Disease: Mandibuloacral dysplasia with type A lipodystrophy
- A novel autosomal recessive lipodystrophy syndrome due to homozygous <em>LMNA</em> variant
- A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A
- A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment
- An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon
- Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
- Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome
- Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the <em>ZMPSTE24</em> gene
- Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies
- Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution
- Functional analysis of <em>POLD1</em> p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity
- Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
- Lamin A involvement in ageing processes
- Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development
- Mandibuloacral dysplasia type A in five tunisian patients
- Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China
- Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
- Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing
- Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant
- Pathophysiology of premature aging characteristics in Mendelian progeroid disorders
- Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics
- Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics
- Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
- Uncommon lipodystrophic syndromes