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Author

L. Urpa

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Open access Aug 2026

Genetic and environmental risk factors for intracranial aneurysm and subarachnoid haemorrhage among patients with Autosomal Dominant Polycystic Kidney Disease

Intracranial aneurysms (IA) and their rupture (subarachnoid haemorrhage, SAH) are a rare but serious complication of autosomal dominant polycystic kidney disease (ADPKD). Both genetic and environmental risk factors contribute to the pathogenesis of IA and SAH, but specific information on risk factors in the ADPKD popul...

L. Urpa, S. Osman, T. Visser et al. · 0 citations
Open access Jul 2026

INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability

The discovery of a family with six affected members carrying a heterozygous loss- of-function variant in INTS6 highlights the critical role of INTS6 in transcriptional regulation of human neurodevelopment and reinforces its association with NDDs.

Nelli Jalkanen, K. Trontti, Antto J. Norppa et al. · 0 citations

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