Figure S1: Role of calcium-sensing receptor (CaSR) and parathyroid hormone (PTH) in health vs. gain of function CASR mutations (ADH1)
Year: 2026
Type: other
Abstract: The CaSR (encoded by CASR) and PTH normally work together to keep blood calcium stable. A low serum calcium will trigger PTH release and restore serum calcium to normal by its downstream effects on bone, intestine and kidney. In gain of function CASR mutations (ADH1), the CaSR becomes oversensitive, so it suppresses PTH even when calcium is low, causing hypocalcaemia with hypercalciuria.
Source: Figshare
Author: Sayer, John
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7157139288