Phenomics and lamins: from disease to therapy (Q36805337)

16 August 2017

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title

Phenomics and lamins: from disease to therapy (English)

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16 August 2017

1

Robert A Hegele

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author name string

Junko Oshima

series ordinal

2

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16 August 2017

language of work or name

English

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publication date

30 March 2007

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Experimental Cell Research

16 August 2017

published in

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16 August 2017

volume

313

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16 August 2017

issue

10

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16 August 2017

page(s)

2134-2143

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The human phenome project

16 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Phenomics: fiction or the future?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Phenomics, lipodystrophy, and the metabolic syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Genetics of complex disease: approaches, problems, and solutions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Genetic determinants of the metabolic syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Pathophysiology of insulin resistance in human disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

The metabolic syndrome and total and cardiovascular disease mortality in middle-aged men

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus. Provisional report of a WHO Consultation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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.YEXCR.2007.03.023

Lessons from human mutations in PPARgamma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

7 January 2021

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

inferred from DOI database lookup

7 January 2021

based on heuristic

Premature atherosclerosis associated with monogenic insulin resistance.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Stearoyl-CoA desaturase-1 and the metabolic syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Novel peroxisome proliferator-activated receptor ligands for Type 2 diabetes and the metabolic syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Pharmacotherapy for dyslipidaemia – current therapies and future agents

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Acquired and inherited lipodystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

LMNA mutation position predicts organ system involvement in laminopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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.YEXCR.2007.03.023

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

LMNA mutations in atypical Werner's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Nuclear lamins: laminopathies and their role in premature ageing.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Laminopathies: multisystem dystrophy syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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.YEXCR.2007.03.023

Genetic basis of lipodystrophies and management of metabolic complications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Lamin A-dependent nuclear defects in human aging

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

A-type lamins: guardians of the soma?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Distinct structural and mechanical properties of the nuclear lamina in Hutchinson-Gilford progeria syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Changes in lamina structure are followed by spatial reorganization of heterochromatic regions in caspase-8-activated human mesenchymal stem cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Nuclear organization of DNA replication in primary mammalian cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

Lipid posttranslational modifications. Farnesyl transferase inhibitors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

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.YEXCR.2007.03.023

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEXCR.2007.03.023

10.1016/J.YEXCR.2007.03.023

7 January 2021

Identifiers

DOI

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16 August 2017

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