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2024 22
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Germline multigene panel testing in acute and chronic pancreatitis.
Ramsey ML, Heald B, Gokun Y, Baker J, Groce JR, Han S, Hart PA, Krishna SG, Lara LF, Lee PJ, Papachristou GI, Pearlman R, Poll S, Roberts ME, Stanich PP. Ramsey ML, et al. PLoS One. 2024 Aug 22;19(8):e0307076. doi: 10.1371/journal.pone.0307076. eCollection 2024. PLoS One. 2024. PMID: 39172977 Free PMC article.
METHODS: Individuals who underwent germline multigene testing for pancreatitis susceptibility genes (CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1) through a large commercial laboratory between 2017 and 2022 were included. ...
METHODS: Individuals who underwent germline multigene testing for pancreatitis susceptibility genes (CASR, CFTR, CPA1, CTRC, PRSS1, S …
Genetic variants predisposing to an increased risk of kidney stone disease.
Lovegrove CE, Goldsworthy M, Haley J, Smelser D, Gorvin C, Hannan FM, Mahajan A, Suri M, Sadeghi-Alavijeh O, Moochhala SH, Gale DP, Carey D, Holmes MV, Furniss D, Thakker RV, Howles SA. Lovegrove CE, et al. J Clin Invest. 2025 May 15;135(15):e186915. doi: 10.1172/JCI186915. eCollection 2025 Aug 1. J Clin Invest. 2025. PMID: 40372791 Free PMC article.
The utility of pathway modulation was estimated via drug target MR, and the effects of variants on calcium-sensing receptor (CaSR) signaling were characterized.RESULTSSeventy-nine independent KSD-associated genetic signals at 71 loci were identified. . …
The utility of pathway modulation was estimated via drug target MR, and the effects of variants on calcium-sensing receptor …
Upregulated Calcium Sensing Receptor Mediates Pulmonary Venous Remodeling in Pulmonary Hypertension.
Mo Q, Wen X, Wang L, Cao W, Liang J, Li S, Fu Z, Gao X, Xue Y, Yuan H, Xu Z, Hong W, Zhou Y, Peng G. Mo Q, et al. Acta Physiol (Oxf). 2026 Jan;242(1):e70142. doi: 10.1111/apha.70142. Acta Physiol (Oxf). 2026. PMID: 41387174
AIM: The mechanism of pulmonary venous remodeling (PVR) remains unclear. We tested the role of the calcium sensing receptor (CaSR) in PVR in pulmonary hypertension (PH). METHODS: PVR was investigated in two PH models, monocrotaline (MCT)-induced PH (MC …
AIM: The mechanism of pulmonary venous remodeling (PVR) remains unclear. We tested the role of the calcium sensing receptor …
Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.
Bircan A, Kuru N, Dereli O, Selçuk B, Adebali O. Bircan A, et al. PLoS Comput Biol. 2024 Nov 12;20(11):e1012591. doi: 10.1371/journal.pcbi.1012591. eCollection 2024 Nov. PLoS Comput Biol. 2024. PMID: 39531485 Free PMC article.
Despite advancements in understanding the structure and functions of the Calcium Sensing Receptor (CaSR), gaps persist in our knowledge of the specific functions of its residues. ...The analysis revealed exceptional conservation of the CaSR subf …
Despite advancements in understanding the structure and functions of the Calcium Sensing Receptor (CaSR), gaps p …
CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.
Charoenngam N, Wattanachayakul P, Mannstadt M. Charoenngam N, et al. J Clin Endocrinol Metab. 2025 Jan 21;110(2):297-302. doi: 10.1210/clinem/dgae769. J Clin Endocrinol Metab. 2025. PMID: 39484850
CONTEXT: Genetic testing of the calcium-sensing receptor (CASR) gene is crucial for confirming diagnoses of familial hypocalciuric hypercalcemia type I (FHH1) and autosomal dominant hypocalcemia type I (ADH1). Therefore, we created a publicly accessibl …
CONTEXT: Genetic testing of the calcium-sensing receptor (CASR) gene is crucial for confirming diagnoses of fami …
Functional analysis reveals calcium-sensing receptor gene regulating cell-cell junction in renal tubular epithelial cells.
Zhou Z, Gao P, Zhang T, Yang Y, Ding Q, Wu Z, Wang L. Zhou Z, et al. Int Urol Nephrol. 2024 Jul;56(7):2165-2177. doi: 10.1007/s11255-024-03948-3. Epub 2024 Feb 19. Int Urol Nephrol. 2024. PMID: 38372840
PURPOSE: Calcium-sensing receptor (CASR) influences the expression pattern of multiple genes in renal tubular epithelial cells. The objective of this inquiry was to explore the molecular mechanisms of CASR in renal tubular epithelial cells and n …
PURPOSE: Calcium-sensing receptor (CASR) influences the expression pattern of multiple genes in renal tubular ep …
Both calcium-sensing receptor intracellular C-terminal domains support homodimer signaling.
Binmahfouz LS, Goolam MA, Barker E, Conigrave AD, Ward DT. Binmahfouz LS, et al. Mol Pharmacol. 2025 Nov;107(11):100077. doi: 10.1016/j.molpha.2025.100077. Epub 2025 Sep 25. Mol Pharmacol. 2025. PMID: 41130021 Free PMC article.
The extracellular Ca(2+)-induced intracellular Ca(2+) mobilization elicited by CaSR(1)(S170A):CaSR(2)(F801A) was significantly enhanced by disabling one T888 inhibitory phosphorylation site in either CaSR(1)(S170A/T888A):CaSR(2)(F801A) or CaSR(1 …
The extracellular Ca(2+)-induced intracellular Ca(2+) mobilization elicited by CaSR(1)(S170A):CaSR(2)(F801A) was significantly …
Analysis of Calcium-Sensing Receptor Signaling Using Dual Luciferase Assays.
Sörgel FL. Sörgel FL. Methods Mol Biol. 2025;2861:71-85. doi: 10.1007/978-1-0716-4164-4_6. Methods Mol Biol. 2025. PMID: 39395098
Luciferases catalyze a reaction that involves the emission of light, a phenomenon referred to as "bioluminescence". The calcium-sensing receptor (CaSR), a G protein-coupled receptor (GPCR), induces characteristic signaling pathways that stimulate extra …
Luciferases catalyze a reaction that involves the emission of light, a phenomenon referred to as "bioluminescence". The calcium-se …
Molecular mechanisms underlying glucose-dependent insulinotropic polypeptide secretion in human duodenal organoids.
Guccio N, Alcaino C, Miedzybrodzka EL, Santos-Hernández M, Smith CA, Davison A, Bany Bakar R, Kay RG, Reimann F, Gribble FM. Guccio N, et al. Diabetologia. 2025 Jan;68(1):217-230. doi: 10.1007/s00125-024-06293-3. Epub 2024 Oct 23. Diabetologia. 2025. PMID: 39441374 Free PMC article.
The G protein-coupled receptor genes GPR142 and CASR were knocked out to evaluate roles in amino acid sensing. RESULTS: RNA-seq of human duodenal K cells revealed enrichment of several G protein-coupled receptors involved in nutrient sensing, including FFAR1, GPBAR1, GPR11 …
The G protein-coupled receptor genes GPR142 and CASR were knocked out to evaluate roles in amino acid sensing. RESULTS: RNA-seq of hu …
Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone assays.
Höppner J, Jüppner H. Höppner J, et al. Curr Opin Nephrol Hypertens. 2024 Jul 1;33(4):375-382. doi: 10.1097/MNH.0000000000000999. Epub 2024 May 3. Curr Opin Nephrol Hypertens. 2024. PMID: 38701324 Free PMC article. Review.
The underlying genetic mutations impair parathyroid gland development, involve the PTH gene itself, or alter function of the calcium-sensing receptor (CaSR) or its downstream signaling partners that contribute to regulation of PTH synthesis or secretio …
The underlying genetic mutations impair parathyroid gland development, involve the PTH gene itself, or alter function of the calcium- …
45 results