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IDENTIFYING GENETIC ASSOCIATIONS WITH VARIABILITY IN METABOLIC HEALTH AND BLOOD COUNT LABORATORY VALUES: DIVING INTO THE QUANTITATIVE TRAITS BY LEVERAGING LONGITUDINAL DATA FROM AN EHR.
Verma SS, Lucas AM, Lavage DR, Leader JB, Metpally R, Krishnamurthy S, Dewey F, Borecki I, Lopez A, Overton J, Penn J, Reid J, Pendergrass SA, Breitwieser G, Ritchie MD. Verma SS, et al. Among authors: breitwieser g. Pac Symp Biocomput. 2017;22:533-544. doi: 10.1142/9789813207813_0049. Pac Symp Biocomput. 2017. PMID: 27897004 Free article.
Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein-coupled receptors.
Dershem R, Metpally RPR, Jeffreys K, Krishnamurthy S, Smelser DT, Hershfinkel M; Regeneron Genetics Center; Carey DJ, Robishaw JD, Breitwieser GE. Dershem R, et al. Among authors: breitwieser ge. J Biol Chem. 2019 Nov 29;294(48):18109-18121. doi: 10.1074/jbc.RA119.009253. Epub 2019 Oct 18. J Biol Chem. 2019. PMID: 31628190 Free PMC article.
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center. Dershem R, et al. Among authors: breitwieser ge. Am J Hum Genet. 2020 Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386559 Free PMC article.
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
Gorvin CM, Metpally R, Stokes VJ, Hannan FM, Krishnamurthy SB, Overton JD, Reid JG, Breitwieser GE, Thakker RV. Gorvin CM, et al. Among authors: breitwieser ge. Hum Mol Genet. 2018 Mar 1;27(5):901-911. doi: 10.1093/hmg/ddy010. Hum Mol Genet. 2018. PMID: 29325022 Free PMC article.
Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis.
Huang Y, Breitwieser GE. Huang Y, et al. J Biol Chem. 2007 Mar 30;282(13):9517-9525. doi: 10.1074/jbc.M609045200. Epub 2007 Feb 6. J Biol Chem. 2007. PMID: 17284438 Free article.
The calcium-sensing receptor (CaR), a member of G protein-coupled receptor family C, regulates systemic calcium homeostasis by activating G(q)- and G(i)-linked signaling in the parathyroid, kidney, and intestine. CaR is ubiquitinated by the E3 ligase dorfin a …
The calcium-sensing receptor (CaR), a member of G protein-coupled receptor family C, regulates systemic calcium homeostasis by activa …
65 results