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Items: 1 to 20 of 33

1.

Causes and pathophysiology of hypoparathyroidism.

Cianferotti L, Marcucci G, Brandi ML.

Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):909-925. doi: 10.1016/j.beem.2018.07.001. Epub 2018 Jul 29. Review.

PMID:
30665552
2.

Long-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.

Winer KK, Kelly A, Johns A, Zhang B, Dowdy K, Kim L, Reynolds JC, Albert PS, Cutler GB Jr.

J Pediatr. 2018 Dec;203:391-399.e1. doi: 10.1016/j.jpeds.2018.08.010.

PMID:
30470382
3.

New Directions in Treatment of Hypoparathyroidism.

Tabacco G, Bilezikian JP.

Endocrinol Metab Clin North Am. 2018 Dec;47(4):901-915. doi: 10.1016/j.ecl.2018.07.013. Review.

PMID:
30390821
4.

Medical Hypoparathyroidism.

Siraj N, Hakami Y, Khan A.

Endocrinol Metab Clin North Am. 2018 Dec;47(4):797-808. doi: 10.1016/j.ecl.2018.07.006. Epub 2018 Oct 11. Review.

PMID:
30390814
5.

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.

Matsunoshita N, Nozu K, Yoshikane M, Kawaguchi A, Fujita N, Morisada N, Ishimori S, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Ninchoji T, Morioka I, Nagase H, Taniguchi-Ikeda M, Kaito H, Iijima K.

J Hum Genet. 2018 Jul;63(8):887-892. doi: 10.1038/s10038-018-0470-7. Epub 2018 May 30.

PMID:
29849040
6.

Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism.

Cavaco BM, Canaff L, Nolin-Lapalme A, Vieira M, Silva TN, Saramago A, Domingues R, Rutter MM, Hudon J, Gleason JL, Leite V, Hendy GN.

J Clin Endocrinol Metab. 2018 Aug 1;103(8):2879-2888. doi: 10.1210/jc.2017-02407.

PMID:
29846619
7.

Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1.

Papadopoulou A, Gole E, Melachroinou K, Trangas T, Bountouvi E, Papadimitriou A.

Hormones (Athens). 2017 Apr;16(2):200-204. doi: 10.14310/horm.2002.1734.

8.

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Gorvin CM, Hannan FM, Howles SA, Babinsky VN, Piret SE, Rogers A, Freidin AJ, Stewart M, Paudyal A, Hough TA, Nesbit MA, Wells S, Vincent TL, Brown SD, Cox RD, Thakker RV.

JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103.

9.

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.

Roszko KL, Bi R, Gorvin CM, Bräuner-Osborne H, Xiong XF, Inoue A, Thakker RV, Strømgaard K, Gardella T, Mannstadt M.

JCI Insight. 2017 Feb 9;2(3):e91079. doi: 10.1172/jci.insight.91079.

10.

Diseases associated with calcium-sensing receptor.

Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC.

Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Review.

11.

Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.

Maruca K, Brambilla I, Mingione A, Bassi L, Capelli S, Brasacchio C, Soldati L, Cisternino M, Mora S.

Mol Cell Endocrinol. 2017 Jan 5;439:187-193. doi: 10.1016/j.mce.2016.08.032. Epub 2016 Aug 22.

PMID:
27561204
12.

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

Mayr B, Glaudo M, Schöfl C.

Trends Endocrinol Metab. 2016 Sep;27(9):643-652. doi: 10.1016/j.tem.2016.05.005. Epub 2016 Jun 20. Review.

PMID:
27339034
13.

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

Tenhola S, Voutilainen R, Reyes M, Toiviainen-Salo S, Jüppner H, Mäkitie O.

Eur J Endocrinol. 2016 Sep;175(3):211-8. doi: 10.1530/EJE-16-0109. Epub 2016 Jun 22.

14.

Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway.

Astor MC, Løvås K, Debowska A, Eriksen EF, Evang JA, Fossum C, Fougner KJ, Holte SE, Lima K, Moe RB, Myhre AG, Kemp EH, Nedrebø BG, Svartberg J, Husebye ES.

J Clin Endocrinol Metab. 2016 Aug;101(8):3045-53. doi: 10.1210/jc.2016-1477. Epub 2016 May 17.

15.

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, Howles SA, Nesbit MA, Rust N, Hanyaloglu AC, Hu J, Spiegel AM, Thakker RV.

J Biol Chem. 2016 May 13;291(20):10876-85. doi: 10.1074/jbc.M115.696401. Epub 2016 Mar 18.

16.

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).

Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1207-14. doi: 10.1002/jbmr.2797.

17.

Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.

Obermannova B, Sumnik Z, Dusatkova P, Cinek O, Grant M, Lebl J, Hendy GN.

Eur J Endocrinol. 2016 Apr;174(4):K1-K11. doi: 10.1530/EJE-15-1216. Epub 2016 Jan 13.

PMID:
26764418
18.

GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.

Mayr B, Schnabel D, Dörr HG, Schöfl C.

Eur J Endocrinol. 2016 May;174(5):R189-208. doi: 10.1530/EJE-15-1028. Epub 2015 Dec 8. Review.

PMID:
26646938
19.

Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1.

Kamiyoshi N, Nozu K, Urahama Y, Matsunoshita N, Yamamura T, Minamikawa S, Ninchoji T, Morisada N, Nakanishi K, Kaito H, Iijima K.

Clin Exp Nephrol. 2016 Apr;20(2):253-7. doi: 10.1007/s10157-015-1160-9. Epub 2015 Sep 1.

PMID:
26323216
20.

14-3-3 Proteins Buffer Intracellular Calcium Sensing Receptors to Constrain Signaling.

Grant MP, Cavanaugh A, Breitwieser GE.

PLoS One. 2015 Aug 28;10(8):e0136702. doi: 10.1371/journal.pone.0136702. eCollection 2015.

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