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Items: 19

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.

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.

3.

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.

4.

Podocyte-Specific Loss of Krüppel-Like Factor 6 Increases Mitochondrial Injury in Diabetic Kidney Disease.

Horne SJ, Vasquez JM, Guo Y, Ly V, Piret SE, Leonardo AR, Ling J, Revelo MP, Bogenhagen D, Yang VW, He JC, Mallipattu SK.

Diabetes. 2018 Nov;67(11):2420-2433. doi: 10.2337/db17-0958. Epub 2018 Aug 16.

5.

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.

6.

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.

7.

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.

8.

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.

9.

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.

10.

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.

11.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G.

Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18.

12.

Association between genotype and phenotype in uromodulin-associated kidney disease.

Moskowitz JL, Piret SE, Lhotta K, Kitzler TM, Tashman AP, Velez E, Thakker RV, Kotanko P.

Clin J Am Soc Nephrol. 2013 Aug;8(8):1349-57. doi: 10.2215/CJN.11151012. Epub 2013 May 30.

13.

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.

14.

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.

15.

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.

16.

Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.

Lhotta K, Piret SE, Kramar R, Thakker RV, Sunder-Plassmann G, Kotanko P.

Nephron Extra. 2012 Jan;2(1):147-58. doi: 10.1159/000339102. Epub 2012 Jun 1.

17.

Mouse models for inherited endocrine and metabolic disorders.

Piret SE, Thakker RV.

J Endocrinol. 2011 Dec;211(3):211-30. doi: 10.1530/JOE-11-0193. Epub 2011 Jul 15. Review.

PMID:
21765099
18.

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.

Piret SE, Danoy P, Dahan K, Reed AA, Pryce K, Wong W, Torres RJ, Puig JG, Müller T, Kotanko P, Lhotta K, Devuyst O, Brown MA, Thakker RV.

Hum Genet. 2011 Jan;129(1):51-8. doi: 10.1007/s00439-010-0897-1. Epub 2010 Oct 26.

PMID:
20976470
19.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV.

Hum Mol Genet. 2010 May 15;19(10):2028-38. doi: 10.1093/hmg/ddq084. Epub 2010 Feb 27.

PMID:
20190276

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