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Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism.
Gaynor KU, Grigorieva IV, Mirczuk SM, Piret S, Kooblall KG, Stevenson M, Rizzoti K, Bowl MR, Nesbit MA, Christie PT, Fraser WD, Hough T, Whyte MP, Lovell-Badge R, Thakker R. Gaynor KU, et al. Among authors: christie pt. Endocr Connect. 2020 Jan 1;9(2):173-86. doi: 10.1530/EC-19-0478. Online ahead of print. Endocr Connect. 2020. PMID: 31961795 Free PMC article.
Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
Hannan FM, Nesbit MA, Turner JJ, Stacey JM, Cianferotti L, Christie PT, Conigrave AD, Whyte MP, Thakker RV. Hannan FM, et al. Among authors: christie pt. Eur J Hum Genet. 2010 Apr;18(4):442-7. doi: 10.1038/ejhg.2009.161. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809483 Free PMC article.
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Ali A, et al. Among authors: christie pt. Hum Mol Genet. 2007 Feb 1;16(3):265-75. doi: 10.1093/hmg/ddl454. Epub 2007 Jan 8. Hum Mol Genet. 2007. PMID: 17210674
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV. Kennedy AM, et al. Among authors: christie pt. J Clin Invest. 2005 Oct;115(10):2832-42. doi: 10.1172/JCI22900. J Clin Invest. 2005. PMID: 16167086 Free PMC article.
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. Gorvin CM, et al. Among authors: christie pt. J Bone Miner Res. 2019 Mar;34(3):497-507. doi: 10.1002/jbmr.3624. Epub 2018 Dec 14. J Bone Miner Res. 2019. PMID: 30395686 Free PMC article.
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. Gorvin CM, et al. Among authors: christie pt. J Bone Miner Res. 2019 Jul;34(7):1324-1335. doi: 10.1002/jbmr.3695. Epub 2019 Mar 4. J Bone Miner Res. 2019. PMID: 30830987 Free PMC article.
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M, Bouillon R, Thakker RV. Hannan FM, et al. Among authors: christie pt. Clin Endocrinol (Oxf). 2010 Dec;73(6):715-22. doi: 10.1111/j.1365-2265.2010.03870.x. Clin Endocrinol (Oxf). 2010. PMID: 20846291
32 results