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Items: 1 to 50 of 297

1.

What is the appropriate management of nonfunctioning pancreatic neuroendocrine tumours disclosed on screening in adult patients with multiple endocrine neoplasia type 1?

Challis BG, Casey RT, Grossman A, Newell-Price J, Newey P, Thakker RV.

Clin Endocrinol (Oxf). 2019 Sep 10. doi: 10.1111/cen.14094. [Epub ahead of print]

PMID:
31505044
2.

A Novel Role for GATA3 in Mesangial Cells in Glomerular Development and Injury.

Grigorieva IV, Oszwald A, Grigorieva EF, Schachner H, Neudert B, Ostendorf T, Floege J, Lindenmeyer MT, Cohen CD, Panzer U, Aigner C, Schmidt A, Grosveld F, Thakker RV, Rees AJ, Kain R.

J Am Soc Nephrol. 2019 Sep;30(9):1641-1658. doi: 10.1681/ASN.2018111143. Epub 2019 Aug 12.

PMID:
31405951
3.

MANAGEMENT OF ENDOCRINE DISEASE: Unmet therapeutic, educational and scientific needs in parathyroid disorders.

Bollerslev J, Schalin-Jantti C, Rejnmark L, Siggelkow H, Morreau H, Thakker RV, Sitges-Serra A, Cetani F, Marcocci C; PARAT Workshop Group.

Eur J Endocrinol. 2019 Sep 1;181(3):P1-P19. doi: 10.1530/EJE-19-0316. Epub 2019 Jun 1. Review.

4.

Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.

Frederiksen A, Rossing M, Hermann P, Ejersted C, Thakker RV, Frost M.

J Clin Endocrinol Metab. 2019 Sep 1;104(9):3637-3646. doi: 10.1210/jc.2019-00082.

5.

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.

6.

Standards of Care for Hypoparathyroidism in Adults.

Khan AA, Koch C, Van Uum SHM, Baillargeon JP, Bollerslev J, Brandi ML, Marcocci C, Rejnmark L, Rizzoli R, Shrayyef MZ, Thakker RV, Yildiz BO, Clarke B.

Eur J Endocrinol. 2018 Dec 1. pii: EJE-18-0609.R1. doi: 10.1530/EJE-18-0609. [Epub ahead of print]

7.

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.

8.

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV.

Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. Review.

9.

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.

10.

MiR-15a/miR-16-1 expression inversely correlates with cyclin D1 levels in Men1 pituitary NETs.

Lines KE, Newey PJ, Yates CJ, Stevenson M, Dyar R, Walls GV, Bowl MR, Thakker RV.

J Endocrinol. 2018 Sep 1. pii: JOE-18-0278.R2. doi: 10.1530/JOE-18-0278. [Epub ahead of print]

11.

Genetic approaches to metabolic bone diseases.

Hannan FM, Newey PJ, Whyte MP, Thakker RV.

Br J Clin Pharmacol. 2019 Jun;85(6):1147-1160. doi: 10.1111/bcp.13803. Epub 2018 Nov 28. Review.

12.

An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.

Esapa CT, Piret SE, Nesbit MA, Thomas GP, Coulton LA, Gallagher OM, Simon MM, Kumar S, Mallon AM, Bellantuono I, Brown MA, Croucher PI, Potter PK, Brown SD, Cox RD, Thakker RV.

JBMR Plus. 2018 Mar 8;2(3):154-163. doi: 10.1002/jbm4.10033. eCollection 2018 May.

13.

Molecular Genetic Studies of Pancreatic Neuroendocrine Tumors: New Therapeutic Approaches.

Stevenson M, Lines KE, Thakker RV.

Endocrinol Metab Clin North Am. 2018 Sep;47(3):525-548. doi: 10.1016/j.ecl.2018.04.007. Review.

PMID:
30098714
14.

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.

15.

Bone matrix development in steroid-induced osteoporosis is associated with a consistently reduced fibrillar stiffness linked to altered bone mineral quality.

Xi L, De Falco P, Barbieri E, Karunaratne A, Bentley L, Esapa CT, Terrill NJ, Brown SDM, Cox RD, Davis GR, Pugno NM, Thakker RV, Gupta HS.

Acta Biomater. 2018 Aug;76:295-307. doi: 10.1016/j.actbio.2018.05.053. Epub 2018 Jun 15.

16.

Further delineation of Malan syndrome.

Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC.

Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25.

17.

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.

18.

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.

19.

Current and emerging therapies for PNETs in patients with or without MEN1.

Frost M, Lines KE, Thakker RV.

Nat Rev Endocrinol. 2018 Apr;14(4):216-227. doi: 10.1038/nrendo.2018.3. Epub 2018 Feb 16. Review.

20.

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.

21.

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.

22.

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Newey PJ, Berg JN, Zhou K, Palmer CNA, Thakker RV.

J Endocr Soc. 2017 Nov 15;1(12):1507-1526. doi: 10.1210/js.2017-00330. eCollection 2017 Dec 1.

23.

Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.

Hannan FM, Olesen MK, Thakker RV.

Br J Pharmacol. 2018 Nov;175(21):4083-4094. doi: 10.1111/bph.14086. Epub 2017 Dec 11. Review.

PMID:
29127708
24.

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.

25.

Hypoparathyroidism.

Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM.

Nat Rev Dis Primers. 2017 Oct 5;3:17080. doi: 10.1038/nrdp.2017.80.

PMID:
28980621
26.

Hypercalcemic Disorders in Children.

Stokes VJ, Nielsen MF, Hannan FM, Thakker RV.

J Bone Miner Res. 2017 Nov;32(11):2157-2170. doi: 10.1002/jbmr.3296. Epub 2017 Nov 2. Review.

27.

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L, Stevenson M, Thakker RV.

Hum Mutat. 2017 Dec;38(12):1621-1648. doi: 10.1002/humu.23337. Epub 2017 Sep 25. Review.

28.

Hypoparathyroidism.

Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM.

Nat Rev Dis Primers. 2017 Aug 31;3:17055. doi: 10.1038/nrdp.2017.55. Review. Erratum in: Nat Rev Dis Primers. 2017 Oct 05;3:17080.

PMID:
28857066
29.

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.

30.

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.

31.

Epigenetic pathway inhibitors represent potential drugs for treating pancreatic and bronchial neuroendocrine tumors.

Lines KE, Stevenson M, Filippakopoulos P, Müller S, Lockstone HE, Wright B, Grozinsky-Glasberg S, Grossman AB, Knapp S, Buck D, Bountra C, Thakker RV.

Oncogenesis. 2017 May 15;6(5):e332. doi: 10.1038/oncsis.2017.30.

32.

A MEN1 pancreatic neuroendocrine tumour mouse model under temporal control.

Lines KE, Vas Nunes RP, Frost M, Yates CJ, Stevenson M, Thakker RV.

Endocr Connect. 2017 May;6(4):232-242. doi: 10.1530/EC-17-0040. Epub 2017 Apr 18.

33.

Genomic profiling reveals mutational landscape in parathyroid carcinomas.

Pandya C, Uzilov AV, Bellizzi J, Lau CY, Moe AS, Strahl M, Hamou W, Newman LC, Fink MY, Antipin Y, Yu W, Stevenson M, Cavaco BM, Teh BT, Thakker RV, Morreau H, Schadt EE, Sebra R, Li SD, Arnold A, Chen R.

JCI Insight. 2017 Mar 23;2(6):e92061. doi: 10.1172/jci.insight.92061.

34.

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.

Piret SE, Olinger E, Reed AAC, Nesbit MA, Hough TA, Bentley L, Devuyst O, Cox RD, Thakker RV.

Dis Model Mech. 2017 Jun 1;10(6):773-786. doi: 10.1242/dmm.029488. Epub 2017 Mar 21.

35.

Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome.

Walls GV, Stevenson M, Lines KE, Newey PJ, Reed AAC, Bowl MR, Jeyabalan J, Harding B, Bradley KJ, Manek S, Chen J, Wang P, Williams BO, Teh BT, Thakker RV.

Oncogene. 2017 Jul 13;36(28):4025-4036. doi: 10.1038/onc.2017.43. Epub 2017 Mar 13.

36.

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.

37.

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.

38.

Expression profiling of colorectal cancer cells reveals inhibition of DNA replication licensing by extracellular calcium.

Aggarwal A, Schulz H, Manhardt T, Bilban M, Thakker RV, Kallay E.

Biochim Biophys Acta Mol Cell Res. 2017 Jun;1864(6):987-996. doi: 10.1016/j.bbamcr.2017.01.017. Epub 2017 Feb 1.

39.

Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.

Esapa CT, Piret SE, Nesbit MA, Loh NY, Thomas G, Croucher PI, Brown MA, Brown SD, Cox RD, Thakker RV.

PLoS One. 2016 Dec 13;11(12):e0167916. doi: 10.1371/journal.pone.0167916. eCollection 2016.

40.

Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.

Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell AM, McGurren K, Cuesta M, Ryan AW, Herincs M, Hernández-Ramírez LC, Holland A, Samuels J, Aflorei ED, Barry S, Dénes J, Pernicova I, Stiles CE, Trivellin G, McCloskey R, Ajzensztejn M, Abid N, Akker SA, Mercado M, Cohen M, Thakker RV, Baldeweg S, Barkan A, Musat M, Levy M, Orme SM, Unterländer M, Burger J, Kumar AV, Ellard S, McPartlin J, McManus R, Linden GJ, Atkinson B, Balding DJ, Agha A, Thompson CJ, Hunter SJ, Thomas MG, Morrison PJ, Korbonits M.

Hum Mutat. 2017 Jan;38(1):78-85. doi: 10.1002/humu.23121. Epub 2016 Oct 4.

41.

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM, Babinsky VN, Thakker RV.

J Mol Endocrinol. 2016 Oct;57(3):R127-42. doi: 10.1530/JME-16-0124. Review.

42.

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.

43.

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, Brown SD.

Nat Commun. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444.

44.

Genetics of parathyroid tumours.

Thakker RV.

J Intern Med. 2016 Dec;280(6):574-583. doi: 10.1111/joim.12523. Epub 2016 Jun 16. Review.

45.

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.

46.

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.

47.

Pasireotide Therapy of Multiple Endocrine Neoplasia Type 1-Associated Neuroendocrine Tumors in Female Mice Deleted for an Men1 Allele Improves Survival and Reduces Tumor Progression.

Walls GV, Stevenson M, Soukup BS, Lines KE, Grossman AB, Schmid HA, Thakker RV.

Endocrinology. 2016 May;157(5):1789-98. doi: 10.1210/en.2015-1965. Epub 2016 Mar 18.

48.

Presentation of Hypoparathyroidism: Etiologies and Clinical Features.

Shoback DM, Bilezikian JP, Costa AG, Dempster D, Dralle H, Khan AA, Peacock M, Raffaelli M, Silva BC, Thakker RV, Vokes T, Bouillon R.

J Clin Endocrinol Metab. 2016 Jun;101(6):2300-12. doi: 10.1210/jc.2015-3909. Epub 2016 Mar 4.

PMID:
26943721
49.

Epidemiology and Diagnosis of Hypoparathyroidism.

Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA, Mannstadt MM, Bilezikian JP, Romanischen AF, Thakker RV.

J Clin Endocrinol Metab. 2016 Jun;101(6):2284-99. doi: 10.1210/jc.2015-3908. Epub 2016 Mar 4. Review.

50.

Management of Hypoparathyroidism: Summary Statement and Guidelines.

Brandi ML, Bilezikian JP, Shoback D, Bouillon R, Clarke BL, Thakker RV, Khan AA, Potts JT Jr.

J Clin Endocrinol Metab. 2016 Jun;101(6):2273-83. doi: 10.1210/jc.2015-3907. Epub 2016 Mar 4. Review.

PMID:
26943719

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