Associated Papers
PRKG1 pathogenic variants cause thoracic aortic dissection with minimal aortic dilation: Insights from the UTHealth Houston multidisciplinary aortic and vascular disease conference.
Askari A et al.
Journal of Vascular Surgery Cases and Innovative Techniques, 2026
Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability To Cause Aortopathy.
Jost ME et al.
Jacc. Basic to Translational Science, 2026
Cardiac Involvement in a Patient With Aortic Aneurysm, Familial Thoracic-8.
Sayama K et al.
Jacc. Case Reports, 2025
Successful treatment of bilateral familial iris flocculi associated with aortic valve abnormalities.
Redden LD et al.
American Journal of Ophthalmology Case Reports, 2025
An auto-inhibited state of protein kinase G and implications for selective activation.
Sharma R et al.
Elife, 2022
RBM10 Deficiency Is Associated With Increased Immune Activity in Lung Adenocarcinoma.
Liu B et al.
Frontiers in Oncology, 2021
A substitution in cGMP-dependent protein kinase 1 associated with aortic disease induces an active conformation in the absence of cGMP.
Chan MH et al.
The Journal of Biological Chemistry, 2020
The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).
Shalhub S et al.
Journal of Vascular Surgery, 2019
Aortic pathology from protein kinase G activation is prevented by an antioxidant vitamin B12 analog.
Schwaerzer GK et al.
Nature Communications, 2019
Commentary: Timing for aortic surgery in rare genetic variants: When prevention warrants intervention?
Bisleri G
The Journal of Thoracic and Cardiovascular Surgery, 2019
Managing the aorta in patients with a PRKG1 mutation.
Norton EL et al.
The Journal of Thoracic and Cardiovascular Surgery, 2019
Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection.
Zhang W et al.
Bmc Medical Genetics, 2018
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
PRKG1 and genetic diagnosis of early-onset thoracic aortic disease.
Gago-Díaz M et al.
European Journal of Clinical Investigation, 2016
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Guo DC et al.
American Journal of Human Genetics, 2013