Laminopathies: multisystem dystrophy syndromes (Q36346720)

13 August 2017

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title

Laminopathies: multisystem dystrophy syndromes (English)

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13 August 2017

Katherine N Jacob

1

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13 August 2017

Abhimanyu Garg

series ordinal

2

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13 August 2017

publication date

20 December 2005

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Molecular Genetics and Metabolism

13 August 2017

published in

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13 August 2017

volume

87

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13 August 2017

issue

4

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13 August 2017

page(s)

289-302

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The laminopathies: nuclear structure meets disease

13 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

7 January 2021

1 reference

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A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features

7 January 2021

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Nuclear lamins: their structure, assembly, and interactions

7 January 2021

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An alternative splicing product of the lamin A/C gene lacks exon 10.

7 January 2021

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Expression of nuclear lamins in human tissues and cancer cell lines and transcription from the promoters of the lamin A/C and B1 genes

7 January 2021

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Change of karyoskeleton during mammalian spermatogenesis: expression pattern of nuclear lamin C2 and its regulation

7 January 2021

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

7 January 2021

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Acquired and inherited lipodystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.

7 January 2021

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Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

LMNA mutations in atypical Werner's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Lamin a truncation in Hutchinson-Gilford progeria.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Type A insulin resistance syndrome revealing a novel lamin A mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A clinical review of Charcot-Marie-Tooth

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Cell cycle modulation of protein-DNA interactions at a human replication origin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A severe case of mandibuloacral dysplasia in a girl

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Dynamic interactions of nuclear lamina proteins with chromatin and transcriptional machinery

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.10.018

10.1016/J.YMGME.2005.10.018

7 January 2021

Identifiers

DOI

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13 August 2017

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