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Page 1
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
Loh NY, Bentley L, Dimke H, Verkaart S, Tammaro P, Gorvin CM, Stechman MJ, Ahmad BN, Hannan FM, Piret SE, Evans H, Bellantuono I, Hough TA, Fraser WD, Hoenderop JG, Ashcroft FM, Brown SD, Bindels RJ, Cox RD, Thakker RV. Loh NY, et al. Among authors: piret se. PLoS One. 2013;8(1):e55412. doi: 10.1371/journal.pone.0055412. Epub 2013 Jan 30. PLoS One. 2013. PMID: 23383183 Free PMC article.
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. Gorvin CM, et al. Among authors: piret se. JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103. JCI Insight. 2017. PMID: 28194447 Free PMC article.
Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.
Howles SA, Hannan FM, Gorvin CM, Piret SE, Paudyal A, Stewart M, Hough TA, Nesbit MA, Wells S, Brown SD, Cox RD, Thakker RV. Howles SA, et al. Among authors: piret se. JCI Insight. 2017 Oct 19;2(20):e96540. doi: 10.1172/jci.insight.96540. JCI Insight. 2017. PMID: 29046478 Free PMC article.
Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.
Gorvin CM, Loh NY, Stechman MJ, Falcone S, Hannan FM, Ahmad BN, Piret SE, Reed AA, Jeyabalan J, Leo P, Marshall M, Sethi S, Bass P, Roberts I, Sanderson J, Wells S, Hough TA, Bentley L, Christie PT, Simon MM, Mallon AM, Schulz H, Cox RD, Brown MA, Huebner N, Brown SD, Thakker RV. Gorvin CM, et al. Among authors: piret se. J Bone Miner Res. 2019 Jul;34(7):1324-1335. doi: 10.1002/jbmr.3695. Epub 2019 Mar 4. J Bone Miner Res. 2019. PMID: 30830987 Free PMC article.
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV. Bowl MR, et al. Among authors: piret se. Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27. Hum Mol Genet. 2010. PMID: 20190276
An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.
Gorvin CM, Ahmad BN, Stechman MJ, Loh NY, Hough TA, Leo P, Marshall M, Sethi S, Bentley L, Piret SE, Reed A, Jeyabalan J, Christie PT, Wells S, Simon MM, Mallon AM, Schulz H, Huebner N, Brown MA, Cox RD, Brown SD, Thakker RV. Gorvin CM, et al. Among authors: piret se. J Bone Miner Res. 2019 Mar;34(3):497-507. doi: 10.1002/jbmr.3624. Epub 2018 Dec 14. J Bone Miner Res. 2019. PMID: 30395686 Free PMC article.
30 results