(Q52009207)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16927100%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts (English)

1 reference

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29 December 2019

1 reference

5

1 reference

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29 December 2019

author name string

Laura Machuca-Tzili

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16927100%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Helena Thorpe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16927100%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Thelma E Robinson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16927100%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Caroline Sewry

4

1 reference

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29 December 2019

publication date

23 August 2006

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29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16927100%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

120

1 reference

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29 December 2019

issue

4

1 reference

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29 December 2019

page(s)

487-499

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16927100%20AND%20SRC:MED&resulttype=core&format=json

p63α Mutations Lead to Aberrant Splicing of Keratinocyte Growth Factor Receptor in the Hay-Wells Syndrome

29 December 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

1 reference

12 December 2020

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

1 reference

12 December 2020

GFP-tagged balancer chromosomes for Drosophila melanogaster

1 reference

12 December 2020

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

1 reference

12 December 2020

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

1 reference

12 December 2020

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

1 reference

12 December 2020

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2.

1 reference

12 December 2020

Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations.

1 reference

12 December 2020

Genetic mapping of a second myotonic dystrophy locus

1 reference

12 December 2020

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

1 reference

12 December 2020

An electron microscopic study of myotonic dystrophy

1 reference

12 December 2020

Muscleblind proteins regulate alternative splicing

1 reference

12 December 2020

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

1 reference

12 December 2020

The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing

1 reference

12 December 2020

Heterogeneity of Z-band structure within a single muscle sarcomere: implications for sarcomere assembly

1 reference

12 December 2020

Mutations in ZASP define a novel form of muscular dystrophy in humans

1 reference

12 December 2020

A muscleblind knockout model for myotonic dystrophy

1 reference

12 December 2020

Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle

1 reference

12 December 2020

Insulin receptor splicing alteration in myotonic dystrophy type 2.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

1 reference

12 December 2020

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

1 reference

12 December 2020

An interspecific functional complementation test in Drosophila for introductory genetics laboratory courses

1 reference

12 December 2020

Structural states in the Z band of skeletal muscle correlate with states of active and passive tension

1 reference

12 December 2020

Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.

1 reference

12 December 2020

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity

1 reference

12 December 2020

Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development

1 reference

12 December 2020

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

1 reference

12 December 2020

ZASP: a new Z-band alternatively spliced PDZ-motif protein

1 reference

12 December 2020

Origin of PDZ (DHR, GLGF) domains

1 reference

12 December 2020

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

1 reference

12 December 2020

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

1 reference

12 December 2020

muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear Cys3His-type zinc-finger-containing proteins.

1 reference

12 December 2020

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

1 reference

12 December 2020

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

1 reference

12 December 2020

The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line

1 reference

12 December 2020

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

1 reference

12 December 2020

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

1 reference

12 December 2020

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11

1 reference

12 December 2020

Z band dynamics as a function of sarcomere length and the contractile state of muscle

1 reference

12 December 2020

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

1 reference

12 December 2020

The Staden sequence analysis package

1 reference

12 December 2020

Myotonia dystrophica with heart involvement: an electron microscopic study of skeletal, cardiac, and smooth muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-006-0228-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16927100%20AND%20SRC:MED&resulttype=core&format=json

release_54gwxooygraejcim6lfcbps6nm

29 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/54gwxooygraejcim6lfcbps6nm

24 November 2022

mapped directly with Wikidata item

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