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Page 1
OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ. Shrimpton AE, et al. Among authors: reed aa. Nephron Physiol. 2009;112(2):p27-36. doi: 10.1159/000213506. Epub 2009 Apr 18. Nephron Physiol. 2009. PMID: 19390221
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
Wu F, Reed AA, Williams SE, Loh NY, Lippiat JD, Christie PT, Large O, Bettinelli A, Dillon MJ, Goldraich NP, Hoppe B, Lhotta K, Loirat C, Malik R, Morel D, Kotanko P, Roussel B, Rubinger D, Schrander-Stumpel C, Serdaroglu E, Nesbit MA, Ashcroft F, Thakker RV. Wu F, et al. Among authors: reed aa. Nephron Physiol. 2009;112(4):p53-62. doi: 10.1159/000225944. Epub 2009 Jun 20. Nephron Physiol. 2009. PMID: 19546591
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: reed aa. 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.
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV. Williams SE, et al. Among authors: reed aa. Hum Mol Genet. 2009 Aug 15;18(16):2963-74. doi: 10.1093/hmg/ddp235. Epub 2009 May 22. Hum Mol Genet. 2009. PMID: 19465746 Free PMC article.
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.
Reed AA, Loh NY, Terryn S, Lippiat JD, Partridge C, Galvanovskis J, Williams SE, Jouret F, Wu FT, Courtoy PJ, Nesbit MA, Rorsman P, Devuyst O, Ashcroft FM, Thakker RV. Reed AA, et al. Am J Physiol Renal Physiol. 2010 Feb;298(2):F365-80. doi: 10.1152/ajprenal.00038.2009. Epub 2009 Nov 25. Am J Physiol Renal Physiol. 2010. PMID: 19940036 Free PMC article.
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. 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.
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV. Kennedy AM, et al. Among authors: reed aa. J Clin Invest. 2005 Oct;115(10):2832-42. doi: 10.1172/JCI22900. J Clin Invest. 2005. PMID: 16167086 Free PMC article.
MEN1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas.
Walls GV, Lemos MC, Javid M, Bazan-Peregrino M, Jeyabalan J, Reed AA, Harding B, Tyler DJ, Stuckey DJ, Piret S, Christie PT, Ansorge O, Clarke K, Seymour L, Thakker RV. Walls GV, et al. Among authors: reed aa. Cancer Res. 2012 Oct 1;72(19):5060-8. doi: 10.1158/0008-5472.CAN-12-1821. Epub 2012 Aug 21. Cancer Res. 2012. PMID: 22915754 Free PMC article.
37 results