Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts (Q33834776)

24959844

29 July 2017

title

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts (English)

1 reference

Ullrich congenital muscular dystrophy

29 July 2017

0 references

0 references

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author

Ichizo Nishino

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24959844%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Satoru Noguchi

1

1 reference

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9 June 2020

Megumu Ogawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24959844%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Genri Kawahara

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24959844%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

May Christine Malicdan

4

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9 June 2020

publication date

24 June 2014

1 reference

24959844

Molecular Therapy. Nucleic acids

29 July 2017

published in

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9 June 2020

volume

3

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9 June 2020

page(s)

e171

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describes a project that uses

9 June 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4078762/fullTextXML

inferred from PubMed Central ID database lookup

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Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy

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4 July 2018

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4 July 2018

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New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

4 July 2018

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4 July 2018

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4 July 2018

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4 July 2018

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Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy termi

4 July 2018

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4 July 2018

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29 October 2018

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Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

29 October 2018

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29 October 2018

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29 October 2018

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12 December 2020

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Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

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7 January 2021

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Identifiers

DOI

10.1038/MTNA.2014.22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24959844%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24959844%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

24959844

1 reference

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