Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
40664210 (PubMed )
Supplement: mmc2.xlsx › Table_S8_AOU_variants
Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.
Tian L et al.
Chronic Diseases and Translational Medicine, 2024
The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.
Kwon EJ et al.
Annals of Clinical and Laboratory Science, 2022
A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Li N et al.
Chinese Medical Journal, 2021
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B et al.
European Journal of Endocrinology, 2016
Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
Lia-Baldini AS et al.
European Journal of Endocrinology, 2013
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.
Waller S et al.
European Journal of Pediatrics, 2004
Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.
Hu J et al.
Journal of Cellular and Molecular Medicine, 0
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