Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.E228K
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CASR

NM_000388.4:p.E228K

Associated Papers

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

Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Allosteric modulation and G-protein selectivity of the Ca2+-sensing receptor.

He F et al.

Nature, 2024

Regulation of the WNK4-SPAK-NCC pathway by the calcium-sensing receptor.

Chávez-Canales M et al.

Current Opinion in Nephrology and Hypertension, 2023

Mechanism of sensitivity modulation in the calcium-sensing receptor via electrostatic tuning.

Schamber MR et al.

Nature Communications, 2022

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.

Hannan FM et al.

Jbmr Plus, 2020

Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).

Roberts MS et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.

Ovejero D et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

The Calcium-Sensing Receptor Increases Activity of the Renal NCC through the WNK4-SPAK Pathway.

Bazúa-Valenti S et al.

Journal of the American Society of Nephrology : Jasn, 2018

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Howles SA et al.

Jci Insight, 2017

29046478 (PubMed )
Supplement: jciinsight-2-96540-s001.pdf

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 2016

Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics.

Mayr B et al.

Trends in Endocrinology and Metabolism: Tem, 2016

Stridor and apnea as the initial presentation of primary hypoparathyroidism.

Chou CT et al.

International Journal of Pediatric Otorhinolaryngology, 2016

Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.

Zhang C et al.

Frontiers in Physiology, 2016

Anticonvulsant treatment associated with intractable hypocalcaemia in a female child with hypoparathyroidism.

Formosa N et al.

Hormone Research in Paediatrics, 2015

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Hannan FM et al.

Human Molecular Genetics, 2012

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Cole DE et al.

Journal of Molecular Endocrinology, 2009

Novel gain of function mutations of the calcium-sensing receptor in two patients with PTH-deficient hypocalcemia.

Nakajima K et al.

Internal Medicine (tokyo, Japan), 2009

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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."