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
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 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
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
Phenotypic Differences Among Familial Partial Lipodystrophy Due to LMNA or PPARG Variants.
Vasandani C et al.
Journal of the Endocrine Society, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Cardiac phenotype in familial partial lipodystrophy.
Eldin AJ et al.
Clinical Endocrinology, 2021
Insulin resistance in diabetes: The promise of using induced pluripotent stem cell technology.
Elsayed AK et al.
World Journal of Stem Cells, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation.
Lin EW et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
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
Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.
Kwapich M et al.
Diabetes & Metabolism, 2019
Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants.
Patni N et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Inflammatory myopathy in the context of an unusual overlapping laminopathy.
Guillín-Amarelle C et al.
Archives of Endocrinology and Metabolism, 2018
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C et al.
Nucleus (austin, Tex.), 2018
[A complex case of diabetes due to LMNA mutation].
Ambonville C et al.
La Revue De Medecine Interne, 2017
LMNA-associated partial lipodystrophy: anticipation of metabolic complications.
Jeru I et al.
Journal of Medical Genetics, 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
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Arbustini E et al.
Journal of the American College of Cardiology, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.
Türk M et al.
Neuromuscular Disorders : Nmd, 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
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.
Saini-Chohan HK et al.
Journal of Lipid Research, 2012
LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations.
Bidault G et al.
Biochemical Society Transactions, 2011
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.
Saha B et al.
Molecular Syndromology, 2010
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
Subramanyam L et al.
Clinical Genetics, 2010
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
McPherson E et al.
American Journal of Medical Genetics. Part A, 2009
Long-term outcome and risk stratification in dilated cardiolaminopathies.
Pasotti M et al.
Journal of the American College of Cardiology, 2008
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
Araújo-Vilar D et al.
Clinical Endocrinology, 2008
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.
Decaudain A et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.
Hegele RA et al.
Journal of Lipid Research, 2007
Phenomics and lamins: from disease to therapy.
Hegele RA et al.
Experimental Cell Research, 2007
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
Lanktree M et al.
Clinical Genetics, 2007
Nuclear lamins: laminopathies and their role in premature ageing.
Broers JL et al.
Physiological Reviews, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
LMNA mutation position predicts organ system involvement in laminopathies.
Hegele R
Clinical Genetics, 2005
Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases.
Maraldi NM et al.
Journal of Cellular Physiology, 2005
A-type lamin-linked lipodystrophies.
Vigouroux C et al.
Novartis Foundation Symposium, 2005
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
Vantyghem MC et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
Goizet C et al.
Journal of Medical Genetics, 2004
LMNA mutations in atypical Werner's syndrome.
Bonne G et al.
Lancet (london, England), 2003
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.
Simha V et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.
Haque WA et al.
Diabetes Care, 2003
Nuclear envelope proteins and neuromuscular diseases.
Ostlund C et al.
Muscle & Nerve, 2003
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety.
Haque WA et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2002