Johnstone KA - Search Results

1

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D. Adalat S, et al. Among authors: johnstone ka. J Am Soc Nephrol. 2009 May;20(5):1123-31. doi: 10.1681/ASN.2008060633. Epub 2009 Apr 23. J Am Soc Nephrol. 2009. PMID: 19389850 Free PMC article.

2

Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro.

Wirsing A, Johnstone KA, Harries LW, Ellard S, Ryffel GU, Stanik J, Gasperikova D, Klimes I, Murphy R. Wirsing A, et al. Among authors: johnstone ka. Diabet Med. 2010 Jun;27(6):631-5. doi: 10.1111/j.1464-5491.2010.03003.x. Diabet Med. 2010. PMID: 20546279

3

Dysregulation of Hnf1b gene expression in cultured beta-cells in response to cytotoxic fatty acid.

Johnstone KA, Diakogiannaki E, Dhayal S, Morgan NG, Harries LW. Johnstone KA, et al. JOP. 2011 Jan 5;12(1):6-10. JOP. 2011. PMID: 21206094 Free article.

4

Physiological effects of Type 2 diabetes on mRNA processing and gene expression.

Morrison FS, Johnstone KA, Harries LW. Morrison FS, et al. Among authors: johnstone ka. Expert Rev Endocrinol Metab. 2011 Mar;6(2):255-267. doi: 10.1586/eem.10.76. Expert Rev Endocrinol Metab. 2011. PMID: 30290446

5

Oxidative metabolism genes are not responsive to oxidative stress in rodent Beta cell lines.

Morrison F, Johnstone K, Murray A, Locke J, Harries LW. Morrison F, et al. Exp Diabetes Res. 2012;2012:793783. doi: 10.1155/2012/793783. Epub 2012 Feb 20. Exp Diabetes Res. 2012. PMID: 22454629 Free PMC article.

6

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group; Johnstone K, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT. Garin I, et al. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3105-10. doi: 10.1073/pnas.0910533107. Epub 2010 Jan 28. Proc Natl Acad Sci U S A. 2010. PMID: 20133622 Free PMC article.

7

Temporal and developmental requirements for the Prader-Willi imprinting center.

DuBose AJ, Smith EY, Johnstone KA, Resnick JL. DuBose AJ, et al. Among authors: johnstone ka. Proc Natl Acad Sci U S A. 2012 Feb 28;109(9):3446-50. doi: 10.1073/pnas.1115057109. Epub 2012 Feb 13. Proc Natl Acad Sci U S A. 2012. PMID: 22331910 Free PMC article.

8

Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

Sutherland HF, Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA, Halford S, Kim UJ, Goodship J, Baldini A, Scambler PJ. Sutherland HF, et al. Among authors: johnstone ka. Am J Hum Genet. 1996 Jul;59(1):23-31. Am J Hum Genet. 1996. PMID: 8659529 Free PMC article.

9

Evidence for genetic modifiers of postnatal lethality in PWS-IC deletion mice.

Chamberlain SJ, Johnstone KA, DuBose AJ, Simon TA, Bartolomei MS, Resnick JL, Brannan CI. Chamberlain SJ, et al. Among authors: johnstone ka. Hum Mol Genet. 2004 Dec 1;13(23):2971-7. doi: 10.1093/hmg/ddh314. Epub 2004 Sep 30. Hum Mol Genet. 2004. PMID: 15459179

10

A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects.

Johnstone KA, DuBose AJ, Futtner CR, Elmore MD, Brannan CI, Resnick JL. Johnstone KA, et al. Hum Mol Genet. 2006 Feb 1;15(3):393-404. doi: 10.1093/hmg/ddi456. Epub 2005 Dec 20. Hum Mol Genet. 2006. PMID: 16368707

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