Associated Papers
ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.
Boerio ML et al.
Circulation. Genomic and Precision Medicine, 2026
Smooth Muscle Dysfunction Drives Cerebrovascular Reserve Failure and End-Organ Brain Injury.
Imai T et al.
Biorxiv : the Preprint Server for Biology, 2026
Structural and functional gastrointestinal abnormalities in ACTA2 R179H mice modeling multisystemic smooth muscle dysfunction syndrome.
Rahman AA et al.
Jci Insight, 2026
Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.
Li J et al.
European Journal of Medical Research, 2026
Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.
Wolfson S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2026
Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy.
Asselman C et al.
Scientific Reports, 2025
Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant.
Zhang LJ et al.
Ophthalmic Genetics, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Treatment of a severe vascular disease using a bespoke CRISPR-Cas9 base editor in mice.
Alves CRR et al.
Nature Biomedical Engineering, 2025
Genomic Editing of a Pathogenic Sequence Variant in ACTA2 Rescues Multisystemic Smooth Muscle Dysfunction Syndrome in Mice.
Ding Q et al.
Circulation, 2025
Immature Acta2R179C/+ smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS.
Kaw A et al.
Nature Communications, 2025
Defective Mitochondrial Respiration in Hereditary Thoracic Aneurysms.
Marcos-Ríos D et al.
Cells, 2025
Mitochondrial Dysfunction: A New Hallmark in Hereditable Thoracic Aortic Aneurysm Development.
Marcos-Ríos D et al.
Cells, 2025
Beyond the usual suspects: Autosomal recessive forms of childhood-onset thoracic aortic disease.
D'hulst S et al.
International Journal of Cardiology, 2025
Genetic variants in childhood-onset dilatation of thoracic aorta in a consanguineous population.
Almostafa AE et al.
International Journal of Cardiology, 2025
Multifocal disease progression and subsequent intervention in patients with actin alpha-2 variants: A single-center experience.
Maigrot JA et al.
The Journal of Thoracic and Cardiovascular Surgery, 2024
Tissue plasminogen activator associated pulmonary hemorrhage in patient with ACTA2-associated arteriopathy.
Hughes TG et al.
Journal of Vascular Surgery Cases and Innovative Techniques, 2024
In vivo Treatment of a Severe Vascular Disease via a Bespoke CRISPR-Cas9 Base Editor.
Alves CRR et al.
Biorxiv : the Preprint Server for Biology, 2024
Development and Assessment of a Point-of-Care Application (Genomic Medicine Guidance) for Heritable Thoracic Aortic Disease.
Patil R et al.
Jmirx Med, 2024
Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.
Nakamura A et al.
Scientific Reports, 2024
A lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish model.
Kalim AS et al.
Pediatric Surgery International, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.
Calderan C et al.
European Journal of Human Genetics : Ejhg, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.
Ceron RH et al.
Science Advances, 2024
Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation.
Gupta N et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc, 2024
Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model.
Sebastian WA et al.
Journal of Human Genetics, 2024
Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Li Q et al.
Frontiers in Pharmacology, 2024
Monogenic Causes of Cerebrovascular Disease in Childhood: A Case Series.
Ostrem BEL et al.
Pediatric Neurology, 2023
Case 319: Multisystemic Smooth Muscle Dysfunction Syndrome.
Tam CWY et al.
Radiology, 2023
Augmenting Mitochondrial Respiration in Immature Smooth Muscle Cells with an ACTA2 Pathogenic Variant Mitigates Moyamoya-like Cerebrovascular Disease.
Kaw A et al.
Research Square, 2023
Nuclear Smooth Muscle α-actin Participates in Vascular Smooth Muscle Cell Differentiation.
Kwartler CS et al.
Nature Cardiovascular Research, 2023
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.
Lupo V et al.
American Journal of Medical Genetics. Part A, 2023
Increasing precision in the management of pediatric neurosurgical cerebrovascular diseases with molecular genetics.
Kahle KT et al.
Journal of Neurosurgery. Pediatrics, 2023
A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome.
Lino Cardenas CL et al.
The Journal of Clinical Investigation, 2023
Nuclear Smooth Muscle α-actin in Vascular Smooth Muscle Cell Differentiation.
Kwartler CS et al.
Research Square, 2023
Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases.
Dorschel KB et al.
Frontiers in Neurology, 2023
Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation.
Morita S et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2022
Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy.
Prentice DA et al.
Neuroradiology, 2022
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A et al.
American Journal of Medical Genetics. Part A, 2022
Nonsurgical treatment of cerebral ischemia associated with ACTA2 cerebral arteriopathy: a case report and literature review.
Muroi A et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022