(Q47886887)

English

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

scientific article published on 19 April 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

12

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

author name string

Yoshihiro Yamashita

1

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Tohru Matsuura

2

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Jun Shinmi

3

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Yoshinobu Amakusa

4

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Akio Masuda

5

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Mikako Ito

6

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Masanobu Kinoshita

7

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Hirokazu Furuya

8

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Koji Abe

9

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Tohru Ibi

10

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Ko Sahashi

11

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

publication date

19 April 2012

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

57

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PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

6

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

368-374

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

https://scigraph.springernature.com/pub.10.1038/jhg.2012.37

0 references

Alternative isoform regulation in human tissue transcriptomes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Alternative pre-mRNA splicing: the logic of combinatorial control

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Mechanisms of RNA-mediated disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

RNA and disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Detection and measurement of alternative splicing using splicing-sensitive microarrays.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Alternative splicing dysregulation secondary to skeletal muscle regeneration

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Son maintains accurate splicing for a subset of human pre-mRNAs

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Small molecule amiloride modulates oncogenic RNA alternative splicing to devitalize human cancer cells

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Cotranscriptional exon skipping in the genotoxic stress response

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Characterization and in vivo functional analysis of splice variants of cypher

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Muscle assembly: a titanic achievement?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

The physiological role of titin in striated muscle

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Expression of MBNL and CELF mRNA transcripts in muscles with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

21 January 2018

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype correlation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

7 January 2021

based on heuristic

inferred from DOI database lookup

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

7 January 2021

based on heuristic

inferred from DOI database lookup

Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.37

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2012.37

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 February 2018

http://europepmc.org/abstract/MED/22513715

ResearchGate publication ID

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