Associated Papers
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
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi A et al.
American Journal of Medical Genetics. Part A, 2023
Lamin Filament Assembly Derived from the Atomic Structure of the Antiparallel Four-Helix Bundle.
Ahn J et al.
Molecules and Cells, 2023
Crystal structure of progeria mutant S143F lamin A/C reveals increased hydrophobicity driving nuclear deformation.
Ahn J et al.
Communications 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
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Grelet M et al.
Orphanet Journal of Rare Diseases, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation.
Han M et al.
Human Mutation, 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
Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.
Dharmaraj T et al.
Frontiers in Cell and Developmental Biology, 2019
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Farnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decrease DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts.
Bikkul MU et al.
Biogerontology, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Clinical aspects of Emery-Dreifuss muscular dystrophy.
Madej-Pilarczyk A
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
Deleterious assembly of the lamin A/C mutant p.S143P causes ER stress in familial dilated cardiomyopathy.
West G et al.
Journal of Cell Science, 2016
Molecular insights into the premature aging disease progeria.
Vidak S et al.
Histochemistry and Cell Biology, 2016
Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge.
Robin JD et al.
Frontiers in Genetics, 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
Nuclear lamina remodelling and its implications for human disease.
Chojnowski A et al.
Cell and Tissue Research, 2015
Gene-rich chromosomal regions are preferentially localized in the lamin B deficient nuclear blebs of atypical progeria cells.
Bercht Pfleghaar K et al.
Nucleus (austin, Tex.), 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
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
LINC complex alterations in DMD and EDMD/CMT fibroblasts.
Taranum S et al.
European Journal of Cell Biology, 2012
Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation.
Carboni N et al.
Muscle & Nerve, 2012
The functions of the nuclear envelope in mediating the molecular crosstalk between the nucleus and the cytoplasm.
Shimi T et al.
Current Opinion in Cell Biology, 2012
Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins.
Duband-Goulet I et al.
Experimental Cell Research, 2011
The LINC complex and human disease.
Meinke P et al.
Biochemical Society Transactions, 2011
The role of nesprins as multifunctional organizers in the nucleus and the cytoskeleton.
Noegel AA et al.
Biochemical Society Transactions, 2011
Nuclear mechanics in disease.
Zwerger M et al.
Annual Review of Biomedical Engineering, 2011
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R et al.
European Journal of Human Genetics : Ejhg, 2011
[Three cases of Hutchinson-Gilford progeria syndrome].
Doubaj Y et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2011
Genotype-phenotype correlations in laminopathies: how does fate translate?
Scharner J et al.
Biochemical Society Transactions, 2010
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
Carboni N et al.
Muscle & Nerve, 2010
Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
Garg A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene.
Kandert S et al.
European Journal of Cell Biology, 2009
Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model.
Coutinho HD et al.
Immunity & Ageing : I & A, 2009