Associated Papers
Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
Hwang M et al.
International Journal of Molecular Sciences, 2026
Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions.
Chong AS et al.
Jci Insight, 2026
Altered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2.
Maung JN et al.
The Journal of Clinical Investigation, 2026
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.
Duque-Cordoba PA et al.
The Application of Clinical Genetics, 2026
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Nuclear envelope and chromatin choreography direct cellular differentiation.
Nair A et al.
Nucleus (austin, Tex.), 2025
Coincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy.
Krienke M et al.
Jcem Case Reports, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome.
Gilio D et al.
Clinical Endocrinology, 2025
Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.
Zhou X et al.
Biogerontology, 2025
Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.
Zielińska A et al.
Cells, 2025
Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report.
Li Y et al.
Bmc Pediatrics, 2025
Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.
Wong LY et al.
Scientific Reports, 2025
Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.
Valerio CM et al.
Diabetology & Metabolic Syndrome, 2025
The Cardiovascular Magnetic Resonance Phenotype of Lamin Heart Disease.
Topriceanu CC et al.
Jacc. Cardiovascular Imaging, 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
Ambiguous Clinical Presentations and Imaging Findings in Genetic Dilated Cardiomyopathy.
Ahmed MU et al.
Jacc. Case Reports, 2024
A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.
Rajan R et al.
Scientific Reports, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & Metabolism, 2024
Tirzepatide for Lipodystrophy.
Meral R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.
Veras VR et al.
Diabetology & Metabolic Syndrome, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ et al.
International Journal of Molecular Sciences, 2024
Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation.
Grass T et al.
Cell Reports. Medicine, 2024
Navigating Lipodystrophy: Insights from Laminopathies and Beyond.
Krüger P et al.
International Journal of Molecular Sciences, 2024
Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.
Morguetti MJ et al.
Archives of Endocrinology and Metabolism, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 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
A Very-Low-Calorie Diet Can Cause Remission of Diabetes Mellitus and Hypertriglyceridemia in Familial Partial Lipodystrophy.
Foss-Freitas MC et al.
Obesity Facts, 2024
Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study.
Guidorizzi NR et al.
Frontiers in Endocrinology, 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
Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction.
Schena E et al.
Cells, 2023
Enhanced cell viscosity: A new phenotype associated with lamin A/C alterations.
Jebane C et al.
Iscience, 2023
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
Waist circumference is independently associated with liver steatosis and fibrosis in LMNA-related and unrelated Familial Partial Lipodystrophy women.
Viola LF et al.
Diabetology & Metabolic Syndrome, 2023
The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation-Related Lipodystrophy.
Xiao C et al.
Advanced Biology, 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
Refining Evaluation of Bone Mass and Adipose Distribution in Dunnigan Syndrome.
Moreira MLM et al.
International Journal of Molecular Sciences, 2023
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Çavdarlı B et al.
Annals of Human Genetics, 2023
Drosophila Models Reveal Properties of Mutant Lamins That Give Rise to Distinct Diseases.
Walker SG et al.
Cells, 2023
An In silico Approach towards Finding the Cancer-Causing Mutations in Human MET Gene.
Laskar FS et al.
International Journal of Genomics, 2023
Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.
Kim HJ et al.
Frontiers in Cell and Developmental Biology, 2023