Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.
Bauer R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Letter to the Editor From de Zegher and Ibáñez: "Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts".
de Zegher F et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Lafraoui I et al.
International Journal of Molecular Sciences, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience.
Battipaglia I et al.
Children (basel, Switzerland), 2024
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.
Garcia-Giralt N et al.
Human Genomics, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.
Cenni V et al.
Cells, 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.
Kim HJ et al.
Frontiers in Cell and Developmental Biology, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 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
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
PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation.
Santi S et al.
Cells, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.
Baban A et al.
Frontiers in Pediatrics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Lamin A molecular compression and sliding as mechanisms behind nucleoskeleton elasticity.
Makarov AA et al.
Nature Communications, 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
Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies.
Cenni V et al.
Oxidative Medicine and Cellular Longevity, 2019
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.
Verdonschot JAJ et al.
Circulation. Heart Failure, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.
Zhou C et al.
Human Molecular Genetics, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress.
Angori S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 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
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
Chami N et al.
The Canadian Journal of Cardiology, 2014
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.
Meinke P et al.
Plos Genetics, 2014
Laminopathy-inducing mutations reduce nuclear import of expressed prelamin A.
Kiel T et al.
The International Journal of Biochemistry & Cell Biology, 2014
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
Yang L et al.
Plos One, 2013
Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria.
Liu B et al.
Cell Metabolism, 2012
Laminopathies and lamin-associated signaling pathways.
Maraldi NM et al.
Journal of Cellular Biochemistry, 2011
Muscular laminopathies: role of prelamin A in early steps of muscle differentiation.
Maraldi NM et al.
Advances in Enzyme Regulation, 2011
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.
Emerson LJ et al.
Biochimica Et Biophysica Acta, 2009
Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cells.
Cenni V et al.
Journal of Proteome Research, 2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Rankin J et al.
American Journal of Medical Genetics. Part A, 2008
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
Zhang Q et al.
Human Molecular Genetics, 2007
Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence.
Caron M et al.
Cell Death and Differentiation, 2007
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).
Mittelbronn M et al.
Brain Pathology (zurich, Switzerland), 2006
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.
Capanni C et al.
Human Molecular Genetics, 2005
Implications for nuclear organization and gene transcription of lamin A/C specific mutations.
Maraldi NM et al.
Advances in Enzyme Regulation, 2005
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muchir A et al.
Muscle & Nerve, 2004