Associated Papers
Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
Hwang M et al.
International Journal of Molecular Sciences, 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
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.
Chase CL et al.
Journal of the Endocrine Society, 2025
Liraglutide use in pediatric type 2 familial partial lipodystrophy caused by LMNA mutation: a case report.
Li Y et al.
Bmc Pediatrics, 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
"I suffer from several serious diseases." Dunnigan type of familial partial lipodystrophy: a multiple-symptom disorder caused by a genetic mutation.
Płonka-Stępień M et al.
Polish Archives of Internal Medicine, 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
A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.
Rajan R et al.
Scientific Reports, 2024
A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.
Fernández-Pombo A et al.
Diabetes, Obesity & Metabolism, 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
Tirzepatide for Lipodystrophy.
Meral R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ et al.
International Journal of Molecular Sciences, 2024
Precision Medicine to Redefine Insulin Secretion and Monogenic Diabetes-Randomized Controlled Trial (PRISM-RCT) in Chinese patients with young-onset diabetes: design, methods and baseline characteristics.
O CK et al.
Bmj Open Diabetes Research & Care, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 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
Pervasive nuclear envelope ruptures precede ECM signaling and disease onset without activating cGAS-STING in Lamin-cardiomyopathy mice.
En A et al.
Biorxiv : the Preprint Server for Biology, 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
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
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
Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies.
Hartinger R et al.
Cells, 2023
Lamin A/C phosphorylation at serine 22 is a conserved heat shock response to regulate nuclear adaptation during stress.
Virtanen L et al.
Journal of Cell Science, 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
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Metabolic syndrome and underlying genetic determinants-A systematic review.
Rana S et al.
Journal of Diabetes and Metabolic Disorders, 2022
Approach to the Patient With Lipodystrophy.
Fourman LT et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.
Rutkowska L et al.
Diagnostics (basel, Switzerland), 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Molecular Pathology of Laminopathies.
Shin JY et al.
Annual Review of Pathology, 2022
Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.
Simha V et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy.
Czapiewski R et al.
Nature Communications, 2022
Not Enough Fat: Mouse Models of Inherited Lipodystrophy.
Le Lay S et al.
Frontiers in Endocrinology, 2022
Regulation of Lipid Metabolism by Lamin in Mutation-Related Diseases.
Peng Y et al.
Frontiers in Pharmacology, 2022