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When lamins go bad: nuclear structure and disease
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PubMed
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Europe PubMed Central
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3706202
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
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26 February 2020
title
When lamins go bad: nuclear structure and disease
(English)
2 references
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PubMed
stated in
Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
author
Brian K Kennedy
series ordinal
2
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Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
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26 February 2020
author name string
Katherine H Schreiber
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1
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Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
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26 February 2020
language of work or name
English
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publication date
1 March 2013
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Europe PubMed Central
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3706202
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
published in
Cell
2 references
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PubMed
stated in
Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
volume
152
2 references
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PubMed
stated in
Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
page(s)
1365-1375
1 reference
stated in
Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
issue
6
2 references
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PubMed
stated in
Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
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Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene
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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
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A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy
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Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)
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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
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Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria
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A dual role for A-type lamins in DNA double-strand break repair
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Lamin B1 duplications cause autosomal dominant leukodystrophy
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
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Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice
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Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice
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Nuclear lamina defects cause ATM-dependent NF-κB activation and link accelerated aging to a systemic inflammatory response
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A truncated lamin A in the Lmna -/- mouse line: implications for the understanding of laminopathies
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Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival.
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Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation
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Nuclear lamin functions and disease
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Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.
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28 September 2017
Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies
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28 September 2017
Inner nuclear membrane proteins: impact on human disease
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28 September 2017
Nuclear lamina at the crossroads of the cytoplasm and nucleus
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28 September 2017
Post-natal myogenic and adipogenic developmental: defects and metabolic impairment upon loss of A-type lamins.
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28 September 2017
Lamins, laminopathies and disease mechanisms: possible role for proteasomal degradation of key regulatory proteins
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28 September 2017
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells
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28 September 2017
Investigating the purpose of prelamin A processing
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28 September 2017
LINC complexes in health and disease
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28 September 2017
Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin
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28 September 2017
Functional coupling between the extracellular matrix and nuclear lamina by Wnt signaling in progeria
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Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence
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28 September 2017
An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria
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28 September 2017
Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene
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Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes.
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28 September 2017
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients
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28 September 2017
Novel roles for A-type lamins in telomere biology and the DNA damage response pathway.
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Telomere length in Hutchinson-Gilford progeria syndrome
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28 September 2017
Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta-catenin
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28 September 2017
Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells.
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28 September 2017
Fast regulation of AP-1 activity through interaction of lamin A/C, ERK1/2, and c-Fos at the nuclear envelope
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28 September 2017
Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.
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28 September 2017
Suppression of proliferative defects associated with processing-defective lamin A mutants by hTERT or inactivation of p53.
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28 September 2017
Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated.
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28 September 2017
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging.
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28 September 2017
Nuclear envelope defects cause stem cell dysfunction in premature-aging mice
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28 September 2017
Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutation.
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28 September 2017
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A.
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28 September 2017
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
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28 September 2017
Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
A-type lamins regulate retinoblastoma protein function by promoting subnuclear localization and preventing proteasomal degradation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Lamin a truncation in Hutchinson-Gilford progeria.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Both emerin and lamin C depend on lamin A for localization at the nuclear envelope
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Expression of nuclear envelope lamins A and C in human myeloid leukemias
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
Phosphorylation of connexin43 on S279/282 may contribute to laminopathy-associated conduction defects.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 September 2017
ERK1/2 MAP kinases promote cell cycle entry by rapid, kinase-independent disruption of retinoblastoma-lamin A complexes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
31 May 2018
A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
31 May 2018
Nuclear A-type lamins are differentially expressed in human lung cancer subtypes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
31 May 2018
Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
31 May 2018
Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
31 May 2018
Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Emery–Dreifuss muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Heart-hand syndrome of Slovenian type: a new kind of laminopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
De novo LMNA mutations cause a new form of congenital muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
An association of Hutchinson–Gilford progeria and malignancy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Lamin B-receptor mutations in Pelger-Huët anomaly.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
The role of isoprenylation in membrane attachment of nuclear lamins. A single point mutation prevents proteolytic cleavage of the lamin A precursor and confers membrane binding properties
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706202
retrieved
28 November 2018
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23498943
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23498943
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23498943
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23498943
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.CELL.2013.02.015
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3898100
stated in
Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
OpenCitations bibliographic resource ID
3898100
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3898100
PMCID
3706202
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3898100
stated in
Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
PubMed ID
23498943
2 references
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3898100
stated in
Europe PubMed Central
PMCID
3706202
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23498943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
26 February 2020
ResearchGate publication ID
236053338
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