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Cancer-associated loss-of-function mutations in KCNQ1 enhance Wnt/beta-catenin signalling disrupting epithelial homeostasis.
Berenguier C, Chen X, Allegrini B, Guizouarn H, Borgese F, Etchebest C, Soriani O, Rapetti-Mauss R. Berenguier C, et al. Oncogene. 2025 Aug;44(31):2715-2729. doi: 10.1038/s41388-025-03447-4. Epub 2025 May 23. Oncogene. 2025. PMID: 40410368
Here, we identify loss-of-function (LOF) mutations in KCNQ1 across multiple epithelial cancers and elucidate their impact on Wnt/beta-catenin signalling. ...Together, these findings uncover an original mechanism linking KCNQ1 dysfunction to aberrant Wnt/beta-catenin …
Here, we identify loss-of-function (LOF) mutations in KCNQ1 across multiple epithelial cancers and elucidate their impact on Wnt/beta …
Targeting the IKs Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants.
Zhong L, Yan Z, Jiang D, Weng KC, Ouyang Y, Zhang H, Lin X, Xiao C, Yang H, Yao J, Kang X, Wang C, Huang C, Shen B, Chung SK, Jiang ZH, Zhu W, Neher E, Silva JR, Hou P. Zhong L, et al. Circ Res. 2024 Sep 13;135(7):722-738. doi: 10.1161/CIRCRESAHA.124.325009. Epub 2024 Aug 21. Circ Res. 2024. PMID: 39166328 Free PMC article.
BACKGROUND: The KCNQ1+KCNE1 (I(Ks)) potassium channel plays a crucial role in cardiac adaptation to stress, in which beta-adrenergic stimulation phosphorylates the I(Ks) channel through the cyclic adenosine monophosphate (cAMP)/PKA (protein kinase A) pathway. ...These key …
BACKGROUND: The KCNQ1+KCNE1 (I(Ks)) potassium channel plays a crucial role in cardiac adaptation to stress, in which beta-adrenergic …
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A, Calandranis ME, Li B, Yang T, Blackwell DJ, Harvey ML, Smith JE, Daniel ZA, Chew AE, Capra JA, Matreyek KA, Fowler DM, Roden DM, Glazer AM. Muhammad A, et al. Genome Med. 2024 May 30;16(1):73. doi: 10.1186/s13073-024-01340-5. Genome Med. 2024. PMID: 38816749 Free PMC article.
Nonsense variants at residues 56-104 generally had WT-like trafficking scores but decreased functional scores, indicating that the latter half of the protein is dispensable for protein trafficking but essential for channel function. 22 of the 30 KCNE1 residues (73%) highly intole …
Nonsense variants at residues 56-104 generally had WT-like trafficking scores but decreased functional scores, indicating that the latter ha …
Single nucleotide polymorphisms (SNPs) that are associated with obesity and type 2 diabetes among Asians: a systematic review and meta-analysis.
Yanasegaran K, Ng JYE, Chua EW, Nawi AM, Ng PY, Abdul Manaf MR. Yanasegaran K, et al. Sci Rep. 2024 Aug 29;14(1):20062. doi: 10.1038/s41598-024-70674-2. Sci Rep. 2024. PMID: 39209904 Free PMC article.
For T2DM, five SNPs, rs7903146 and rs12255372 (TCF7L2 gene), rs13266634 and rs11558471 (SLC30A8 gene) and rs2283228 (KCNQ1 gene) have also shown strong associations with T2DM at OR of 1.64, 1.61, 1.22, 1.29 and 1.60 respectively. ...
For T2DM, five SNPs, rs7903146 and rs12255372 (TCF7L2 gene), rs13266634 and rs11558471 (SLC30A8 gene) and rs2283228 (KCNQ1 gene) have …
Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients.
Shimamoto K, Dagradi F, Ohno S, Spazzolini C, Crotti L, Giovenzana FLF, Musu G, Pedrazzini M, Kusano K, Takegami M, Nishimura K, Horie M, Aiba T, Schwartz PJ. Shimamoto K, et al. JACC Clin Electrophysiol. 2024 Dec;10(12):2584-2596. doi: 10.1016/j.jacep.2024.07.022. Epub 2024 Oct 9. JACC Clin Electrophysiol. 2024. PMID: 39387742 Free article.
METHODS: We retrospectively evaluated 832 LQTS patients genetically screened in Japan (n = 347) and Italy (n = 485), including 698 with a disease-causing variant in the KCNQ1, KCNH2, and SCN5A genes (GEN+), and 134 without variants in these LQTS-related genes (GEN-). ...
METHODS: We retrospectively evaluated 832 LQTS patients genetically screened in Japan (n = 347) and Italy (n = 485), including 698 with a di …
Clinical Impact of Genetic Testing for Long QT Syndrome　- Evidence From a Nationwide LQTS Registry in Japan.
Aiba T, Ohno S, Takegami M, Kato Y, Sakaguchi H, Shimamoto K, Sonoda K, Ida K, Sumitomo N, Nabeshima T, Murakami T, Ninomiya Y, Kato K, Fukuyama M, Makiyama T, Hayashi K, Ohta K, Morita H, Nakajima T, Kaneko Y, Yagihara N, Otsuki S, Kosho T, Yoshida Y, Takamuro M, Ueno M, Takahashi T, Inden Y, Hayabuchi Y, Muraji S, Watanabe S, Nishimura K, Asano Y, Horigome H, Yoshinaga M, Horie M, Shimizu W, Kusano K. Aiba T, et al. Circ J. 2025 May 23;89(6):835-844. doi: 10.1253/circj.CJ-25-0105. Epub 2025 Mar 30. Circ J. 2025. PMID: 40159220 Free article.
Genetic testing using a next-generation sequencing panel and/or Sanger sequencing was performed for 3,770 (98%) patients, genotype was then identified in the following LQTS-associated genes: KCNQ1 (45%), KCNH2 (34%), SCN5A (8%), KCNE1 (0.1%), KCNE2 (0.03%), KCNJ2 (2.7%), C …
Genetic testing using a next-generation sequencing panel and/or Sanger sequencing was performed for 3,770 (98%) patients, genotype was then …
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E, Greco A, Cruzalegui J, Cesar S, Díez-Escuté N, Cerralbo P, Chipa F, Zschaeck I, Slanovic L, Mangas A, Toro R, Brugada J, Sarquella-Brugada G, Campuzano O. Martínez-Barrios E, et al. Hum Genet. 2024 Dec;143(12):1499-1508. doi: 10.1007/s00439-024-02713-x. Epub 2024 Nov 6. Hum Genet. 2024. PMID: 39503779 Free PMC article.
These variants were located in the four main genes: KCNQ1, KCNH2, KCNJ2 or SLC4A3. Additional rare variants located in other genes were associated with other conditions with phenotypic shortened QT intervals, but not definite diagnosis of short QT syndrome. ...
These variants were located in the four main genes: KCNQ1, KCNH2, KCNJ2 or SLC4A3. Additional rare variants located in other genes we …
Exploring genetic and epigenetic markers for predicting or monitoring response to cognitive-behavioral therapy in obsessive-compulsive disorder: A systematic review.
Chen Y, Wang P, Li Z. Chen Y, et al. Neurosci Biobehav Rev. 2025 Jul;174:106192. doi: 10.1016/j.neubiorev.2025.106192. Epub 2025 May 3. Neurosci Biobehav Rev. 2025. PMID: 40324706
The identified predictors included: (1) Genetic polymorphisms (BDNF); (2) Epigenetic modifications (DNA methylation of MAOA, SLC6A4, OXTR, PIWIL1, MIR886, PLEKHA1, KCNQ1, TRPM8, HEBP1, HTR7P1, MAPK8IP3, ENAH, RABGGTB (SNORD45C), MYEF2, GALK2, CEP192, and UIMC1). ...
The identified predictors included: (1) Genetic polymorphisms (BDNF); (2) Epigenetic modifications (DNA methylation of MAOA, SLC6A4, OXTR, P …
Escitalopram-induced QTc prolongation and its relationship with KCNQ1, KCNE1, and KCNH2 gene polymorphisms.
Chen Z, Xu Z, Gao C, Chen L, Tan T, Jiang W, Chen B, Yuan Y, Zhang Z. Chen Z, et al. J Affect Disord. 2024 Feb 15;347:399-405. doi: 10.1016/j.jad.2023.11.084. Epub 2023 Nov 23. J Affect Disord. 2024. PMID: 38000475
However, only some patients get pathological QTc prolongation in clinic. We investigated the influence of KCNQ1, KCNE1, and KCNH2 gene polymorphisms along with clinical factors on escitalopram-induced QTc prolongation. ...LIMITATIONS: A relatively small sample size and lac …
However, only some patients get pathological QTc prolongation in clinic. We investigated the influence of KCNQ1, KCNE1, and KCNH2 gen …
74 results