Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype (Q35688645)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068590%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype (English)

1 reference

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16 January 2020

13

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16 January 2020

author name string

Christopher R Pierson

1

1 reference

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16 January 2020

Ashley N Dulin-Smith

2

1 reference

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16 January 2020

Ashley N Durban

3

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16 January 2020

Morgan L Marshall

4

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16 January 2020

Jordan T Marshall

5

1 reference

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16 January 2020

Andrew D Snyder

6

1 reference

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16 January 2020

Nada Naiyer

7

1 reference

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16 January 2020

Jordan T Gladman

8

1 reference

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16 January 2020

Dawn S Chandler

9

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16 January 2020

Michael W Lawlor

10

1 reference

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16 January 2020

Anna Buj-Bello

11

1 reference

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16 January 2020

James J Dowling

12

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16 January 2020

publication date

7 November 2011

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16 January 2020

published in

Human Molecular Genetics

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16 January 2020

volume

21

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16 January 2020

page(s)

811-825

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16 January 2020

issue

4

1 reference

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Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice

16 January 2020

cites work

1 reference

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Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

12 July 2018

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MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

12 July 2018

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Centronuclear myopathies: a widening concept

12 July 2018

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12 July 2018

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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

12 July 2018

1 reference

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Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy

12 July 2018

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12 July 2018

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AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

12 July 2018

1 reference

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Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

12 July 2018

1 reference

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Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

X-linked myotubular and centronuclear myopathies

12 July 2018

1 reference

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Myotubularin phosphoinositide phosphatases, protein phosphatases, and kinases: their roles in junction dynamics and spermatogenesis

12 July 2018

1 reference

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Systematic identification and analysis of exonic splicing silencers.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

Computational definition of sequence motifs governing constitutive exon splicing.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

ESEfinder: A web resource to identify exonic splicing enhancers

12 July 2018

1 reference

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The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

Predictive identification of exonic splicing enhancers in human genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

MTM1 mutations in X-linked myotubular myopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3263994

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

12 July 2018

1 reference

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Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

12 July 2018

1 reference

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

12 July 2018

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"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

12 July 2018

1 reference

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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

25 September 2018

1 reference

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Genotype-phenotype correlations in X-linked myotubular myopathy

25 September 2018

1 reference

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Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

25 September 2018

1 reference

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Medical complications in long-term survivors with X-linked myotubular myopathy.

25 September 2018

1 reference

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Differential effects of fat and sucrose on body composition in A/J and C57BL/6 mice

25 September 2018

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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies

25 September 2018

1 reference

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X-linked myotubular myopathy--a long-term follow-up study

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22068590

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22068590

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The histographic analysis of human muscle biopsies with regard to fiber types: 3. Myotonias, myasthenia gravis, and hypokalemic periodic paralysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22068590

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR512

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068590%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22068590%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference