Associated Papers
Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
Hwang M et al.
International Journal of Molecular Sciences, 2026
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Mohar NP et al.
Science Advances, 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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.
Kim HJ et al.
Frontiers in Cell and Developmental Biology, 2023
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
Atalaia A et al.
Journal of Neuromuscular Diseases, 2021
Diagnostic Value of Anthropometric Measurements for Familial Partial Lipodystrophy, Dunnigan Variety.
Vasandani C et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.
Earle AJ et al.
Nature Materials, 2020
Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.
Sekizkardes H et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 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
First report of a novel LMNA mutation in a Chinese family with limb-girdle muscular dystrophy.
Hong G et al.
Journal of Genetics, 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
Systematic identification of pathological lamin A interactors.
Dittmer TA et al.
Molecular Biology of the Cell, 2014
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
Dialynas G et al.
Human Molecular Genetics, 2012
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J et al.
Human Mutation, 2011
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
van Tintelen JP et al.
American Heart Journal, 2007
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
UNUSUAL PRESENTATIONS OF LMNA-ASSOCIATED LIPODYSTROPHY WITH COMPLEX PHENOTYPES AND GENERALIZED FAT LOSS: WHEN THE GENETIC DIAGNOSIS UNCOVERS NOVEL FEATURES.
de Andrade NXS et al.
Aace Clinical Case Reports, 0