Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 2025
Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature.
Pekmezci A et al.
Archives of Endocrinology and Metabolism, 2025
Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series.
Banerjee S et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2025
Decreasing Lamin A Triggers Cell Fate Transitions through Heterochromatin-Nuclear Periphery Detethering.
Sun L et al.
Biomaterials Research, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Case Report: Metreleptin treatment enables successful pregnancy in a female with congenital generalized lipodystrophy.
Somali M et al.
Frontiers in Endocrinology, 2025
Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
Díaz-López EJ et al.
International Journal of Molecular Sciences, 2024
Perinuclear damage from nuclear envelope deterioration elicits stress responses that contribute to LMNA cardiomyopathy.
Sikder K et al.
Science Advances, 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
Sex differences in symptom presentation and their impact on diagnostic accuracy in Werner syndrome.
Kaneko H et al.
Geriatrics & Gerontology International, 2024
Intermediate filaments in the heart: The dynamic duo of desmin and lamins orchestrates mechanical force transmission.
West G et al.
Current Opinion in Cell Biology, 2023
A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.
Huang S et al.
Journal of Diabetes Investigation, 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
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I et al.
Diabetes, Obesity & Metabolism, 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
Lipodystrophy-associated progeroid syndromes.
Araújo-Vilar D et al.
Hormones (athens, Greece), 2022
Lamin A/C-dependent chromatin architecture safeguards naïve pluripotency to prevent aberrant cardiovascular cell fate and function.
Wang Y et al.
Nature Communications, 2022
Severe aortic stenosis during leptin replacement therapy in a patient with generalized lipodystrophy-associated progeroid syndrome due to an LMNA variant: A case report.
Sasako T et al.
Journal of Diabetes Investigation, 2022
LINE-1 RNA causes heterochromatin erosion and is a target for amelioration of senescent phenotypes in progeroid syndromes.
Della Valle F et al.
Science Translational Medicine, 2022
Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.
Jang S et al.
Frontiers in Pediatrics, 2022
Cardiac phenotype in familial partial lipodystrophy.
Eldin AJ et al.
Clinical Endocrinology, 2021
Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes.
Shah PP et al.
Cell Stem Cell, 2021
Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis.
Yukina M et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Atalaia A et al.
Journal of Neuromuscular Diseases, 2021
Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies.
Liu SY et al.
Nucleus (austin, Tex.), 2020
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.
Hosoe J et al.
Diabetes Research and Clinical Practice, 2020
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.
Magno S et al.
Journal of the Endocrine Society, 2020
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
Hussain I et al.
Journal of the Endocrine Society, 2020
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
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report.
Jiajue R et al.
Calcified Tissue International, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.
Fukaishi T et al.
Endocrine Journal, 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
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.
Soyaltin UE et al.
Clinical Diabetes and Endocrinology, 2020
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities.
Akinci B et al.
Current Diabetes Reports, 2018
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Hussain I et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Lipodystrophic laminopathies: Diagnostic clues.
Guillín-Amarelle C et al.
Nucleus (austin, Tex.), 2018
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.
Sahinoz M et al.
Clinical Diabetes and Endocrinology, 2018
Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.
Montenegro RM et al.
Frontiers in Endocrinology, 2018
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
Lamin Mutations Accelerate Aging via Defective Export of Mitochondrial mRNAs through Nuclear Envelope Budding.
Li Y et al.
Current Biology : Cb, 2016
Molecular insights into the premature aging disease progeria.
Vidak S et al.
Histochemistry and Cell Biology, 2016
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy.
Marcos-Alonso S et al.
Pediatric Transplantation, 2016