Associated Papers
From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review.
Li W et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Schaflinger E et al.
Gene, 2022
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 2022
Mutations Involved in Premature-Ageing Syndromes.
Coppedè F
The Application of Clinical Genetics, 2021
Premature aging syndromes: From patients to mechanism.
Foo MXR et al.
Journal of Dermatological Science, 2019
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2018
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Cenni V et al.
Ageing Research Reviews, 2018
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.
Bernasconi P et al.
Nucleus (austin, Tex.), 2018
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL et al.
European Journal of Human Genetics : Ejhg, 2014
Laminopathy-inducing mutations reduce nuclear import of expressed prelamin A.
Kiel T et al.
The International Journal of Biochemistry & Cell Biology, 2014
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.
Brodt C et al.
Journal of Cardiac Failure, 2013
[Laminopathies: one gene, several diseases].
Bertrand AT et al.
Biologie Aujourd'hui, 2011
Lamin A-linked progerias: is farnesylation the be all and end all?
Smallwood DT et al.
Biochemical Society Transactions, 2010
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
Cowan J et al.
Circulation. Cardiovascular Genetics, 2010
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
Miyoshi Y et al.
Clinical Genetics, 2008
The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy.
Cortese R et al.
Journal of Molecular Endocrinology, 2007
Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions.
Ramírez CL et al.
Cellular and Molecular Life Sciences : Cmls, 2007
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
Denecke J et al.
Human Mutation, 2006
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0