Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing (Q34142085)

31 July 2017

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing (English)

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alternative mRNA splicing, via spliceosome

31 July 2017

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Nicolas Charlet-B

1

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31 July 2017

Rajesh S Savkur

2

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31 July 2017

Gopal Singh

3

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31 July 2017

Anne V Philips

4

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31 July 2017

Elizabeth A Grice

5

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31 July 2017

Thomas A Cooper

6

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31 July 2017

1 July 2002

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31 July 2017

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31 July 2017

10

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31 July 2017

45-53

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31 July 2017

1

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Molecular basis for decreased muscle chloride conductance in the myotonic goat

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Possible role of apamin-sensitive K+ channels in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

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/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Ion-channel defects and aberrant excitability in myotonia and periodic paralysis

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Characteristics of Na+ channels and Cl- conductance in resealed muscle fibre segments from patients with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Altered Na+ channel activity and reduced Cl? conductance cause hyperexcitability in recessive generalized myotonia (becker)

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

A polymorphic GT repeat from the human cardiac Na+Ca2+ exchanger intron 2 activates splicing

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Diversity of mammalian voltage-gated sodium channels.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

The CLC chloride channel family

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Voltage-gated ion channels and hereditary disease

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Small-conductance calcium-activated potassium currents in mouse hyperexcitable denervated skeletal muscle

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

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https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Altered gene expression in steroid-treated denervated muscle.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Inactivation of muscle chloride channel by transposon insertion in myotonic mice

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

The CUG-binding protein binds specifically to UG dinucleotide repeats in a yeast three-hybrid system

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Biomedicine. Reconstructing myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

Coordinate repression of a trio of neuron-specific splicing events by the splicing regulator PTB

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2802%2900572-5

7 January 2021

10.1016/S1097-2765(02)00572-5

Identifiers

DOI

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31 July 2017

1 reference