Pages that link to "Q24648139"
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The following pages link to Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations (Q24648139):
Displaying 50 items.
- The cargo receptor p24A facilitates calcium sensing receptor maturation and stabilization in the early secretory pathway (Q24305461) (← links)
- GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts (Q26773446) (← links)
- Calcium-sensing receptor 20 years later (Q26862683) (← links)
- Calcium regulation and bone mineral metabolism in elderly patients with chronic kidney disease (Q26863412) (← links)
- The Calcium-Sensing Receptor and the Parathyroid: Past, Present, Future (Q28074753) (← links)
- CASR gene activating mutations in two families with autosomal dominant hypocalcemia (Q29465805) (← links)
- A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia (Q29465806) (← links)
- Subclinical and asymptomatic parathyroid disease: implications of emerging data (Q30776024) (← links)
- Parathyroid hormone: anabolic and catabolic actions on the skeleton (Q33609126) (← links)
- Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor (Q33636249) (← links)
- A case report of defective endogenous vitamin D: a new clinical entity (Q34230345) (← links)
- Hypocalcemia: updates in diagnosis and management for primary care. (Q34262950) (← links)
- Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia (Q34453896) (← links)
- New concepts in calcium-sensing receptor pharmacology and signalling (Q35657894) (← links)
- Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia (Q35745287) (← links)
- Assessing constitutive activity of extracellular calcium-sensing receptors in vitro and in bone (Q36482207) (← links)
- Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. (Q36911479) (← links)
- Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study (Q37220483) (← links)
- Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants (Q37244874) (← links)
- Excessive signal transduction of gain-of-function variants of the calcium-sensing receptor (CaSR) are associated with increased ER to cytosol calcium gradient (Q37309059) (← links)
- Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. (Q37428995) (← links)
- Molecular genetics of parathyroid disease. (Q37448279) (← links)
- Parathyroid hormone 1-34 and skeletal anabolic action: The use of parathyroid hormone in bone formation (Q37580945) (← links)
- Hereditary tubular transport disorders: implications for renal handling of Ca2+ and Mg2+. (Q37603366) (← links)
- G protein-coupled receptors: mutations and endocrine diseases (Q37837505) (← links)
- Strontium ranelate: in search for the mechanism of action. (Q38127352) (← links)
- Hypercalcemia in the Intensive Care Unit: A Review of Pathophysiology, Diagnosis, and Modern Therapy (Q38153026) (← links)
- Inherited disorders of calcium and phosphate metabolism (Q38189644) (← links)
- Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review (Q38231338) (← links)
- The calcium-sensing receptor in bone metabolism: from bench to bedside and back (Q38534776) (← links)
- Hereditary hyperparathyroidism--a consensus report of the European Society of Endocrine Surgeons (ESES). (Q38602740) (← links)
- Association of calcium sensing receptor polymorphisms at rs1801725 with circulating calcium in breast cancer patients (Q38648494) (← links)
- Rare diseases in clinical endocrinology: a taxonomic classification system. (Q39102141) (← links)
- A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. (Q41722872) (← links)
- Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism (Q41780357) (← links)
- An interesting case of primary hypoparathyroidism (Q41832512) (← links)
- Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia. (Q42143614) (← links)
- Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly). (Q42498894) (← links)
- Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey (Q44723293) (← links)
- (Q45825485) (← links)
- Neonatal severe hyperparathyroidism secondary to a novel homozygous CASR gene mutation. (Q47651756) (← links)
- Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation. (Q51123018) (← links)
- Orphan Adhesion GPCR GPR64/ADGRG2 Is Overexpressed in Parathyroid Tumors and Attenuates Calcium-Sensing Receptor-Mediated Signaling. (Q51374986) (← links)
- Neonatal severe hyperparathyroidism: further clinical and molecular delineation. (Q51536007) (← links)
- N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice. (Q52373139) (← links)
- Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914. (Q53359387) (← links)
- Association between calcium-sensing receptor gene polymorphisms and recurrent calcium kidney stone disease: a comprehensive gene analysis. (Q54421241) (← links)
- TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism. (Q55104534) (← links)
- Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation (Q58093397) (← links)
- Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: A case report and literature review (Q58567355) (← links)