Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 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
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.
Fu X et al.
Frontiers in Endocrinology, 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
Mechanisms of A-Type Lamin Targeting to Nuclear Ruptures Are Disrupted in LMNA- and BANF1-Associated Progerias.
Sears RM et al.
Cells, 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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Single molecule analysis of lamin dynamics.
Serebryannyy LA et al.
Methods (san Diego, Calif.), 2019
Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.
Piekarowicz 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
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 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
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Soria-Valles C et al.
Journal of Medical Genetics, 2016
Prelamin A processing, accumulation and distribution in normal cells and laminopathy disorders.
Casasola A et al.
Nucleus (austin, Tex.), 2016
Skin Disease in Laminopathy-Associated Premature Aging.
McKenna T et al.
The Journal of Investigative Dermatology, 2015
LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.
Alastalo TP et al.
Human Mutation, 2015
Nuclear lamina remodelling and its implications for human disease.
Chojnowski A et al.
Cell and Tissue Research, 2015
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
Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.
Boudoulas KD et al.
Acta Pharmacologica Sinica, 2011
Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).
Plasilova M et al.
Plos One, 2011
Lamin A-linked progerias: is farnesylation the be all and end all?
Smallwood DT et al.
Biochemical Society Transactions, 2010
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
Madej-Pilarczyk A et al.
American Journal of Medical Genetics. Part A, 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
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
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
Kandert S et al.
Human Molecular Genetics, 2007
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
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
Lanktree M et al.
Clinical Genetics, 2007
Laminopathies: multiple disorders arising from defects in nuclear architecture.
Parnaik VK et al.
Journal of Biosciences, 2006
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Verstraeten VL et al.
Human Molecular Genetics, 2006
Nuclear lamins, diseases and aging.
Mattout A et al.
Current Opinion in Cell Biology, 2006
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
Denecke J et al.
Human Mutation, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
Van Esch H et al.
The Journal of Clinical Endocrinology and Metabolism, 2006