(Q58562640)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

title

Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

Human Induced Pluripotent Stem Cells

2 May 2020

main subject

1 reference

5

1 reference

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2 May 2020

Peter S Zammit

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

Francesco Saverio Tedesco

2 May 2020

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

author name string

Heather B Steele-Stallard

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Luca Pinton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Shilpita Sarcar

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Tanel Ozdemir

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

language of work or name

English

0 references

publication date

15 October 2018

1 reference

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2 May 2020

published in

Frontiers in Physiology

1 reference

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2 May 2020

volume

9

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2 May 2020

page(s)

1332

1 reference

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Creative Commons Attribution 4.0 International

2 May 2020

copyright license

start time

15 October 2018

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.

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Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse.

30 November 2018

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Pluripotent stem cells to model Hutchinson-Gilford progeria syndrome (HGPS): Current trends and future perspectives for drug discovery

30 November 2018

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Altering lamina assembly reveals lamina-dependent and -independent functions for A-type lamins.

30 November 2018

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Pluripotent Stem Cells for Gene Therapy of Degenerative Muscle Diseases.

30 November 2018

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Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy

30 November 2018

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Efficient derivation and inducible differentiation of expandable skeletal myogenic cells from human ES and patient-specific iPS cells.

30 November 2018

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Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies.

30 November 2018

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Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation

30 November 2018

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Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

30 November 2018

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Transplantation of induced pluripotent stem cell-derived mesoangioblast-like myogenic progenitors in mouse models of muscle regeneration

30 November 2018

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30 November 2018

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Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies

30 November 2018

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Structural alterations of Lamin A protein in dilated cardiomyopathy.

30 November 2018

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Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies

30 November 2018

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Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity

30 November 2018

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The muscle dystrophy-causing ΔK32 lamin A/C mutant does not impair the functions of the nucleoplasmic lamin-A/C-LAP2α complex in mice

30 November 2018

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Modeling of lamin A/C mutation premature cardiac aging using patient‐specific induced pluripotent stem cells

30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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30 November 2018

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Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.

30 November 2018

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A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans

30 November 2018

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Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C

30 November 2018

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Uncoordinated transcription and compromised muscle function in the lmna-null mouse model of Emery- Emery-Dreyfuss muscular dystrophy.

30 November 2018

1 reference

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Lamina-independent lamins in the nuclear interior serve important functions

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

30 November 2018

1 reference

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30 November 2018

1 reference

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Genotype-phenotype correlations in laminopathies: how does fate translate?

30 November 2018

1 reference

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The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

30 November 2018

1 reference

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Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Laminopathic mutations interfere with the assembly, localization, and dynamics of nuclear lamins

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Human laminopathies: nuclei gone genetically awry

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

LMNA mutations in atypical Werner's syndrome

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Both emerin and lamin C depend on lamin A for localization at the nuclear envelope

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6201196

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy

30 November 2018

1 reference

12 December 2020

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

1 reference

12 December 2020

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

1 reference

12 December 2020

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death

1 reference

12 December 2020

Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna R298C/R298C

1 reference

12 December 2020

Identifiers

DOI

10.3389/FPHYS.2018.01332

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30405424%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference