Associated Papers
Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.
Petrini S et al.
International Journal of Molecular Sciences, 2024
The Molecular and Cellular Basis of Hutchinson-Gilford Progeria Syndrome and Potential Treatments.
Batista NJ et al.
Genes, 2023
LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes.
Della Valle F et al.
Science Translational Medicine, 2022
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Soria-Valles C et al.
Journal of Medical Genetics, 2016
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.
Tu Y et al.
Nucleus (austin, Tex.), 2016
Molecular insights into the premature aging disease progeria.
Vidak S et al.
Histochemistry and Cell Biology, 2016
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T et al.
The Journal of Investigative Dermatology, 2015
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.
Motegi S et al.
The Journal of Dermatology, 2014
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
Kane MS et al.
American Journal of Medical Genetics. Part A, 2013
An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y et al.
American Journal of Medical Genetics. Part A, 2012
Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs.
Liu GH et al.
Cell Stem Cell, 2011
Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C.
Ho JC et al.
Aging, 2011
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
Garg A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model.
Coutinho HD et al.
Immunity & Ageing : I & A, 2009
The posttranslational processing of prelamin A and disease.
Davies BS et al.
Annual Review of Genomics and Human Genetics, 2009
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
Kandert S et al.
Human Molecular Genetics, 2007
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): a model for the study of human aging?
Arboleda G et al.
Experimental Gerontology, 2007
Phenomics and lamins: from disease to therapy.
Hegele RA et al.
Experimental Cell Research, 2007
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
Lanktree M et al.
Clinical Genetics, 2007
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Verstraeten VL et al.
Human Molecular Genetics, 2006
Altered splicing in prelamin A-associated premature aging phenotypes.
De Sandre-Giovannoli A et al.
Progress in Molecular and Subcellular Biology, 2006
Nuclear envelopathies--raising the nuclear veil.
Somech R et al.
Pediatric Research, 2005
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
Kirschner J et al.
Annals of Neurology, 2005
Laminopathies and atherosclerosis.
Al-Shali KZ et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2004
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
Csoka AB et al.
Journal of Medical Genetics, 2004
Direct actin binding to A- and B-type lamin tails and actin filament bundling by the lamin A tail.
Simon DN et al.
Nucleus (austin, Tex.), 0