KCNJ1 Gene

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Liu, D. KCNJ1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4285 (accessed on 29 September 2026).

Liu D. KCNJ1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4285. Accessed September 29, 2026.

Liu, Dean. "KCNJ1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4285 (accessed September 29, 2026).

Liu, D. (2020, December 23). KCNJ1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4285

Liu, Dean. "KCNJ1 Gene." Encyclopedia. Web. 23 December, 2020.

KCNJ1 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/kcnj1

Potassium voltage-gated channel subfamily J member 1

genes

References

Derst C, Konrad M, Köckerling A, Károlyi L, Deschenes G, Daut J, Karschin A,Seyberth HW. Mutations in the ROMK gene in antenatal Bartter syndrome areassociated with impaired K+ channel function. Biochem Biophys Res Commun. 1997Jan 23;230(3):641-5.
Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J,Karschin A, Konrad M. Functional heterogeneity of ROMK mutations linked tohyperprostaglandin E syndrome. Kidney Int. 2001 May;59(5):1803-11.
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW,Levy D, Lifton RP. Rare independent mutations in renal salt handling genescontribute to blood pressure variation. Nat Genet. 2008 May;40(5):592-599. doi:10.1038/ng.118.
Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP,Seyberth HW, Waldegger S, Konrad M. Classification and rescue of ROMK mutationsunderlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2003 Sep;64(3):923-32.
Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H,Sanjad SA, Lifton RP. Genetic heterogeneity of Bartter's syndrome revealed bymutations in the K+ channel, ROMK. Nat Genet. 1996 Oct;14(2):152-6.
Tobin MD, Tomaszewski M, Braund PS, Hajat C, Raleigh SM, Palmer TM, Caulfield M, Burton PR, Samani NJ. Common variants in genes underlying monogenichypertension and hypotension and blood pressure in the general population.Hypertension. 2008 Jun;51(6):1658-64. doi: 10.1161/HYPERTENSIONAHA.108.112664.
Welling PA, Ho K. A comprehensive guide to the ROMK potassium channel: formand function in health and disease. Am J Physiol Renal Physiol. 2009Oct;297(4):F849-63. doi: 10.1152/ajprenal.00181.2009.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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