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Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
Nat Commun. 2019 Nov 15;10(1):5175. doi: 10.1038/s41467-019-13145-x.
Nat Commun. 2019.
PMID: 31729369
Free PMC article.
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
Gorvin CM, Stokes VJ, Boon H, Cranston T, Glück AK, Bahl S, Homfray T, Aung T, Shine B, Lines KE, Hannan FM, Thakker RV.
Gorvin CM, et al. Among authors: gluck ak.
J Clin Endocrinol Metab. 2020 Mar 1;105(3):952-63. doi: 10.1210/clinem/dgz251.
J Clin Endocrinol Metab. 2020.
PMID: 31820785
Free PMC article.
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The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell lines.
Lines KE, Gluck AK, Thongjuea S, Bountra C, Thakker RV, Gorvin CM.
Lines KE, et al. Among authors: gluck ak.
J Mol Endocrinol. 2021 Jul 26;67(3):83-94. doi: 10.1530/JME-21-0030.
J Mol Endocrinol. 2021.
PMID: 34223822
Free PMC article.
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PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.
Sastre A, Valentino K, Hannan FM, Lines KE, Gluck AK, Stevenson M, Ryalls M, Gorrigan RJ, Pullen D, Buck J, Sankaranarayanan S, Allgrove J, Thakker RV, Gevers EF.
Sastre A, et al. Among authors: gluck ak.
N Engl J Med. 2021 Jul 8;385(2):189-191. doi: 10.1056/NEJMc2034981.
N Engl J Med. 2021.
PMID: 34233101
Free PMC article.
No abstract available.
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Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O'Toole S, Goodchild E, Marker A, Senanayake R, Garg S, Åkerström T, Backman S, Jordan S, Polubothu S, Berney DM, Gluck A, Lines KE, Thakker RV, Tuthill A, Joyce C, Kaski JP, Karet Frankl FE, Metherell LA, Teo AED, Gurnell M, Parvanta L, Drake WM, Wozniak E, Klinzing D, Kuan JL, Tiang Z, Gomez Sanchez CE, Hellman P, Foo RSY, Mein CA, Kinsler VA, Björklund P, Storr HL, Zennaro MC, Brown MJ.
Zhou J, et al.
Nat Genet. 2021 Sep;53(9):1360-1372. doi: 10.1038/s41588-021-00906-y. Epub 2021 Aug 12.
Nat Genet. 2021.
PMID: 34385710
Free PMC article.
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Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
Howles SA, Wiberg A, Goldsworthy M, Bayliss AL, Gluck AK, Ng M, Grout E, Tanikawa C, Kamatani Y, Terao C, Takahashi A, Kubo M, Matsuda K, Thakker RV, Turney BW, Furniss D.
Howles SA, et al. Among authors: gluck ak.
Nat Commun. 2022 May 30;13(1):3115. doi: 10.1038/s41467-022-30920-5.
Nat Commun. 2022.
PMID: 35637176
Free PMC article.
No abstract available.
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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: gluck ak.
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.
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GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Zecchin D, Knöpfel N, Gluck AK, Stevenson M, Sauvadet A, Polubothu S, Barberan-Martin S, Michailidis F, Bryant D, Inoue A, Lines KE, Hannan FM, Semple RK, Thakker RV, Kinsler VA.
Zecchin D, et al. Among authors: gluck ak.
J Invest Dermatol. 2024 Apr;144(4):811-819.e4. doi: 10.1016/j.jid.2023.08.028. Epub 2023 Oct 4.
J Invest Dermatol. 2024.
PMID: 37802293
Free PMC article.
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