Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24265
Abstract: The genetic causes of atrial fibrillation (AF) with slow conduction are unknown. Eight kindreds with familial AF and slow conduction, including a family affected by early‐onset AF, heart block, and incompletely penetrant nonischemic dilated cardiomyopathy… read more here.
Keywords: atrial fibrillation; fibrillation slow; slow conduction; pde4dip ... See more keywords
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma
Sign Up to like & getrecommendations! Published in 2018 at "Nature Communications"
DOI: 10.1038/s41467-018-05029-3
Abstract: Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with germline mutations in DICER1, a ribonuclease involved in microRNA processing, have increased risk… read more here.
Keywords: recurrent homozygous; microduplication; pineoblastoma; pediatric adult ... See more keywords
Hemodynamic stress‐induced cardiac remodelling is not modulated by ablation of phosphodiesterase 4D interacting protein
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.17468
Abstract: Adrenergic stimulation in the heart activates the protein kinase A (PKA), which phosphorylates key proteins involved in intracellular Ca2+ handling. PKA is held in proximity to its substrates by protein scaffolds, the A kinase anchoring… read more here.
Keywords: stress; phosphodiesterase interacting; shunt; pde4dip ... See more keywords