Associated Papers
Molecular Mechanisms of Proliferative Senescence and Genomic Instability in Werner Syndrome and the WRN Gene Network.
Poot M
Cytogenetic and Genome Research, 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
Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.
Besci O et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.
Mahdavi M et al.
Laboratory Medicine, 2024
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
The Molecular and Cellular Basis of Hutchinson-Gilford Progeria Syndrome and Potential Treatments.
Batista NJ et al.
Genes, 2023
Mice harboring a R133L heterozygous mutation in LMNA exhibited ectopic lipid accumulation, aging, and mitochondrial dysfunction in adipose tissue.
Qiu R et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.
Kim HJ et al.
Frontiers in Cell and Developmental Biology, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
Regulation of Lipid Metabolism by Lamin in Mutation-Related Diseases.
Peng Y et al.
Frontiers in Pharmacology, 2022
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Campos JTAM et al.
Genetics and Molecular 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
Increase in lamin B1 promotes telomere instability by disrupting the shelterin complex in human cells.
Pennarun G et al.
Nucleic Acids Research, 2021
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Atalaia A et al.
Journal of Neuromuscular Diseases, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Mosbah H et al.
Cells, 2020
Cardiac Alterations in Patients with Familial Lipodystrophy.
Romano MMD et al.
Arquivos Brasileiros De Cardiologia, 2020
A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome.
Wang Z et al.
Adipocyte, 2019
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
Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.
Kwapich M et al.
Diabetes & Metabolism, 2019
Single molecule analysis of lamin dynamics.
Serebryannyy LA et al.
Methods (san Diego, Calif.), 2019
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Lamin missense mutations-the spectrum of phenotype variability is increasing.
Captur G et al.
European Journal of Heart Failure, 2018
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.
Frankel D et al.
Aging Cell, 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
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
Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins.
Capitanchik C et al.
Nucleus (austin, Tex.), 2018
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA.
Yanhua X et al.
Frontiers in Endocrinology, 2018
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Montenegro RM et al.
Frontiers in Endocrinology, 2018
LMNA-associated partial lipodystrophy: anticipation of metabolic complications.
Jeru I et al.
Journal of Medical Genetics, 2017
Progerin impairs vascular smooth muscle cell growth via the DNA damage response pathway.
Kinoshita D et al.
Oncotarget, 2017
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
Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation.
Motegi S et al.
Experimental Dermatology, 2016
Molecular insights into the premature aging disease progeria.
Vidak S et al.
Histochemistry and Cell Biology, 2016
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation.
Afonso P et al.
Atherosclerosis, 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
DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome.
Gonzalo S et al.
Current Opinion in Cell Biology, 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
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
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