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
Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.
Zielińska A et al.
Cells, 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
Cyclin-dependent kinase 1 depolymerizes nuclear lamin filaments by disrupting the head-to-tail interaction of the lamin central rod domain.
Jeong S et al.
The Journal of Biological Chemistry, 2022
Effects of mutant lamins on nucleo-cytoskeletal coupling in Drosophila models of LMNA muscular dystrophy.
Shaw NM et al.
Frontiers in Cell and Developmental Biology, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Modulation of muscle redox and protein aggregation rescues lethality caused by mutant lamins.
Coombs GS et al.
Redox Biology, 2021
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
Recent insight into intermediate filament structure.
Eldirany SA et al.
Current Opinion in Cell Biology, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Structural basis for lamin assembly at the molecular level.
Ahn J et al.
Nature Communications, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
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
A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.
Guo X et al.
The Canadian Journal of Cardiology, 2016
Molecular insights into the premature aging disease progeria.
Vidak S et al.
Histochemistry and Cell Biology, 2016
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
Brodehl A et al.
Journal of Molecular and Cellular Cardiology, 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
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
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
McPherson E et al.
American Journal of Medical Genetics. Part A, 2009
Collagen expression in fibroblasts with a novel LMNA mutation.
Nguyen D et al.
Biochemical and Biophysical Research Communications, 2007
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0