Research & Literature

Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).

Dong B, Endo I, Ohnishi Y, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2015; (30(11)):1980-93 doi:10.1002/jbmr.2551.

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).

Hannan FM, Walls GV, Babinsky VN, et al.

Endocrinology 2015; (156(9)):3114-21 doi:10.1210/en.2015-1269.

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.

Babinsky VN, Hannan FM, Gorvin CM, et al.

The Journal of biological chemistry 2016; (291(20)):10876-85 doi:10.1074/jbc.M115.696401.

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.

Tenhola S, Voutilainen R, Reyes M, et al.

European journal of endocrinology 2016; (175(3)):211-8 doi:10.1530/EJE-16-0109.

Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.

Regala J, Cavaco B, Domingues R, et al.

Journal of pediatric genetics 2015; (4(1)):29-33 doi:10.1055/s-0035-1554979.

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

Hannan FM, Babinsky VN, Thakker RV

Journal of molecular endocrinology 2016; (57(3)):R127-42 doi:10.1530/JME-16-0124.

Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2.

Roszko KL, Bi RD, Mannstadt M

Frontiers in physiology 2016; (7()):458 doi:10.3389/fphys.2016.00458.

Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications.

Lopes MP, Kliemann BS, Bini IB, et al.

Archives of endocrinology and metabolism 2016; (60(6)):532-536 doi:10.1590/2359-3997000000221.

[Calcilytic drugs:Feature and future.]

Endo I

Clinical calcium 2017; (27(4)):547-552.

Factors influencing pre-operative urinary calcium excretion in primary hyperparathyroidism.

Kaderli RM, Riss P, Geroldinger A, et al.

Clinical endocrinology 2017; (87(1)):97-102 doi:10.1111/cen.13348.

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia.

Rasmussen AQ, Jørgensen NR, Schwarz P

Frontiers in endocrinology 2018; (9()):200 doi:10.3389/fendo.2018.00200.

The Effects of Diuretics on Mineral and Bone Metabolism.

Alon US

Pediatric endocrinology reviews : PER 2018; (15(4)):291-297 doi:10.17458/per.vol15.2018.a.DiureticsMineralBoneMetabolism.

A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

Kwan B, Champion B, Boyages S, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018()).

New Directions in Treatment of Hypoparathyroidism.

Tabacco G, Bilezikian JP

Endocrinology and metabolism clinics of North America 2018; (47(4)):901-915 doi:10.1016/j.ecl.2018.07.013.

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, et al.

Nature reviews. Endocrinology 2018; (15(1)):33-51 doi:10.1038/s41574-018-0115-0.

Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

Bhangu JS, Selberherr A, Brammen L, et al.

Head & neck 2019; (41(5)):1372-1378 doi:10.1002/hed.25568.

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

Roberts MS, Gafni RI, Brillante B, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019; (34(9)):1609-1618 doi:10.1002/jbmr.3747.

Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.

Gorvin CM, Stokes VJ, Boon H, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(3)) doi:10.1210/clinem/dgz251.

Hypocalcemia After Thyroidectomy and Parathyroidectomy in a Pregnant Woman.

Lebrun B, De Block C, Jacquemyn Y

Endocrinology 2020; (161(7)) doi:10.1210/endocr/bqaa067.

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.

Dershem R, Gorvin CM, Metpally RPR, et al.

American journal of human genetics 2020; (106(6)):734-747 doi:10.1016/j.ajhg.2020.04.006.

Familial hypocalciuric hypercalcemia in an index male: grey zones of the differential diagnosis from primary hyperparathyroidism in a 13-year clinical follow up.

Zajíčková K, Dvořáková M, Moravcová J, et al.

Physiological research 2020; (69(Suppl 2)):S321-S328 doi:10.33549/physiolres.934522.

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

Hannan FM, Gorvin CM, Babinsky VN, et al.

JBMR plus 2020; (4(10)):e10402 doi:10.1002/jbm4.10402.

Recombinant human parathyroid hormone (1-84) is effective in CASR-associated hypoparathyroidism.

Hawkes CP, Shulman DI, Levine MA

European journal of endocrinology 2020; (183(6)):K13-K21.

Rare diseases caused by abnormal calcium sensing and signalling.

Tőke J, Czirják G, Enyedi P, Tóth M

Endocrine 2021; (71(3)):611-617 doi:10.1007/s12020-021-02620-5.

The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Tan RSG, Lee CHL, Dimke H, Todd Alexander R

Experimental biology and medicine (Maywood, N.J.) 2021; (246(22)):2407-2419 doi:10.1177/15353702211010415.

Recurrent hypocalcemic tetany presenting to the emergency room: Answers.

Kakkar V, Pandit K, Yadav M, Saha A

Pediatric nephrology (Berlin, Germany) 2022; (37(3)):581-584 doi:10.1007/s00467-021-05283-6.

A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy.

Festas Silva D, De Sousa Lages A, Caetano JS, et al.

Endocrinology, diabetes & metabolism case reports 2021; (2021()).

Differential parathyroid and kidney Ca2+-sensing receptor activation in autosomal dominant hypocalcemia 1.

van Megen WH, Tan RSG, Alexander RT, Dimke H

EBioMedicine 2022; (78()):103947 doi:10.1016/j.ebiom.2022.103947.

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Elston MS, Elajnaf T, Hannan FM, Thakker RV

Journal of the Endocrine Society 2022; (6(5)):bvac042 doi:10.1210/jendso/bvac042.

The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.

Kwon EJ, Kim MS, Noh ES, et al.

Annals of clinical and laboratory science 2022; (52(3)):494-498.

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.

Wu Y, Zhang C, Huang X, et al.

The Journal of international medical research 2022; (50(7)):3000605221110489 doi:10.1177/03000605221110489.

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.

Roszko KL, Stapleton Smith LM, Sridhar AV, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022; (37(10)):1926-1935 doi:10.1002/jbmr.4659.

Initial Assessment and Monitoring of Patients with Chronic Hypoparathyroidism: A Systematic Current Practice Survey.

Van Uum S, Shrayyef M, M'Hiri I, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022; (37(12)):2630-2641 doi:10.1002/jbmr.4698.

Association of Calcium and Phosphate Levels with Incident Chronic Kidney Disease in Patients with Hypoparathyroidism: A Retrospective Case-Control Study.

Gosmanova EO, Ayodele O, Chen K, et al.

International journal of endocrinology 2022; (2022()):6078881 doi:10.1155/2022/6078881.

Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.

Zung A, Barash G, Banne E, Levine MA

Hormone research in paediatrics 2023; (96(5)):473-482 doi:10.1159/000529833.

Activating calcium-sensing receptor gene variants in China: a case report of hypocalcaemia and literature review.

Guo S, Li X, Shan X

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(5)):500-504 doi:10.1515/jpem-2022-0623.

Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures.

Teleanu RI, Sarman MA, Epure DA, et al.

Children (Basel, Switzerland) 2023; (10(6)) doi:10.3390/children10061011.

A pediatric case of autosomal dominant hypocalcemia type 2.

Takahashi S, Fuchigami T, Suzuki J, Morioka I

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(10)):974-977 doi:10.1515/jpem-2023-0097.

Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.

Ali DS, Marini F, Alsarraf F, et al.

Frontiers in endocrinology 2023; (14()):1215036 doi:10.3389/fendo.2023.1215036.

[Are thiazide diuretics ineffective with a glomerular filtration rate lower than 50 ml/min?]

Hausberg M

Innere Medizin (Heidelberg, Germany) 2024; (65(2)):180-184 doi:10.1007/s00108-023-01617-8.

In vivo treatment with calcilytic of CaSR knock-in mice ameliorates renal phenotype reversing downregulation of the vasopressin-AQP2 pathway.

Ranieri M, Angelini I, D'Agostino M, et al.

The Journal of physiology 2024; (602(13)):3207-3224 doi:10.1113/JP284233.

Treatment of Hypoparathyroidism by Re-Establishing the Effects of Parathyroid Hormone.

Rejnmark L

Endocrinology and metabolism (Seoul, Korea) 2024; (39(2)):262-266 doi:10.3803/EnM.2024.1916.

New insights into renal calcium-sensing receptor activation.

Dimke H

Current opinion in nephrology and hypertension 2024; (33(4)):433-440 doi:10.1097/MNH.0000000000000998.

Monitoring Calcium-Sensing Receptor (CaSR)-Induced Intracellular Calcium Flux Using an Indo-1 Flow Cytometry Assay.

Gorvin CM, Howles SA

Methods in molecular biology (Clifton, N.J.) 2025; (2861()):43-55 doi:10.1007/978-1-0716-4164-4_4.

Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.

De Coster T, David K, Breckpot J, Decallonne B

Journal of endocrinological investigation 2025; (48(4)):831-844 doi:10.1007/s40618-024-02496-y.

An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.

Benson MR, Wyatt RA, Levine MA, Gorvin CM

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2025; (40(2)):270-282 doi:10.1093/jbmr/zjae199.

Thiazide diuretics for preventing calcium oxalate recurrent kidney stones: an updated systematic review, meta-analysis and trial sequential analysis of randomized controlled trials.

Porto BC, Terada BD, Gonçalves FG, et al.

Minerva urology and nephrology 2025; (77(3)):298-307 doi:10.23736/S2724-6051.25.05903-8.

Best practice recommendations for the diagnosis and management of hypoparathyroidism.

Khan AA, Ali DS, Bilezikian JP, et al.

Metabolism: clinical and experimental 2025; (171()):156335 doi:10.1016/j.metabol.2025.156335.

Acute Sheehan Syndrome With Distinctive Arginine Vasopressin Secretion and Magnetic Resonance Imaging Findings.

Minamoto Y, Sasai Y, Yamashita Y, et al.

JCEM case reports 2025; (3(8)):luaf134 doi:10.1210/jcemcr/luaf134.

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

Chang JB, Barnhill CP, Apostolov AM, et al.

American journal of human genetics 2025; (112(8)):1818-1832 doi:10.1016/j.ajhg.2025.06.013.

Chronic Hypoparathyroidism-Current and Emerging Therapies.

Khan S, Khan AA

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2025; (31(11)):1478-1487 doi:10.1016/j.eprac.2025.07.011.

Pituitary disorders in pregnancy.

Donald DM, Tomkins M, O'Reilly MW, Sherlock M

Clinical medicine (London, England) 2025; (25(5)):100488 doi:10.1016/j.clinme.2025.100488.

An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.

Chondrogianni ME, Diamantopoulos P, Papadopoulou A, et al.

Hormones (Athens, Greece) 2026; (25(1)):283-288 doi:10.1007/s42000-025-00706-7.

Autosomal dominant hypocalcemia type 1: Status quo of tailored management and future perspectives.

Harada D, Namba N

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2026; doi:10.1093/jbmr/zjag034.