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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
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
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.
Sastre A, Valentino K, Hannan FM, Lines KE, Gluck AK, Stevenson M, Ryalls M, Gorrigan RJ, Pullen D, Buck J, Sankaranarayanan S, Allgrove J, Thakker RV, Gevers EF. Sastre A, et al. N Engl J Med. 2021 Jul 8;385(2):189-191. doi: 10.1056/NEJMc2034981. N Engl J Med. 2021. PMID: 34233101 Free PMC article. No abstract available.
Recombinant human parathyroid hormone (1-84) is effective in CASR-associated hypoparathyroidism.
Hawkes CP, Shulman DI, Levine MA. Hawkes CP, et al. Eur J Endocrinol. 2020 Dec;183(6):K13-K21. doi: 10.1530/EJE-20-0710. Eur J Endocrinol. 2020. PMID: 33112267 Free PMC article.
INTRODUCTION: Gain-of-function mutations in the CASR gene cause Autosomal Dominant Hypocalcemia Type 1 (ADH1), the most common genetic cause of isolated hypoparathyroidism. ...Calcitriol and calcium supplementation were discontinued after titration of rhPTH(1 …
INTRODUCTION: Gain-of-function mutations in the CASR gene cause Autosomal Dominant Hypocalcemia Type 1 (ADH1), the most …
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW. Joseph ADD, et al. BMC Endocr Disord. 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. BMC Endocr Disord. 2019. PMID: 31660939 Free PMC article.
BACKGROUND: Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. ...CASE PRESENTATION: A 13-year-old boy with an acute febrile illness, hypocalcaemia and bilateral carpopedal s …
BACKGROUND: Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding pr …
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
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-

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

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 …
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 …
Knockin mouse with mutant Galpha(11) 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. Roszko KL, et al. JCI Insight. 2017 Feb 9;2(3):e91079. doi: 10.1172/jci.insight.91079. JCI Insight. 2017. PMID: 28194446 Free PMC article.
Recently, we identified gain-of-function mutations in Galpha(11) in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid hormone (PTH), and hyperphosphatemia. ...
Recently, we identified gain-of-function mutations in Galpha(11) in patients with autosomal-dominant hypocalcemia type …
25 results