Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease (Q90147730)

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scientific article published on 18 September 2019

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English	Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease	scientific article published on 18 September 2019

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instance of

scholarly article

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stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

title

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease (English)

1 reference

stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

main subject

nemaline myopathy

1 reference

based on heuristic

inferred from title

author

James J Dowling

series ordinal

5

1 reference

stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

author name string

Boyang Qiu

series ordinal

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

Julie Ruston

series ordinal

2

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stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

Henk Granzier

series ordinal

3

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stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

Monica J Justice

series ordinal

4

1 reference

stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

publication date

18 September 2019

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stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

published in

Biology Open

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stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

volume

8

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Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

issue

9

1 reference

stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

copyright license

Creative Commons Attribution 4.0 International

start time

18 May 2021

1 reference

stated in

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Dose-repetition increases the mutagenic effectiveness of N-ethyl-N-nitrosourea in mouse spermatogonia

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Nemaline myopathy: a clinical study of 143 cases

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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In vivo drug discovery in the zebrafish

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12 December 2020

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Dietary L-tyrosine supplementation in nemaline myopathy.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Nebulin, a major player in muscle health and disease

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Nebulin and N-WASP cooperate to cause IGF-1-induced sarcomeric actin filament formation

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12 December 2020

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Drug screening in a zebrafish model of Duchenne muscular dystrophy.

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Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

based on heuristic

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Modifier genes and the plasticity of genetic networks in mice

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

based on heuristic

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Zebrafish models flex their muscles to shed light on muscular dystrophies

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

based on heuristic

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Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

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12 December 2020

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Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Mutation update: the spectra of nebulin variants and associated myopathies

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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12 December 2020

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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

retrieved

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Targeting latent TGFβ release in muscular dystrophy

1 reference

stated in

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reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

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15 years of zebrafish chemical screening

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

retrieved

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based on heuristic

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Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

retrieved

12 December 2020

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Evaluation of Rett Syndrome Symptom Improvement by Metabolic Modulators in Mecp2-Mutant Mice

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/31530540

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PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

1 reference

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Chemical screening in zebrafish for novel biological and therapeutic discovery

1 reference

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reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

retrieved

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based on heuristic

inferred from PubMed ID database lookup

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/31530540

retrieved

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Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice.

1 reference

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PubMed

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The genetics of congenital myopathies.

1 reference

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PubMed

reference URL

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based on heuristic

inferred from PubMed ID database lookup

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.

1 reference

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PubMed

reference URL

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inferred from PubMed ID database lookup

Kcnn4 is a modifier gene of intestinal cystic fibrosis preventing lethality in the Cftr-F508del mouse.

1 reference

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based on heuristic

inferred from PubMed ID database lookup

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy

1 reference

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reference URL

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based on heuristic

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Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens

1 reference

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reference URL

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1242/BIO.044867

1 reference

stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

PMC publication ID

6777365

1 reference

stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

PubMed publication ID

31530540

1 reference

stated in

Europe PubMed Central

PMC publication ID

6777365

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31530540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 April 2020

 

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