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CDKL1 Variants and Their Role in Thoracic Aortic Aneurysm and Dissection: Illuminating Cilia-Linked Pathogenesis
Posted inCardiology Specialties

CDKL1 Variants and Their Role in Thoracic Aortic Aneurysm and Dissection: Illuminating Cilia-Linked Pathogenesis

Posted by MedXY By MedXY 10/14/2025
This study identifies CDKL1 gene variants impairing ciliary function as novel genetic contributors to thoracic aortic aneurysm and dissection, highlighting an emerging pathogenic link between cilia biology and vascular disease.
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Distinct Small Vessel Disease Phenotype Linked to Monoallelic NOTCH3 Loss-of-Function Variants: Differentiation from CADASIL and Clinical Implications
Posted inClinical Updates Neurology news Specialties

Distinct Small Vessel Disease Phenotype Linked to Monoallelic NOTCH3 Loss-of-Function Variants: Differentiation from CADASIL and Clinical Implications

Posted by MedXY By MedXY 09/04/2025
Monoallelic NOTCH3 loss-of-function variants cause a subclinical small vessel disease distinct from CADASIL, with white matter changes but lower stroke risk; cardiovascular risk factors and aging exacerbate the phenotype.
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