Associated Papers
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.
Perez-Dionisio E et al.
Archives of Endocrinology and Metabolism, 2025
LMNA R482L mutation causes impairments in C2C12 myoblasts subpopulations, alterations in metabolic reprogramming during differentiation, and oxidative stress.
Ivanova OA et al.
Scientific Reports, 2025
The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.
Shchagina O et al.
International Journal of Molecular Sciences, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Tirzepatide for Lipodystrophy.
Meral R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy.
Santos JL et al.
Frontiers in Genetics, 2024
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
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
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Mosbah H et al.
Orphanet Journal of Rare Diseases, 2022
LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient.
Perepelina K et al.
Frontiers in Cardiovascular Medicine, 2022
Genetics of lipodystrophy syndromes.
Jéru I
Presse Medicale (paris, France : 1983), 2021
A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
Treiber G et al.
European Journal of Endocrinology, 2021
Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.
Ignatieva E et al.
International Journal of Molecular Sciences, 2021
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene.
Araújo-Vilar D et al.
Journal of Clinical Medicine, 2021
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Atalaia A et al.
Journal of Neuromuscular Diseases, 2021
Emerging roles of lamins and DNA damage repair mechanisms in ovarian cancer.
Sengupta D et al.
Biochemical Society Transactions, 2020
LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile.
Ignatieva EV et al.
Genes, 2020
Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2.
Varlet AA et al.
Cells, 2020
Lamin A/C and Emerin depletion impacts chromatin organization and dynamics in the interphase nucleus.
Ranade D et al.
Bmc Molecular and Cell Biology, 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
Tissue-Specific Influence of Lamin A Mutations on Notch Signaling and Osteogenic Phenotype of Primary Human Mesenchymal Cells.
Perepelina K et al.
Cells, 2019
R482L Mutation of the LMNA Gene Affects Dynamics of C2C12 Myogenic Differentiation and Stimulates Formation of Intramuscular Lipid Droplets.
Khromova NV et al.
Biochemistry. Biokhimiia, 2019
The Cutting Edge: The Role of mTOR Signaling in Laminopathies.
Chiarini F et al.
International Journal of Molecular Sciences, 2019
Complex effects of laminopathy mutations on nuclear structure and function.
Ho R et al.
Clinical Genetics, 2019
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Emerin modulates spatial organization of chromosome territories in cells on softer matrices.
Pradhan R et al.
Nucleic Acids Research, 2018
Lamin A/C mutation associated with lipodystrophy influences adipogenic differentiation of stem cells through interaction with Notch signaling.
Perepelina K et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.
Vigouroux C et al.
Nucleus (austin, Tex.), 2018
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET et al.
Circulation. Cardiovascular Genetics, 2017
Clinical Utility Gene Card for: Familial partial lipodystrophy.
Jéru I et al.
European Journal of Human Genetics : Ejhg, 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
LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A.
Tu Y et al.
Nucleus (austin, Tex.), 2016
Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl.
Krawiec P et al.
Bmc Pediatrics, 2016
Laminopathy-inducing mutations reduce nuclear import of expressed prelamin A.
Kiel T et al.
The International Journal of Biochemistry & Cell Biology, 2014
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
Scharner J et al.
Proteins, 2014
LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.
Chirico V et al.
Diabetes & Metabolism, 2014
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
[Nuclear lamins regulate osteogenic differentiation of mesenchymal stem cells].
Bogdanova MA et al.
Tsitologiia, 2014
[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy].
Caldas D et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2013
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.
Zwerger M et al.
Human Molecular Genetics, 2013
Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
Yang L et al.
Plos One, 2013