Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R990G
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CASR

NM_000388.4:p.R990G

Associated Papers

Exploratory analysis of CaSR gene polymorphisms and haplotypes in relation to urolithiasis in the Qiongnan population of Hainan, China: a small-sample case-control study.

Wang J et al.

Bmc Urology, 2026

Modulated calcium-sensing receptor (CaSR) expression in human breast cancer provided insights into tumor progression and therapeutic potential.

Mansour O et al.

Journal of the Egyptian National Cancer Institute, 2026

Association between calcium-Sensing receptor gene polymorphisms and urinary calcium stone formation in the Han Chinese population from a High-Altitude region (Kunming) in China.

Hou J et al.

Urolithiasis, 2026

Neonatal hypocalcemia caused by maternal hypercalcemia: clinical characteristics, etiology, treatment, and outcome.

Ding JJ et al.

Pediatric Research, 2025

CaSR Gene Polymorphisms and PHPT Phenotypes: What Else Can We Learn? A Single-Center Experience on a Cohort of Italian Patients.

Cannito M et al.

Genes, 2025

Idiopathic Infantile Hypercalcaemia-Genetic, Biochemical and Clinical Outcomes in a Small Cohort.

Amato LA et al.

Clinical Endocrinology, 2025

A new publicly available database of human calcium-sensing receptor variants that disrupt calcium homeostasis.

Conigrave AD et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Association of Single Nucleotide Polymorphisms of Calcium-Sensing Receptors With the Occurrence and Recurrence of Nephrolithiasis in the Indian Population.

Ns M et al.

Cureus, 2025

CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.

Charoenngam N et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Detailed functional characterization of four nanobodies as positive allosteric modulators of the human calcium-sensing receptor.

Du W et al.

Biochemical Pharmacology, 2025

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.

Prasad H et al.

Human Molecular Genetics, 2024

Familial states of primary hyperparathyroidism: an update.

Cetani F et al.

Journal of Endocrinological Investigation, 2024

Exploring Adaptive Phenotypes for the Human Calcium-Sensing Receptor Polymorphism R990G.

Sinigaglia B et al.

Molecular Biology and Evolution, 2024

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.

Khan E et al.

Global Medical Genetics, 2023

A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis.

Yu B et al.

Pediatric Investigation, 2023

Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia.

Hang SMT et al.

Current Opinion in Lipidology, 2023

The Role of Gut Microbiota and Genetic Susceptibility in the Pathogenesis of Pancreatitis.

Xu F et al.

Gut and Liver, 2022

AQP2 trafficking in health and diseases: an updated overview.

Centrone M et al.

The International Journal of Biochemistry & Cell Biology, 2022

Calcium Sensing Receptor Variants Increase Pulmonary Hypertension Susceptibility.

Liu B et al.

Hypertension (dallas, Tex. : 1979), 2022

Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.

Wu J et al.

Frontiers in Genetics, 2022

35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1

Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis.

Mohammadi A et al.

Frontiers in Genetics, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

A novel frameshift mutation in TRPV6 is associated with hereditary pancreatitis.

Shah IA et al.

Frontiers in Genetics, 2022

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.

Ullah I et al.

Bmc Medical Genomics, 2021

The three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitis.

Ewers M et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2021

Common calcium-sensing receptor (CASR) gene variants do not modify risk for chronic pancreatitis in a Hungarian cohort.

Takáts A et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2021

The impact of CASR A990G polymorphism in response to cinacalcet treatment in hemodialysis patients with secondary hyperparathyroidism.

Ngamkam J et al.

Scientific Reports, 2021

Polymorphisms Contributing to Calcium Status: A Systematic Review.

da Silva Lopes K et al.

Nutrients, 2021

Therapeutic Opportunities of Targeting Allosteric Binding Sites on the Calcium-Sensing Receptor.

Diao J et al.

Acs Pharmacology & Translational Science, 2021

Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study.

Shyamasunder AH et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2021

Rare diseases caused by abnormal calcium sensing and signalling.

Tőke J et al.

Endocrine, 2021

Calcium-sensing receptor signaling - How human disease informs biology.

Gorvin CM

Current Opinion in Endocrine and Metabolic Research, 2021

Calcium-Sensing Receptor Gene Polymorphisms and Idiopathic Hypercalciuria in Children.

Siomou E et al.

Indian Journal of Pediatrics, 2021

Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis.

Atmoko W et al.

Plos One, 2021

Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population.

Litvinova MM et al.

Frontiers in Genetics, 2021

Radiofrequency Ablation of Parathyroid Glands to Treat a Patient With Hypercalcemia Caused by a Novel Inactivating Mutation in CaSR.

Hao Y et al.

Frontiers in Endocrinology, 2021

In Vivo Reporter Assays Uncover Changes in Enhancer Activity Caused by Type 2 Diabetes-Associated Single Nucleotide Polymorphisms.

Eufrásio A et al.

Diabetes, 2020

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

Genetics of kidney stone disease.

Howles SA et al.

Nature Reviews. Urology, 2020

Disordered Gut Microbiota in Children Who Have Chronic Pancreatitis and Different Functional Gene Mutations.

Wang W et al.

Clinical and Translational Gastroenterology, 2020

Sensing Extracellular Calcium - An Insight into the Structure and Function of the Calcium-Sensing Receptor (CaSR).

Chavez-Abiega S et al.

Advances in Experimental Medicine and Biology, 2020

Calcium-Sensing Receptor Gene Polymorphisms (CASRV1 and CASRV2) and the Physical Activity Level of Men in Lower Silesia, Poland.

Zagrodna A et al.

Frontiers in Genetics, 2020

Genome-wide Association Study of 24-Hour Urinary Excretion of Calcium, Magnesium, and Uric Acid.

Ware EB et al.

Mayo Clinic Proceedings. Innovations, Quality & Outcomes, 2019

Calcium-sensing receptor gene (CASR) polymorphisms and CASR transcript level concerning dyslipidemia in hemodialysis patients: a cross-sectional study.

Grzegorzewska AE et al.

Bmc Nephrology, 2019

The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.

Chen WC et al.

Scientific Reports, 2019

Renal Ca2+ and Water Handling in Response to Calcium Sensing Receptor Signaling: Physiopathological Aspects and Role of CaSR-Regulated microRNAs.

Ranieri M

International Journal of Molecular Sciences, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."