A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management

Autor: Simona Bene Watts, Barbara Gauthier, Anders C. Erickson, Julie Morrison, Mavis Sebastian, Lawrence Gillman, Sarah McIntosh, Connie Ens, Elizabeth Sherwin, Rod McCormick, Shubhayan Sanatani, Laura Arbour

Publikováno v: Frontiers in Pediatrics, Vol 12 (2024)

IntroductionCongenital Long QT Syndrome (LQTS) is common in a First Nations community in Northern British Columbia due to the founder variant KCNQ1 p.V205M. Although well characterized molecularly and clinically in adults, no data have been previousl

Externí odkaz: https://doaj.org/article/18499b3cdaea4a0baf897ebbacd8c308

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shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele

Autor: Lucía Cócera-Ortega, Ronald Wilders, Selina C. Kamps, Benedetta Fabrizi, Irit Huber, Ingeborg van der Made, Anouk van den Bout, Dylan K. de Vries, Lior Gepstein, Arie O. Verkerk, Yigal M. Pinto, Anke J. Tijsen

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 7; Pages: 4053
International journal of molecular sciences, 23(7):4053. Multidisciplinary Digital Publishing Institute (MDPI)

Long-QT syndrome type 1 (LQT1) is caused by mutations in KCNQ1. Patients heterozygous for such a mutation co-assemble both mutant and wild-type KCNQ1-encoded subunits into tetrameric Kv7.1 potassium channels. Here, we investigated whether allele-spec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae9e01a9139de01455ee7a7b717fe33

EKG-Charakteristika und Genotyp-Phänotyp-Beziehungen eines LQT1-Kollektivs

Autor: Suero Molina, Jana Christine

Das Long-QT-Syndrom Typ 1 (LQT1) ist eine angeborene Ionenkanalerkrankung, bei der eine gestoerte myokardiale Reizleitung fuer das Auftreten maligner Herzrhythmusstoerungen praedestiniert. Die vorliegende Promotionsarbeit analysiert retrospektiv in e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c0a7a9d672b476a0c22ed2dd93583ea

KCNQ1 geni CRISPR/CAS9 sistemi ile düzenlenmiş insan uyarılmış pluripotent kök hücre kaynaklı kardiyomiyositlerin karakterizasyonu

Autor: Torun, Tuğçe

Kalp ritim bozukluklarından klinikte sıklıkla rastlanan kalıtımsal Uzun QT (UQT) sendromu, hastaya özgü uyarılmış pluripotent kök (UPK) hücre kökenli kardiyomiyositler kullanılarak in vitro modellenebilmektedir. UQT sendromu Tip 1 tanı

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e6eec5d94ae3963e64c29fd1bed67bfe
https://acikbilim.yok.gov.tr/handle/20.500.12812/108120