(Q28276671)

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Human laminopathies: nuclei gone genetically awry

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Europe PubMed Central

Human laminopathies: nuclei gone genetically awry (English)

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Francis Collins

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December 2006

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Nature Reviews Genetics

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7

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12

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940-52

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The nuclear lamina comes of age.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Lamins: building blocks or regulators of gene expression?

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

The nuclear envelope in muscular dystrophy and cardiovascular diseases

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Isoprenylation is required for the processing of the lamin A precursor

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Modulation of Ras and a-factor function by carboxyl-terminal proteolysis

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Mammalian prenylcysteine carboxyl methyltransferase is in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Lamin B1 is required for mouse development and nuclear integrity

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Lamin A/C expression is a marker of mouse and human embryonic stem cell differentiation.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Hutchinson-Guilford progeria syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Lamin a truncation in Hutchinson-Gilford progeria.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Paternal origin of LMNA mutations in Hutchinson-Gilford progeria

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Positional cloning of the Werner's syndrome gene

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

LMNA mutations in atypical Werner's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Nuclear deformation characterizes Werner syndrome cells

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

The Emery-Dreifuss Muscular Dystrophy Mutation Database

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Laminopathies: multisystem dystrophy syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Structure of the globular tail of nuclear lamin

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Type A insulin resistance syndrome revealing a novel lamin A mutation

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Lamin B1 duplications cause autosomal dominant leukodystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Laminopathies: from the heart of the cell to the clinics

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Nuclear envelope proteins and neuromuscular diseases

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

The nuclear envelope lamina network has elasticity and a compressibility limit suggestive of a molecular shock absorber

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Characterization of the Drosophila melanogaster genome at the nuclear lamina.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Disruption of nuclear lamin organization alters the distribution of replication factors and inhibits DNA synthesis

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

E2F-1-mediated transactivation is inhibited by complex formation with the retinoblastoma susceptibility gene product

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

A-type lamins are essential for TGF-beta1 induced PP2A to dephosphorylate transcription factors

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

A progeroid syndrome in mice is caused by defects in A-type lamins

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

A mitotic lamin B matrix induced by RanGTP required for spindle assembly

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Nuclear titin interacts with A- and B-type lamins in vitro and in vivo

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Cell biology: ageing nucleus gets out of shape.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Genomic instability in laminopathy-based premature aging

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Prelamin A and lamin A appear to be dispensable in the nuclear lamina

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Lipid posttranslational modifications. Farnesyl transferase inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Opinion: Searching for the elusive targets of farnesyltransferase inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Farnesyl and geranylgeranyl transferase inhibitors induce G1 arrest by targeting the proteasome.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Post-prenylation-processing enzymes as new targets in oncogenesis

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Statins and cancer prevention

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

RNAi-mediated gene silencing in non-human primates.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Lamin A-dependent nuclear defects in human aging

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Age-related changes of nuclear architecture in Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Genetic and physiological insights into the metabolic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Histological and ultrastructural features of atherosclerosis in progeria

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Smooth muscle cell depletion and collagen types in progeric arteries

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Reduced adiponectin and HDL cholesterol without elevated C-reactive protein: clues to the biology of premature atherosclerosis in Hutchinson-Gilford Progeria Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Aging syndrome genes and premature coronary artery disease

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

Statins and their role in vascular protection

1 reference

https://api.crossref.org/works/10.1038%2FNRG1906

31 March 2020

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