Author
University of OxfordORCID 0000-0002-1438-3220Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes…·Rajesh V. Thakker
The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.
Yoanna Ariosa-Morejon, Alberto Santos, Román Fischer…·Tonia L. Vincent
The paper uses in vivo pulsed SILAC to measure protein incorporation in mice tissues, finding reduced turnover and molecular changes linked to aging.
Fadil M. Hannan, Mark Stevenson, Asha L. Bayliss…·Rajesh V. Thakker
This study creates a mouse model with an AP2S1 mutation causing FHH3, showing hypercalcemia and demonstrating cinacalcet's effect on calcium levels.
Sarah Howles, Akira Wiberg, Michelle E. Goldsworthy…·Dominic Furniss
This study identifies 20 genetic loci associated with kidney stone disease, including novel variants in CYP24A1 and DGKD, which influence vitamin D metabolism and calcium-sensing receptor signaling.
Diane T. Smelser, Fadil M. Hannan, Raghu Prasad Rao Metpally…·Gerda E. Breitwieser
The paper examines how common variants in the calcium-sensing receptor gene influence the relationship between serum calcium levels and coronary artery disease risk.