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Autosomal dominant hypocalcemia

Known as: Familial Hypercalciuric Hypocalcemia, HYPOCALCEMIA, FAMILIAL 
A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hypersensitivity, and compensatory hypocalcemia and… 
National Institutes of Health

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Hereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1
OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in… 
2015
2015
Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia
Abstract Autosomal dominant hypocalcemia, caused by activating mutations of the calcium-sensing receptor (CASR) gene, is… 
2013
2013
Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
OBJECTIVE Gain-of-function mutations of the calcium-sensing receptor (CASR) gene have been identified in patients with sporadic… 
2010
2010
Assessing constitutive activity of extracellular calcium-sensing receptors in vitro and in bone.
2006
2006
Le récepteur sensible au calcium : physiologie et pathologie
2005
2005
A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia resulting from gain‐of‐function mutations of the calcium sensing receptor (CASR) is a rare… 
2005
2005
Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
Calcium-sensing receptor gene (CASR) mutations that alter the function of the G protein coupled Ca (2+)-sensing receptor are… 
1999
1999
Calcium-induced activation of a mutant G-protein-coupled receptor causes in vitro transformation of NIH/3T3 cells.
The calcium-sensing receptor (CaR) is a G-protein-coupled receptor that is widely expressed, has tissue-specific functions, and… 
1996
1996
Ca2+-Receptor-Mediated Regulation of Parathyroid and Renal Function
Review
1996
Review
1996
Three inherited disorders of calcium sensing.
Three distinct disorders of calcium homeostasis can result from mutations in the gene encoding the human calcium-sensing… 
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