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AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity.
Gorvin CM, Rogers A, Hastoy B, Tarasov AI, Frost M, Sposini S, Inoue A, Whyte MP, Rorsman P, Hanyaloglu AC, Breitwieser GE, Thakker RV. Gorvin CM, et al. Among authors: rogers a. Cell Rep. 2018 Jan 23;22(4):1054-1066. doi: 10.1016/j.celrep.2017.12.089. Epub 2018 Jan 28. Cell Rep. 2018. PMID: 29420171 Free PMC article.
Clinically relevant genetic advances in endocrinology.
Rogers A, Thakker RV. Rogers A, et al. Clin Med (Lond). 2013 Jun;13(3):299-305. doi: 10.7861/clinmedicine.13-3-299. Clin Med (Lond). 2013. PMID: 23760708 Free PMC article. No abstract available.
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV. Rogers A, et al. J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7. J Clin Endocrinol Metab. 2014. PMID: 24708097 Free PMC article.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV. Hannan FM, et al. Among authors: rogers a. Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. Hum Mol Genet. 2015. PMID: 26082470 Free PMC article.
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.
Howles SA, Hannan FM, Babinsky VN, Rogers A, Gorvin CM, Rust N, Richardson T, McKenna MJ, Nesbit MA, Thakker RV. Howles SA, et al. Among authors: rogers a. N Engl J Med. 2016 Apr 7;374(14):1396-1398. doi: 10.1056/NEJMc1511646. N Engl J Med. 2016. PMID: 27050234 Free PMC article. No abstract available.
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: rogers a. JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103. JCI Insight. 2017. PMID: 28194447 Free PMC article.
Association of prolactin receptor (PRLR) variants with prolactinomas.
Gorvin CM, Newey PJ, Rogers A, Stokes V, Neville MJ, Lines KE, Ntali G, Lees P, Morrison PJ, Singhellakis PN, Malandrinou FC, Karavitaki N, Grossman AB, Karpe F, Thakker RV. Gorvin CM, et al. Among authors: rogers a. Hum Mol Genet. 2019 Mar 15;28(6):1023-1037. doi: 10.1093/hmg/ddy396. Hum Mol Genet. 2019. PMID: 30445560 Free PMC article.
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression.
Kooblall KG, Boon H, Cranston T, Stevenson M, Pagnamenta AT, Rogers A, Grozinsky-Glasberg S, Richardson T, Flanagan DE; Genomics England Research Consortium; Taylor JC, Lines KE, Thakker RV. Kooblall KG, et al. Among authors: rogers a. J Bone Miner Res. 2021 Jan;36(1):100-109. doi: 10.1002/jbmr.4156. Epub 2020 Sep 15. J Bone Miner Res. 2021. PMID: 32780883 Free article.
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M, Root A, Nesbit MA, Hannan FM, Thakker RV. Howles SA, et al. Among authors: rogers a. J Bone Miner Res. 2023 Jun;38(6):907-917. doi: 10.1002/jbmr.4803. Epub 2023 Apr 18. J Bone Miner Res. 2023. PMID: 36970776 Free PMC article.
3,476 results