Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
Molecular Mechanisms of Proliferative Senescence and Genomic Instability in Werner Syndrome and the WRN Gene Network.
Poot M
Cytogenetic and Genome Research, 2025
Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature.
Pekmezci A et al.
Archives of Endocrinology and Metabolism, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Novel variants associated with premature ovarian insufficiency in Russian adolescents.
Tsabai P et al.
Frontiers in Endocrinology, 2025
An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.
Chang L et al.
Bmc Medical Genomics, 2023
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Ghosh DK et al.
Aging Cell, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.
He G et al.
Endocrine Journal, 2019
Single molecule analysis of lamin dynamics.
Serebryannyy LA et al.
Methods (san Diego, Calif.), 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.
Piekarowicz K et al.
Cells, 2019
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes.
Perovanovic J et al.
Physiological Genomics, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
Roca I et al.
International Journal of Molecular Sciences, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Lamins and bone disorders: current understanding and perspectives.
Gargiuli C et al.
Oncotarget, 2018
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C et al.
Nucleus (austin, Tex.), 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
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
LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.
Alastalo TP et al.
Human Mutation, 2015
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.
Oshima J et al.
Gerontology, 2014
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report.
Gersak K et al.
Molecular Medicine Reports, 2013
Bilateral stenosis of carotid siphon in Hutchinson-Gilford progeria syndrome.
Narazaki R et al.
Brain & Development, 2013
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
Carboni N et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y et al.
American Journal of Medical Genetics. Part A, 2012
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J et al.
Human Mutation, 2011
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
Garg A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome.
Doh YJ et al.
The Korean Journal of Internal Medicine, 2009
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
McPherson E et al.
American Journal of Medical Genetics. Part A, 2009
Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.
Renard D et al.
Stroke, 2009
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
Kandert S et al.
Human Molecular Genetics, 2007
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
Lanktree M et al.
Clinical Genetics, 2007
Collagen expression in fibroblasts with a novel LMNA mutation.
Nguyen D et al.
Biochemical and Biophysical Research Communications, 2007
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 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
LMNA mutations in atypical Werner's syndrome.
Chen L et al.
Lancet (london, England), 2003