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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska J, Känsäkoski J, Skibsbye L, Vaaralahti K, Liu X, Lodge EJ, Tang C, Yuan L, Fagerholm R, Kanters JK, Lahermo P, Kaunisto M, Keski-Filppula R, Vuoristo S, Pulli K, Ebeling T, Valanne L, Sankila EM, Kivirikko S, Lääperi M, Casoni F, Giacobini P, Phan-Hug F, Buki T, Tena-Sempere M, Pitteloud N, Veijola R, Lipsanen-Nyman M, Kaunisto K, Mollard P, Andoniadou CL, Hirsch JA, Varjosalo M, Jespersen T, Raivio T. Tommiska J, et al. Among authors: skibsbye l. Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z. Nat Commun. 2017. PMID: 29097701 Free PMC article.
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL, Kanters JK, Dembic M, Jespersen T, Skibsbye L, Aidt FH, Eschen O, Graff C, Behr ER, Schlamowitz S, Corfield V, McKenna WJ, Christiansen M. Hedley PL, et al. Among authors: skibsbye l. Circ Cardiovasc Genet. 2013 Oct;6(5):452-61. doi: 10.1161/CIRCGENETICS.113.000137. Epub 2013 Sep 10. Circ Cardiovasc Genet. 2013. PMID: 24021552
Regulation of Kv1.4 potassium channels by PKC and AMPK kinases.
Andersen MN, Skibsbye L, Saljic A, Larsen MZ, Rasmussen HB, Jespersen T. Andersen MN, et al. Among authors: skibsbye l. Channels (Austin). 2018 Jan 1;12(1):34-44. doi: 10.1080/19336950.2017.1405196. Epub 2017 Dec 22. Channels (Austin). 2018. PMID: 29168928 Free PMC article.
PKC and AMPK regulation of Kv1.5 potassium channels.
Andersen MN, Skibsbye L, Tang C, Petersen F, MacAulay N, Rasmussen HB, Jespersen T. Andersen MN, et al. Among authors: skibsbye l. Channels (Austin). 2015;9(3):121-8. doi: 10.1080/19336950.2015.1036205. Channels (Austin). 2015. PMID: 26043299 Free PMC article.
22 results