Associated Papers
Homozygous LMNA c.1579C>T mutation manifesting as mandibuloacral dysplasia type A in a pediatric patient.
He S et al.
Indian Journal of Dermatology, Venereology and Leprology, 2025
Natural history of skeletal muscle laminopathies: a 2-year prospective study.
Santovito LS et al.
Neuromuscular Disorders : Nmd, 2025
MAM-STAT3-Driven Mitochondrial Ca+2 Upregulation Contributes to Immunosenescence in Type A Mandibuloacral Dysplasia Patients.
Padhiar AA et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.
Ge Y et al.
Frontiers in Medicine, 2025
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
Disorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A.
Jin W et al.
Nature Communications, 2024
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.
Wang J et al.
Pediatric Research, 2024
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Tiwari V et al.
Life Sciences, 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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
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
A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.
Carvalho AA et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 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
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
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
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
Pande S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.
Wei SJ et al.
Bmc Genomics, 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
Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging.
Trani JP et al.
Life Science Alliance, 2022
Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland.
Neubauer J et al.
Forensic Science International, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Skalníková M et al.
International Journal of Molecular Sciences, 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
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
Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions.
Doanh LH et al.
Jaad Case Reports, 2021
Protein structural and mechanistic basis of progeroid laminopathies.
Marcelot A et al.
The Febs Journal, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 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
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
[Clinical features and genetic diagnosis of four cases with progeria syndrome].
Zhu LY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
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
Genomic instability and DNA replication defects in progeroid syndromes.
Burla R et al.
Nucleus (austin, Tex.), 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies.
Cappelletti C et al.
Nucleus (austin, Tex.), 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
Lamin Mutations Accelerate Aging via Defective Export of Mitochondrial mRNAs through Nuclear Envelope Budding.
Li Y et al.
Current Biology : Cb, 2016
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Yassaee VR et al.
Gene, 2016
Prelamin A processing, accumulation and distribution in normal cells and laminopathy disorders.
Casasola A et al.
Nucleus (austin, Tex.), 2016