(Q79144720)

English

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

scientific article published on 27 September 2006

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

alternative mRNA splicing, via spliceosome

1 reference

based on heuristic

inferred from title

Saara Tegelberg

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

author name string

Tarja Joensuu

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Mervi Kuronen

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Kirsi Alakurtti

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Paula Hakala

5

1 reference

Europe PubMed Central

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19 December 2019

Antti Aalto

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Laura Huopaniemi

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Nina Aula

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Roberto Michellucci

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Kai Eriksson

10

1 reference

Europe PubMed Central

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19 December 2019

Anna-Elina Lehesjoki

11

1 reference

Europe PubMed Central

PubMed publication ID

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19 December 2019

publication date

27 September 2006

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

15

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19 December 2019

2

1 reference

Europe PubMed Central

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19 December 2019

185-193

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201723

0 references

Unverricht-Lundborg disease with cystatin B gene abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

The use of TaqMan RT-PCR assays for semiquantitative analysis of gene expression in CNS tissues and disease models

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Instability of the EPM1 minisatellite

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Univerricht-Lundborg disease: underdiagnosed in the Netherlands

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Hairpin loop mutations of chicken cystatin have different effects on the inhibition of cathepsin B, cathepsin L and papain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Initial sequencing and analysis of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Alternative RNA splicing in the nervous system

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide detection of tissue-specific alternative splicing in the human transcriptome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201723

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201723

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17003839%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

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