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Items: 3


Targeted disruption of the Kcnj5 gene in the female mouse lowers aldosterone levels.

Hardege I, Long L, Al Maskari R, Figg N, O'Shaughnessy KM.

Clin Sci (Lond). 2018 Jan 16;132(1):145-156. doi: 10.1042/CS20171285. Print 2018 Jan 16.


A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.

Al Maskari R, Yasmin, Cleary S, Figg N, Mehta S, Rassl D, Wilkinson I, O'Shaughnessy KM.

Eur J Hum Genet. 2016 Jan;25(1):157-160. doi: 10.1038/ejhg.2016.143. Epub 2016 Oct 26.


Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.

Schumacher FR, Siew K, Zhang J, Johnson C, Wood N, Cleary SE, Al Maskari RS, Ferryman JT, Hardege I, Yasmin, Figg NL, Enchev R, Knebel A, O'Shaughnessy KM, Kurz T.

EMBO Mol Med. 2015 Oct;7(10):1285-306. doi: 10.15252/emmm.201505444.

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