4

1 reference

6 February 2018

Lehesjoki AE

5

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6 February 2018

language of work or name

English

0 references

publication date

1 January 2000

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6 February 2018

published in

Gene

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6 February 2018

volume

242

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6 February 2018

issue

1-2

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6 February 2018

page(s)

65-73

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6 February 2018

Structure and expression of the human cystatin C gene

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Nomenclature and classification of the proteins homologous with the cysteine-proteinase inhibitor chicken cystatin.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

In vitro reactivation of the FMR1 gene involved in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Translational suppression by trinucleotide repeat expansion at FMR1.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Sp1-mediated transcriptional activation is repressed by Sp3

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Structural organization, expression and chromosomal mapping of the mouse cystatin-C-encoding gene (Cst3).

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Human spleen cysteineproteinase inhibitor

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

The high-resolution crystal structure of a parallel-stranded guanine tetraplex

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

The human cystatin C gene promoter: functional analysis and identification of heterogeneous mRNA

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Characterization of cell-specific modulatory element in the murine ornithine decarboxylase promoter

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Transcriptional properties of RNA polymerase II within triplet repeat-containing DNA from the human myotonic dystrophy and fragile X loci

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Biological implications of the DNA structures associated with disease-causing triplet repeats

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Structure and transcriptional regulation of the human cystatin A gene. The 12-O-tetradecanoylphorbol-13-acetate (TPA) responsive element-2 site (-272 to -278) on cystatin A gene is critical for TPA-dependent regulation

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

The cystatins: Protein inhibitors of cysteine proteinases

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

NGG-triplet repeats form similar intrastrand structures: implications for the triplet expansion diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2899%2900550-8

7 January 2021

10.1016/S0378-1119(99)00550-8

Identifiers

DOI

1 reference

6 February 2018

1 reference

6 February 2018