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Quoted phrase not found in phrase index: "Autosomal dominant hypocalcemia 2"
Page 1
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV. Hannan FM, et al. Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. Nat Rev Endocrinol. 2018. PMID: 30443043 Free PMC article. Review.
The Ca(2+)-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as the parathyroid glands and the kidneys and signals via G proteins and beta-arrestin. The CaSR has a pivotal role in bone and mineral metabol …
The Ca(2+)-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as …
Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.
Roszko KL, Stapleton Smith LM, Sridhar AV, Roberts MS, Hartley IR, Gafni RI, Collins MT, Fox JC, Nemeth EF. Roszko KL, et al. J Bone Miner Res. 2022 Oct;37(10):1926-1935. doi: 10.1002/jbmr.4659. Epub 2022 Aug 22. J Bone Miner Res. 2022. PMID: 35879818 Free PMC article.
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of the calcium-sensing receptor gene (CASR). ...Seizures, the most frequent clinical presentation, occurred in 39% of patients. In patients wi …
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of the ca …
Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).
Roberts MS, Gafni RI, Brillante B, Guthrie LC, Streit J, Gash D, Gelb J, Krusinska E, Brennan SC, Schepelmann M, Riccardi D, Bin Khayat ME, Ward DT, Nemeth EF, Rosskamp R, Collins MT. Roberts MS, et al. J Bone Miner Res. 2019 Sep;34(9):1609-1618. doi: 10.1002/jbmr.3747. Epub 2019 Jul 26. J Bone Miner Res. 2019. PMID: 31063613 Free PMC article.
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, gain-of-function mutations of the calcium-sensing receptor gene (CAR). ...Parallel in vitro testing with subject CaR mutations assessed the effects of N …
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, gain-of-func …
Treatment of Hypoparathyroidism by Re-Establishing the Effects of Parathyroid Hormone.
Rejnmark L. Rejnmark L. Endocrinol Metab (Seoul). 2024 Apr;39(2):262-266. doi: 10.3803/EnM.2024.1916. Epub 2024 Apr 4. Endocrinol Metab (Seoul). 2024. PMID: 38572533 Free PMC article. Review.
Another long-acting PTH analog with effects on the parathyroid hormone receptor (eneboparatide) is currently being tested in a phase 3 trial. Furthermore, the treatment of autosomal dominant hypocalcemia type 1 with a calcilytic (encaleret) is also bei …
Another long-acting PTH analog with effects on the parathyroid hormone receptor (eneboparatide) is currently being tested in a phase 3 tr …
Rickets associated with ichthyosis.
Kumar V, Kalra S, Mutreja D, Arya A. Kumar V, et al. Paediatr Int Child Health. 2012 May;32(2):119-20. doi: 10.1179/2046905511Y.0000000013. Paediatr Int Child Health. 2012. PMID: 22595223
Nutritional rickets in disorders of keratinisation is very rare. A 12-year-old girl with autosomal dominant ichthyosis vulgaris is reported who presented with tetany and a waddling gait. ...This appears to be the first report of rickets associated with autosomal …
Nutritional rickets in disorders of keratinisation is very rare. A 12-year-old girl with autosomal dominant ichthyosis vulgari …
Galpha(11) 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. Gorvin CM, et al. JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103. JCI Insight. 2017. PMID: 28194447 Free PMC article.
Heterozygous germline gain-of-function mutations of G-protein subunit alpha(11) (Galpha(11)), a signaling partner for the calcium-sensing receptor (CaSR), result in autosomal dominant hypocalcemia type 2 (ADH2). ADH2 may cause symptomatic hypocalcem …
Heterozygous germline gain-of-function mutations of G-protein subunit alpha(11) (Galpha(11)), a signaling partner for the calcium-sensing re …
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. Winer KK, et al. J Pediatr. 2018 Dec;203:391-399.e1. doi: 10.1016/j.jpeds.2018.08.010. J Pediatr. 2018. PMID: 30470382 Free PMC article.

In the first 2 years, distal one-third radius bone accrual velocity was reduced compared with normal children (P < .003). Serum alkaline phosphatase correlated with PTH 1-34 dose (P < .006) and remained normal (235.3 104.8 [SD] U/L, N: 51-332 U/L). Mean serum and 24-

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In the first 2 years, distal one-third radius bone accrual velocity was reduced compared with normal children (P < .003). Serum al

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Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
Dong B, Endo I, Ohnishi Y, Kondo T, Hasegawa T, Amizuka N, Kiyonari H, Shioi G, Abe M, Fukumoto S, Matsumoto T. Dong B, et al. J Bone Miner Res. 2015 Nov;30(11):1980-93. doi: 10.1002/jbmr.2551. Epub 2015 Jul 16. J Bone Miner Res. 2015. PMID: 25967373 Free article.
Activating mutations of calcium-sensing receptor (CaSR) cause autosomal dominant hypocalcemia (ADH). ADH patients develop hypocalcemia, hyperphosphatemia, and hypercalciuria, similar to the clinical features of hypoparathyroidism. ...JTT-305/MK- …
Activating mutations of calcium-sensing receptor (CaSR) cause autosomal dominant hypocalcemia (ADH). ADH patients devel …
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, Nesbit MA, Kallay E, Hough TA, Fraser WD, Cox RD, Hu J, Spiegel AM, Thakker RV. Hannan FM, et al. Endocrinology. 2015 Sep;156(9):3114-21. doi: 10.1210/en.2015-1269. Epub 2015 Jun 8. Endocrinology. 2015. PMID: 26052899 Free PMC article.
Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum PTH concentrations and hypercalciuria. ...These st …
Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing r …
Decreased calcitriol requirement during pregnancy and lactation with a window of increased requirement immediately post partum.
Sweeney LL, Malabanan AO, Rosen H. Sweeney LL, et al. Endocr Pract. 2010 May-Jun;16(3):459-62. doi: 10.4158/EP09337.CR. Endocr Pract. 2010. PMID: 20061285 Review.
OBJECTIVE: To describe the changes in calcium and calcitriol requirements during pregnancy and lactation in a patient with hypoparathyroidism due to autosomal dominant hypocalcemia. METHODS: We summarize the clinical presentation and treatment of the p …
OBJECTIVE: To describe the changes in calcium and calcitriol requirements during pregnancy and lactation in a patient with hypoparathyroidis …
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