Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
40664210 (PubMed )
Supplement: mmc2.xlsx › Table_S7_UKB_variants
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM
Journal of Molecular Endocrinology, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach.
Hon LS et al.
Human Mutation, 2009
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
Király O et al.
Human Mutation, 2007
Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.
Yun FH et al.
Clinical Biochemistry, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
Pidasheva S et al.
Human Molecular Genetics, 2005
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