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DISEASE MODELS & MECHANISMS (2011)
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HUMAN MOLECULAR GENETICS (2011)
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HUMAN MOLECULAR GENETICS (2011)
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts
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JOURNAL OF CLINICAL INVESTIGATION (2011)
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JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES (2011)
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome
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Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement
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Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein Clearance in Hutchinson-Gilford Progeria Syndrome Cells
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SCIENCE TRANSLATIONAL MEDICINE (2011)
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BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2010)
Functional Coupling between the Extracellular Matrix and Nuclear Lamina by Wnt Signaling in Progeria
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DEVELOPMENTAL CELL (2010)
Defective DSB repair correlates with abnormal nuclear morphology and is improved with FTI treatment in Hutchinson-Gilford progeria syndrome fibroblasts
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EXPERIMENTAL CELL RESEARCH (2010)
Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence
Erica K. Benson et al.
JOURNAL OF CELL SCIENCE (2010)
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency
Catherine Coffinier et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Diseases of the Nuclear Envelope
Howard J. Worman et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2010)
The Posttranslational Processing of Prelamin A and Disease
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ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
The Nuclear Envelope as a Signaling Node in Development and Disease
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DEVELOPMENTAL CELL (2009)
Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins
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HUMAN MOLECULAR GENETICS (2009)
Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
Abhimanyu Garg et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Laminopathies and the long strange trip from basic cell biology to therapy
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JOURNAL OF CLINICAL INVESTIGATION (2009)
Increased mechanosensitivity and nuclear stiffness in Hutchinson-Gilford progeria cells: effects of farnesyltransferase inhibitors
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AGING CELL (2008)
De novo LMNA mutations cause a new form of congenital muscular dystrophy
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ANNALS OF NEUROLOGY (2008)
Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutation
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BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2008)
Dysfunctional Connections Between the Nucleus and the Actin and Microtubule Networks in Laminopathic Models
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BIOPHYSICAL JOURNAL (2008)
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A
Yiyong Liu et al.
FASEB JOURNAL (2008)
Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin
Thomas Dechat et al.
GENES & DEVELOPMENT (2008)
Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Yuexia Wang et al.
HUMAN MOLECULAR GENETICS (2008)
Nuclear envelope defects cause stem cell dysfunction in premature-aging mice
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JOURNAL OF CELL BIOLOGY (2008)
Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527Cys LMNA Mutation
Anil K. Agarwal et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated
Shao H. Yang et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Suppression of Proliferative Defects Associated with Processing-defective Lamin A Mutants by hTERT or Inactivation of p53
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MOLECULAR BIOLOGY OF THE CELL (2008)
Transcriptional repression mediated by repositioning of genes to the nuclear lamina
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NATURE (2008)
Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing
Paola Scaffidi et al.
NATURE CELL BIOLOGY (2008)
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging
Ignacio Varela et al.
NATURE MEDICINE (2008)
Phenotype and course of Hutchinson-Gilford progeria syndrome
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NEW ENGLAND JOURNAL OF MEDICINE (2008)
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model
Brian C. Capell et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Heart-hand syndrome of Slovenian type: a new kind of laminopathy
L. Renou et al.
JOURNAL OF MEDICAL GENETICS (2008)
New metabolic phenotypes in laminopathies:: LMNA mutations in patients with severe metabolic syndrome
Aurélie Decaudain et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
Nuclear lamin A/C deficiency induces defects in cell mechanics, polarization, and migration
Jerry S. H. Lee et al.
BIOPHYSICAL JOURNAL (2007)
Activation of MAPK in hearts of EMD null mice:: similarities between mouse models of X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy
Antoine Muchir et al.
HUMAN MOLECULAR GENETICS (2007)
Cell nuclei spin in the absence of lamin B1
Julie Y. Ji et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Laminopathies: A wide spectrum of human diseases
Howard J. Worman et al.
EXPERIMENTAL CELL RESEARCH (2007)
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy
Antoine Muchir et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Emery-Dreifuss muscular dystrophy
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CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2007)
Lamin B1 duplications cause autosomal dominant leukodystrophy
Quasar S. Padiath et al.
NATURE GENETICS (2006)
Compound heterozygosity for mutations in LMNA causes a Progeria syndrome without prelamin A accumulation
Valerie L. R. M. Verstraeten et al.
HUMAN MOLECULAR GENETICS (2006)
Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors
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JOURNAL OF CELL SCIENCE (2006)
A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation
Shao H. Yang et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy
Robert A. Hegele et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
A mitotic lamin B matrix induced by RanGTP required for spindle assembly
MY Tsai et al.
SCIENCE (2006)
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria
LG Fong et al.
SCIENCE (2006)
Prelamin A, Zmpste24, misshapen cell nuclei, and progeria - new evidence suggesting that protein farnesylation could be important for disease pathogenesis
SG Young et al.
JOURNAL OF LIPID RESEARCH (2005)
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy
CL Moulson et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2005)
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition
MW Glynn et al.
HUMAN MOLECULAR GENETICS (2005)
Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome
MP Mallampalli et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Hepatic steatosis in dunnigan-type familial partial lipodystrophy
A Lüdtke et al.
AMERICAN JOURNAL OF GASTROENTEROLOGY (2005)
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome
BC Capell et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes
JI Toth et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation
SH Yang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Genomic instability in laminopathy-based premature aging
BH Liu et al.
NATURE MEDICINE (2005)
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
CL Navarro et al.
HUMAN MOLECULAR GENETICS (2005)
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy
MC Walter et al.
NEUROMUSCULAR DISORDERS (2005)
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
J Lammerding et al.
JOURNAL OF CLINICAL INVESTIGATION (2004)
Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice
LG Fong et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Lamin B1 is required for mouse development and nuclear integrity
L Vergnes et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C
M Tazir et al.
BRAIN (2004)
A-type lamins: Guardians of the soma?
CJ Hutchison et al.
NATURE CELL BIOLOGY (2004)
LMNA mutations in atypical Werner's syndrome
LS Chen et al.
LANCET (2003)
Lamin A truncation in Hutchinson-Gilford progeria
A De Sandre-Giovannoli et al.
SCIENCE (2003)
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
M Eriksson et al.
NATURE (2003)
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
F Caux et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect
MO Bergo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
G Novelli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
The Ig-like structure of the c-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy
I Krimm et al.
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Structure of the globular tail of nuclear lamin
S Dhe-Paganon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
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
A De Sandre-Giovannoli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
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
C Vigouroux et al.
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Disruption of nuclear lamin organization blocks the elongation phase of DNA replication
RD Moir et al.
JOURNAL OF CELL BIOLOGY (2000)
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
A Muchir et al.
HUMAN MOLECULAR GENETICS (2000)
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
RA Speckman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
S Shackleton et al.
NATURE GENETICS (2000)
Direct interaction between emerin and lamin A
L Clements et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2000)
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
H Cao et al.
HUMAN MOLECULAR GENETICS (2000)