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Items: 30

1.

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.

J Bone Miner Res. 2019 Jul;34(7):1324-1335. doi: 10.1002/jbmr.3695. Epub 2019 Mar 4.

2.

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.

Hum Mol Genet. 2019 Mar 15;28(6):1023-1037. doi: 10.1093/hmg/ddy396.

3.

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.

J Bone Miner Res. 2019 Mar;34(3):497-507. doi: 10.1002/jbmr.3624. Epub 2018 Dec 14.

4.

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.

Gorvin CM, Frost M, Malinauskas T, Cranston T, Boon H, Siebold C, Jones EY, Hannan FM, Thakker RV.

Hum Mol Genet. 2018 Nov 1;27(21):3720-3733. doi: 10.1093/hmg/ddy263.

5.

Vascular wall regulator of G-protein signalling-1 (RGS-1) is required for angiotensin II-mediated blood pressure control.

Patel J, Chuaiphichai S, Douglas G, Gorvin CM, Channon KM.

Vascul Pharmacol. 2018 Sep;108:15-22. doi: 10.1016/j.vph.2018.04.002. Epub 2018 Apr 11.

6.

Insights into calcium-sensing receptor trafficking and biased signalling by studies of calcium homeostasis.

Gorvin CM.

J Mol Endocrinol. 2018 Jul;61(1):R1-R12. doi: 10.1530/JME-18-0049. Epub 2018 Mar 29. Review.

PMID:
29599414
7.

N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice.

Gorvin CM, Rogers A, Stewart M, Paudyal A, Hough TA, Teboul L, Wells S, Brown SD, Cox RD, Thakker RV.

JBMR Plus. 2017 May 2;1(1):3-15. doi: 10.1002/jbm4.10001.

8.

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.

Gorvin CM, Babinsky VN, Malinauskas T, Nissen PH, Schou AJ, Hanyaloglu AC, Siebold C, Jones EY, Hannan FM, Thakker RV.

Sci Signal. 2018 Feb 20;11(518). pii: eaan3714. doi: 10.1126/scisignal.aan3714.

9.

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.

Cell Rep. 2018 Jan 23;22(4):1054-1066. doi: 10.1016/j.celrep.2017.12.089. Epub 2018 Jan 28.

10.

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.

Hum Mol Genet. 2018 Mar 1;27(5):901-911. doi: 10.1093/hmg/ddy010.

11.

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Howles SA, Hannan FM, Gorvin CM, Piret SE, Paudyal A, Stewart M, Hough TA, Nesbit MA, Wells S, Brown SD, Cox RD, Thakker RV.

JCI Insight. 2017 Oct 19;2(20). pii: 96540. doi: 10.1172/jci.insight.96540.

12.

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation.

Gorvin CM, Hannan FM, Cranston T, Valta H, Makitie O, Schalin-Jantti C, Thakker RV.

J Bone Miner Res. 2018 Jan;33(1):32-41. doi: 10.1002/jbmr.3241. Epub 2017 Sep 22.

13.

Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy.

Babinsky VN, Hannan FM, Ramracheya RD, Zhang Q, Nesbit MA, Hugill A, Bentley L, Hough TA, Joynson E, Stewart M, Aggarwal A, Prinz-Wohlgenannt M, Gorvin CM, Kallay E, Wells S, Cox RD, Richards D, Rorsman P, Thakker RV.

Endocrinology. 2017 Aug 1;158(8):2486-2502. doi: 10.1210/en.2017-00111.

14.

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.

JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103.

15.

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.

Roszko KL, Bi R, Gorvin CM, Bräuner-Osborne H, Xiong XF, Inoue A, Thakker RV, Strømgaard K, Gardella T, Mannstadt M.

JCI Insight. 2017 Feb 9;2(3):e91079. doi: 10.1172/jci.insight.91079.

16.

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

Piret SE, Gorvin CM, Trinh A, Taylor J, Lise S, Taylor JC, Ebeling PR, Thakker RV.

Am J Med Genet A. 2016 Nov;170(11):2988-2992. doi: 10.1002/ajmg.a.37755. Epub 2016 Aug 19.

17.

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.

N Engl J Med. 2016 Apr 7;374(14):1396-1398. doi: 10.1056/NEJMc1511646. No abstract available. Erratum in: N Engl J Med. 2016 Jun 9;374(23):e30.

18.

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.

Babinsky VN, Hannan FM, Gorvin CM, Howles SA, Nesbit MA, Rust N, Hanyaloglu AC, Hu J, Spiegel AM, Thakker RV.

J Biol Chem. 2016 May 13;291(20):10876-85. doi: 10.1074/jbc.M115.696401. Epub 2016 Mar 18.

19.

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).

Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1207-14. doi: 10.1002/jbmr.2797.

20.

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1200-6. doi: 10.1002/jbmr.2778. Epub 2016 Feb 6.

21.

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.

Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16.

22.

The prolactin receptor: Diverse and emerging roles in pathophysiology.

Gorvin CM.

J Clin Transl Endocrinol. 2015 May 16;2(3):85-91. doi: 10.1016/j.jcte.2015.05.001. eCollection 2015 Sep. Review.

23.

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.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7.

24.

Mutant prolactin receptor and familial hyperprolactinemia.

Newey PJ, Gorvin CM, Thakker RV.

N Engl J Med. 2014 Mar 6;370(10):977-8. doi: 10.1056/NEJMc1315848. No abstract available.

PMID:
24597877
25.

Mutant prolactin receptor and familial hyperprolactinemia.

Newey PJ, Gorvin CM, Cleland SJ, Willberg CB, Bridge M, Azharuddin M, Drummond RS, van der Merwe PA, Klenerman P, Bountra C, Thakker RV.

N Engl J Med. 2013 Nov 21;369(21):2012-2020. doi: 10.1056/NEJMoa1307557. Epub 2013 Nov 6.

26.

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.

Gorvin CM, Wilmer MJ, Piret SE, Harding B, van den Heuvel LP, Wrong O, Jat PS, Lippiat JD, Levtchenko EN, Thakker RV.

Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):7014-9. doi: 10.1073/pnas.1302063110. Epub 2013 Apr 9.

27.

Whole-exome sequencing studies of nonfunctioning pituitary adenomas.

Newey PJ, Nesbit MA, Rimmer AJ, Head RA, Gorvin CM, Attar M, Gregory L, Wass JA, Buck D, Karavitaki N, Grossman AB, McVean G, Ansorge O, Thakker RV.

J Clin Endocrinol Metab. 2013 Apr;98(4):E796-800. doi: 10.1210/jc.2012-4028. Epub 2013 Feb 28.

28.

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

Loh NY, Bentley L, Dimke H, Verkaart S, Tammaro P, Gorvin CM, Stechman MJ, Ahmad BN, Hannan FM, Piret SE, Evans H, Bellantuono I, Hough TA, Fraser WD, Hoenderop JG, Ashcroft FM, Brown SD, Bindels RJ, Cox RD, Thakker RV.

PLoS One. 2013;8(1):e55412. doi: 10.1371/journal.pone.0055412. Epub 2013 Jan 30.

29.

A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation.

Piret SE, Esapa CT, Gorvin CM, Head R, Loh NY, Devuyst O, Thomas G, Brown SD, Brown M, Croucher P, Cox R, Thakker RV.

PLoS One. 2012;7(9):e45217. Epub 2012 Sep 14.

30.

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

Newey PJ, Nesbit MA, Rimmer AJ, Attar M, Head RT, Christie PT, Gorvin CM, Stechman M, Gregory L, Mihai R, Sadler G, McVean G, Buck D, Thakker RV.

J Clin Endocrinol Metab. 2012 Oct;97(10):E1995-2005. doi: 10.1210/jc.2012-2303. Epub 2012 Aug 1.

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