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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: kanters jk. Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z. Nat Commun. 2017. PMID: 29097701 Free PMC article.
Does KCNE5 play a role in long QT syndrome?
Hofman-Bang J, Jespersen T, Grunnet M, Larsen LA, Andersen PS, Kanters JK, Kjeldsen K, Christiansen M. Hofman-Bang J, et al. Among authors: kanters jk. Clin Chim Acta. 2004 Jul;345(1-2):49-53. doi: 10.1016/j.cccn.2004.02.033. Clin Chim Acta. 2004. PMID: 15193977
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: kanters jk. 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
A novel approach for obtaining 12-lead electrocardiograms in horses.
Hesselkilde EM, Isaksen JL, Petersen BV, Carstensen H, Jespersen T, Pehrson S, Kanters JK, Buhl R. Hesselkilde EM, et al. Among authors: kanters jk. J Vet Intern Med. 2021 Jan;35(1):521-531. doi: 10.1111/jvim.15980. Epub 2020 Dec 4. J Vet Intern Med. 2021. PMID: 33274799 Free PMC article.
Age-dependent transition from islet insulin hypersecretion to hyposecretion in mice with the long QT-syndrome loss-of-function mutation Kcnq1-A340V.
Lubberding AF, Zhang J, Lundh M, Nielsen TS, Søndergaard MS, Villadsen M, Skovhøj EZ, Boer GA, Hansen JB, Thomsen MB, Treebak JT, Holst JJ, Kanters JK, Mandrup-Poulsen T, Jespersen T, Emanuelli B, Torekov SS. Lubberding AF, et al. Among authors: kanters jk. Sci Rep. 2021 Jun 10;11(1):12253. doi: 10.1038/s41598-021-90452-8. Sci Rep. 2021. PMID: 34112814 Free PMC article.
Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population.
Paludan-Müller C, Larsen S, Ahlberg G, Andreasen L, Monfort LM, Svendsen JH, Jespersen T, Bundgaard H, Kanters JK, Olesen MS. Paludan-Müller C, et al. Among authors: kanters jk. Circ Genom Precis Med. 2022 Feb;15(1):e003574. doi: 10.1161/CIRCGEN.121.003574. Epub 2022 Feb 1. Circ Genom Precis Med. 2022. PMID: 35103494 No abstract available.
195 results