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Year Number of Results
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29 results

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Page 1
Discovery of Orally Bioavailable Selective Inhibitors of the Sodium-Phosphate Cotransporter NaPi2a (SLC34A1).
Filipski KJ, Sammons MF, Bhattacharya SK, Panteleev J, Brown JA, Loria PM, Boehm M, Smith AC, Shavnya A, Conn EL, Song K, Weng Y, Facemire C, Jüppner H, Clerin V. Filipski KJ, et al. ACS Med Chem Lett. 2018 Apr 12;9(5):440-445. doi: 10.1021/acsmedchemlett.8b00013. eCollection 2018 May 10. ACS Med Chem Lett. 2018. PMID: 29795756 Free PMC article.
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.
Hanna P, Khatri A, Choi S, Brabant S, Gild ML, Piketty ML, Francou B, Prié D, Potts JT Jr, Clifton-Bligh RJ, Linglart A, Gardella TJ, Jüppner H. Hanna P, et al. Proc Natl Acad Sci U S A. 2023 Feb 21;120(8):e2208047120. doi: 10.1073/pnas.2208047120. Epub 2023 Feb 16. Proc Natl Acad Sci U S A. 2023. PMID: 36795755 Free PMC article.
Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research.
Bilezikian JP, Khan A, Potts JT Jr, Brandi ML, Clarke BL, Shoback D, Jüppner H, D'Amour P, Fox J, Rejnmark L, Mosekilde L, Rubin MR, Dempster D, Gafni R, Collins MT, Sliney J, Sanders J. Bilezikian JP, et al. J Bone Miner Res. 2011 Oct;26(10):2317-37. doi: 10.1002/jbmr.483. J Bone Miner Res. 2011. PMID: 21812031 Free PMC article.
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F. Vivante A, et al. Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235987 Free PMC article.
29 results