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: mmc1.pdf
Derivation of hiPSC line (ICADRB2i007-A-3) from an individual with osteoporosis linked to ADRB2: c.46G > A.
Krasnova O et al.
Human Cell, 2025
Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.
Semenova PI et al.
Human Cell, 2024
Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.
Tian L et al.
Chronic Diseases and Translational Medicine, 2024
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Rotundo G et al.
Stem Cell Research, 2023
Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.
Mazarico-Altisent I et al.
Frontiers in Endocrinology, 2023
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
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
Mastromatteo E et al.
Bmc Endocrine Disorders, 2014
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