CASR (Calcium Sensing Receptor)

These findings reveal a TMAO-HULC signaling axis that positively influences the levels of oncogenic miRNAs. However, since a single cell line model was used in this study, it needs for further investigation across diverse CRC cell lines to confirm its generalizability.

Although a rare cause of hypercalcemia, familial hypocalciuric hypercalcemia (FHH) is an inherited condition most often due to a missense mutation in the calcium-sensing receptor (CASR) gene, giving rise to increased calcium levels with elevated parathyroid hormone (PTH) levels and hypocalciuria. Many clinical features of FHH show a high degree of overlap with the much more common disorder of primary hyperparathyroidism (PHPT), making the correct diagnosis a challenge since surgery should be avoided in FHH. In the current case, although PHPT was initially suspected based on urine biochemistry and imaging, FHH-1 and metastatic micropapillary thyroid cancer were diagnosed following thyroid surgery. Moreover, an underlying novel missense CASR mutation shared with the patient's biological father was uncovered. This case highlights the challenge of making the correct hypercalcemic diagnosis without genetic tools. The concurrence with thyroid cancer has been reported once before, albeit not with this novel CASR mutation.

In addition,16S rRNA sequencing revealed that strontium modulated the gut microbiota composition in CRC nude mice, characterized by a significant increase in the relative abundance of Lactobacillus species (P < 0.05). This study suggests that strontium supplementation may provide a theoretical basis for the treatment of colorectal cancer and the optimization of comprehensive treatment strategies for this condition.

P3, N=67, Active, not recruiting, Calcilytix Therapeutics, Inc., a BridgeBio company | Trial completion date: Sep 2028 --> Aug 2029

Recent studies have also highlighted CaSR's interactions with nutrient-sensing pathways and its role in immune regulation, positioning it as a promising therapeutic target for hepatic metabolic disorders and liver cancer. This review explores the multifaceted roles of CaSR in liver physiology and disease, emphasizing its potential as a novel therapeutic target for addressing hepatic physiology and pathology.

This case highlights the importance of characterizing the cause of non-surgical hypoparathyroidism, including ADH1, in the differential diagnosis. ADH1 may coexist with Bartter syndrome type V, making the patient's management more challenging. To our knowledge, this is the second case in the literature with the coexistence of two rare diseases, ADH1 and CML.In CML patients treated with TKIs, serum calcium levels should be monitored and, in the case of severe hypocalcemia accompanied by low or inappropriately normal PTH, the possible existence of ADH1 may need to be investigated.

Bortezomib was used to suppress the NF-κB pathway...The whole data indicated that NPS-2143 inhibited the viability of Y-79 cells, and induced apoptosis by modulating the NF-κB signaling pathways. Therefore, NPS-2143 has potential anti-retinoblastoma effect.

P3, N=67, Active, not recruiting, Calcilytix Therapeutics, Inc., a BridgeBio company | Recruiting --> Active, not recruiting | Trial primary completion date: Apr 2025 --> Aug 2025

P=N/A, N=66, Recruiting, Centre Hospitalier Universitaire, Amiens

In summary, our study reveals that CaSR expression is decreased in GEP-NETs and that this reduced expression is likely due to DNA methylation and chromatin changes. Moreover, we demonstrate that transfection of the CaSR into a PNET cell line reduces cell viability, thereby indicating that the CaSR acts as a tumour suppressor in this tumour type.

Calcium intake was not associated with all-cause or CRC-specific mortality in CRC patients. The association between supplemental calcium intake and all-cause and CRC-specific mortality may be modified by genetic variants in the CaSR gene.