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A gene conversion hotspot in the human growth hormone (GH1) gene promoter.
Wolf A, Millar DS, Caliebe A, Horan M, Newsway V, Kumpf D, Steinmann K, Chee IS, Lee YH, Mutirangura A, Pepe G, Rickards O, Schmidtke J, Schempp W, Chuzhanova N, Kehrer-Sawatzki H, Krawczak M, Cooper DN. Wolf A, et al. Among authors: millar ds. Hum Mutat. 2009 Feb;30(2):239-47. doi: 10.1002/humu.20850. Hum Mutat. 2009. PMID: 18800374
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA 3rd, Scanlon MF, Krawczak M, Cooper DN, Procter AM. Millar DS, et al. Hum Mutat. 2003 Apr;21(4):424-40. doi: 10.1002/humu.10168. Hum Mutat. 2003. PMID: 12655557
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.
Horan M, Newsway V, Yasmin, Lewis MD, Easter TE, Rees DA, Mahto A, Millar DS, Procter AM, Scanlon MF, Wilkinson IB, Hall IP, Wheatley A, Blakey J, Bath PM, Cockcroft JR, Krawczak M, Cooper DN. Horan M, et al. Among authors: millar ds. Hum Genet. 2006 Jun;119(5):527-40. doi: 10.1007/s00439-006-0166-5. Epub 2006 Mar 30. Hum Genet. 2006. PMID: 16572267
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.
Lewis MD, Horan M, Millar DS, Newsway V, Easter TE, Fryklund L, Gregory JW, Norin M, Del Valle CJ, López-Siguero JP, Cañete R, López-Canti LF, Díaz-Torrado N, Espino R, Ulied A, Scanlon MF, Procter AM, Cooper DN. Lewis MD, et al. Among authors: millar ds. J Clin Endocrinol Metab. 2004 Mar;89(3):1068-75. doi: 10.1210/jc.2003-030652. J Clin Endocrinol Metab. 2004. PMID: 15001589
87 results