Associated Papers
Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.
Anum et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos 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
Multi-omic analysis of mandibuloacral dysplasia type A patient iPSC-derived MSC senescence reveals miR-311 as a novel biomarker for MSC senescence.
He L et al.
Human Molecular Genetics, 2023
DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies.
Campos JTAM et al.
Genetics and Molecular Biology, 2022
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant.
Araújo-Vilar D et al.
Journal of Clinical Medicine, 2021
Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile.
Alarcón PI et al.
American Journal of Medical Genetics. Part A, 2019
Tissue-Specific Influence of Lamin A Mutations on Notch Signaling and Osteogenic Phenotype of Primary Human Mesenchymal Cells.
Perepelina K et al.
Cells, 2019
Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases.
Samson C et al.
Nucleic Acids Research, 2018
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 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
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.
Ozer L et al.
Clinical Dysmorphology, 2016
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
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
[Laminopathies: one gene, several diseases].
Bertrand AT et al.
Biologie Aujourd'hui, 2011
Diseases of the nuclear envelope.
Worman HJ et al.
Cold Spring Harbor Perspectives in Biology, 2010
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
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
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.
Kosho T et al.
American Journal of Medical Genetics. Part A, 2007
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
Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases.
Kudlow BA et al.
Nature Reviews. Molecular Cell Biology, 2007
Nuclear lamins: laminopathies and their role in premature ageing.
Broers JL et al.
Physiological Reviews, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
Garg A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005