Associated Papers
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
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
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Founder Pathogenic Variant in LMNA and Its Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
Manav Yigit Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
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
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
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
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
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 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
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente GD et al.
Frontiers in Cardiovascular Medicine, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.
Jéru I et al.
Genes, 2021
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.
Turkyilmaz A et al.
Clinical Dysmorphology, 2021
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
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Genetic variants identified by target next-generation sequencing in heart transplant patients with dilated cardiomyopathy.
Martins E et al.
Revista Portuguesa De Cardiologia, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Molecular characterization of Portuguese patients with dilated cardiomyopathy.
Sousa A et al.
Revista Portuguesa De Cardiologia, 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
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
Roca I et al.
International Journal of Molecular Sciences, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Cenni V et al.
Ageing Research Reviews, 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
Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes due to a homozygous missense LMNA mutation.
Zhang S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.
Guo H et al.
Gene, 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
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
Carboni N et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.
Al-Haggar M et al.
European Journal of Human Genetics : Ejhg, 2012
Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment.
Camozzi D et al.
Histochemistry and Cell Biology, 2012
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R et al.
European Journal of Human Genetics : Ejhg, 2011
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
Subramanyam L et al.
Clinical Genetics, 2010
Diseases of the nuclear envelope.
Worman HJ et al.
Cold Spring Harbor Perspectives in Biology, 2010
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
Møller DV et al.
European Journal of Heart Failure, 2009
Mandibuloacral dysplasia type A in childhood.
Garavelli L et al.
American Journal of Medical Genetics. Part A, 2009
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.
Agarwal AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.
Lombardi F et al.
Clinical Genetics, 2008
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
Zirn B et al.
American Journal of Medical Genetics. Part A, 2008
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
Lombardi F et al.
The Journal of Clinical Endocrinology and Metabolism, 2007