#Aging
#HutchinsonGilfordProgeriaSyndrome
Progressive Increase in Somatic Mutations in Progeroid Aortic Smooth Muscle Cells
LmnaG609G/G609G🐭
6~12 wk
SNV burdens (SComatic, MutationalPatterns) corr.
ROS
DNA damage
ER stress
p53
#GenomeMed 2026
link.springer.com/article/10.1...
#HutchinsonGilfordProgeriaSyndrome
Progressive Increase in Somatic Mutations in Progeroid Aortic Smooth Muscle Cells
LmnaG609G/G609G🐭
6~12 wk
SNV burdens (SComatic, MutationalPatterns) corr.
ROS
DNA damage
ER stress
p53
#GenomeMed 2026
link.springer.com/article/10.1...
August 5, 2026 at 1:00 PM
#Aging
#HutchinsonGilfordProgeriaSyndrome
Progressive Increase in Somatic Mutations in Progeroid Aortic Smooth Muscle Cells
LmnaG609G/G609G🐭
6~12 wk
SNV burdens (SComatic, MutationalPatterns) corr.
ROS
DNA damage
ER stress
p53
#GenomeMed 2026
link.springer.com/article/10.1...
#HutchinsonGilfordProgeriaSyndrome
Progressive Increase in Somatic Mutations in Progeroid Aortic Smooth Muscle Cells
LmnaG609G/G609G🐭
6~12 wk
SNV burdens (SComatic, MutationalPatterns) corr.
ROS
DNA damage
ER stress
p53
#GenomeMed 2026
link.springer.com/article/10.1...
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases #GenomeMed #MassSpec genomemedicine.biomedcentral.com/articles/10....
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases - Genome Medicine
Background Only half of individuals with suspected rare diseases receive a genetic diagnosis following genomic testing. A genetic diagnosis allows access to appropriate care, restores reproductive con...
genomemedicine.biomedcentral.com
May 22, 2025 at 1:08 PM
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases #GenomeMed #MassSpec genomemedicine.biomedcentral.com/articles/10....
Multi-Organ #Aging 🐭 #Proteomics #Metabolomics
4/8/12/20 mo
10 organs
15-protein (C4b Clu Hba-a1 Hbb-bs Hpx Igh2b/c/m Itih3 Fgb/g Nnt Rgn Pzp Slc4a1)⬆️
3-protein (Eif4g2 Emd Dnm1l)⬇️
with age across organs
NAD+ ⬇️in 7 organs but ⬆️in heart with age
#GenomeMed 2025
link.springer.com/article/10.1...
4/8/12/20 mo
10 organs
15-protein (C4b Clu Hba-a1 Hbb-bs Hpx Igh2b/c/m Itih3 Fgb/g Nnt Rgn Pzp Slc4a1)⬆️
3-protein (Eif4g2 Emd Dnm1l)⬇️
with age across organs
NAD+ ⬇️in 7 organs but ⬆️in heart with age
#GenomeMed 2025
link.springer.com/article/10.1...
October 15, 2025 at 11:49 AM
Multi-Organ #Aging 🐭 #Proteomics #Metabolomics
4/8/12/20 mo
10 organs
15-protein (C4b Clu Hba-a1 Hbb-bs Hpx Igh2b/c/m Itih3 Fgb/g Nnt Rgn Pzp Slc4a1)⬆️
3-protein (Eif4g2 Emd Dnm1l)⬇️
with age across organs
NAD+ ⬇️in 7 organs but ⬆️in heart with age
#GenomeMed 2025
link.springer.com/article/10.1...
4/8/12/20 mo
10 organs
15-protein (C4b Clu Hba-a1 Hbb-bs Hpx Igh2b/c/m Itih3 Fgb/g Nnt Rgn Pzp Slc4a1)⬆️
3-protein (Eif4g2 Emd Dnm1l)⬇️
with age across organs
NAD+ ⬇️in 7 organs but ⬆️in heart with age
#GenomeMed 2025
link.springer.com/article/10.1...