The nuclear envelope: an intriguing focal point for neurogenetic disease (Q27006719)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25119890%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

The nuclear envelope: an intriguing focal point for neurogenetic disease (English)

1 reference

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12 March 2020

1 reference

2

1 reference

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12 March 2020

author name string

Howard J Worman

series ordinal

1

1 reference

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12 March 2020

language of work or name

1 reference

1 October 2014

1 reference

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12 March 2020

2 references

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12 March 2020

volume

11

2 references

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12 March 2020

issue

4

2 references

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12 March 2020

page(s)

764-772

1 reference

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Regulation of Torsin ATPases by LAP1 and LULL1

12 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

A jumbo problem: mapping the structure and functions of the nuclear pore complex

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy

21 March 2017

1 reference

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A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model

21 March 2017

1 reference

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NDC1: a crucial membrane-integral nucleoporin of metazoan nuclear pore complexes

21 March 2017

1 reference

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The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells

21 March 2017

1 reference

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Coupling of the nucleus and cytoplasm: role of the LINC complex

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

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

21 March 2017

1 reference

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 March 2017

1 reference

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Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

An integral membrane protein of the pore membrane domain of the nuclear envelope contains a nucleoporin-like region

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Unusual type of benign x-linked muscular dystrophy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Structural organization of the human gene (LMNB1) encoding nuclear lamin B1

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Nuclear membrane proteins with potential disease links found by subtractive proteomics

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Laminopathies and the long strange trip from basic cell biology to therapy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Lamin B1 duplications cause autosomal dominant leukodystrophy

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors

21 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

21 March 2017

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Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells

7 April 2017

1 reference

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The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

SUN1/2 and Syne/Nesprin-1/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

MicroRNA-23a promotes myelination in the central nervous system

21 March 2017

1 reference

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Gene therapy for the nervous system: challenges and new strategies

21 March 2017

1 reference

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Inherited isolated dystonia: clinical genetics and gene function.

28 September 2017

1 reference

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TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Nuclear lamins and neurobiology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Chemical inhibition of NAT10 corrects defects of laminopathic cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

The multifunctional nuclear pore complex: a platform for controlling gene expression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Targeted ablation of nesprin 1 and nesprin 2 from murine myocardium results in cardiomyopathy, altered nuclear morphology and inhibition of the biomechanical gene response.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Nuclear mechanics and mechanotransduction in health and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Emerin organizes actin flow for nuclear movement and centrosome orientation in migrating fibroblasts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Farnesylation of lamin B1 is important for retention of nuclear chromatin during neuronal migration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

28 September 2017

1 reference

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Uncovering nuclear pore complexity with innovation

28 September 2017

1 reference

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The LINC complex is essential for hearing

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Nuclear pore complex composition: a new regulator of tissue-specific and developmental functions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome

28 September 2017

1 reference

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Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival.

28 September 2017

1 reference

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Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation

28 September 2017

1 reference

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Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.

28 September 2017

1 reference

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Mechanical regulation of nuclear structure and function.

28 September 2017

1 reference

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Regulation of prelamin A but not lamin C by miR-9, a brain-specific microRNA.

28 September 2017

1 reference

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3D ultrastructure of the nuclear pore complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Nuclear lamins and laminopathies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

The structure of the nuclear pore complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Functional interactions between nucleoporins and chromatin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

28 September 2017

Lamin-binding Proteins

1 reference

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Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency.

28 September 2017

1 reference

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Role of A-type lamins in signaling, transcription, and chromatin organization.

28 September 2017

1 reference

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Nesprin-1 mutations in human and murine cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Lamina-associated polypeptide 2alpha loss impairs heart function and stress response in mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

The nuclear envelope as a signaling node in development and disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

28 September 2017

1 reference

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Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Prelamin A, Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition

28 September 2017

1 reference

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Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation.

28 September 2017

1 reference

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Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

28 September 2017

1 reference

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TorsinA in the nuclear envelope

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Identification of a major polypeptide of the nuclear pore complex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Keratin-like proteins that coisolate with intermediate filaments of BHK-21 cells are nuclear lamins

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phase.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Immunocytochemical localization of the major polypeptides of the nuclear pore complex-lamina fraction. Interphase and mitotic distribution

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

31 May 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

De novo LMNA mutations cause a new form of congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Contextual automated 3D analysis of subcellular organelles adapted to high-content screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

SYNE1 mutations in autosomal recessive cerebellar ataxia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4391386

The nuclear lamina is a meshwork of intermediate-type filaments

28 November 2018

1 reference

https://api.crossref.org/works/10.1007%2FS13311-014-0296-8

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

Emery-dreifuss muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/25119890

12 December 2020

10.1007/S13311-014-0296-8

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25119890%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

12 March 2020

1021871012

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25119890%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

PubMed publication ID

25119890

2 references