PMC Links for GEO Profiles (Select 83897123) - PMC

Links from GEO Profiles

Items: 1 to 20 of 302

<< First< Prev

Page of 16

Select item 112039061.

Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients

Charles Morgat, Véronique Fressart, Alessandra Pia Porretta, Nathalie Neyroud, Anne Messali, Yassine Temmar, Vincent Algalarrondo, Elodie Surget, Adrien Bloch, Antoine Leenhardt, Isabelle Denjoy, Fabrice Extramiana

Europace. 2024 Jun; 26(6): euae136. Published online 2024 Jun 3. doi: 10.1093/europace/euae136

PMCID:: PMC11203906

Abstract Article PDF–260K

Select item 108601852.

Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians

Ishan Sunilkumar Bhatt, Raquel Dias, Ali Torkamani

Otol Neurotol. Author manuscript; available in PMC 2024 Feb 12.

Published in final edited form as: Otol Neurotol. 2021 Oct 1; 42(9): e1203–e1212. doi: 10.1097/MAO.0000000000003279

PMCID:: PMC10860185

Abstract Article PDF–837K

Select item 108160873.

KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation

Antonia González-Garrido, Omar López-Ramírez, Abel Cerda-Mireles, Thania Navarrete-Miranda, Aranza Iztanami Flores-Arenas, Arturo Rojo-Domínguez, Leticia Arregui, Pedro Iturralde, Erika Antúnez-Argüelles, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Alessandra Carnevale, Teresa Villarreal-Molina

Int J Mol Sci. 2024 Jan; 25(2): 953. Published online 2024 Jan 12. doi: 10.3390/ijms25020953

PMCID:: PMC10816087

Abstract Article PDF–4.9M

Select item 104227154.

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome

Nongnong Zhao, Zhengyang Yu, Zhejun Cai, Wenai Chen, Xiaopeng He, Zhaoxia Huo, Xiaoping Lin

BMC Cardiovasc Disord. 2023; 23: 399. Published online 2023 Aug 12. doi: 10.1186/s12872-023-03417-2

PMCID:: PMC10422715

Abstract Article PDF–1.7M

Select item 102251235.

Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis

Yongzheng Hu, Yani Yu, Hui Dong, Wei Jiang

PeerJ. 2023; 11: e15437. Published online 2023 May 25. doi: 10.7717/peerj.15437

PMCID:: PMC10225123

Abstract Article PDF–4.2M

Select item 101707116.

The Role of Native Cysteine Residues in the Oligomerization of KCNQ1 Channels

Alison Bates, Rebecca B. Stowe, Elizabeth M. Travis, Lauryn E. Cook, Carole Dabney-Smith, Gary A. Lorigan

Biochem Biophys Res Commun. Author manuscript; available in PMC 2024 Jun 4.

Published in final edited form as: Biochem Biophys Res Commun. 2023 Jun 4; 659: 34–39. Published online 2023 Mar 31. doi: 10.1016/j.bbrc.2023.03.082

PMCID:: PMC10170711

Abstract Article PDF–690K

Select item 98878677.

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro, Bart Loeys

Orphanet J Rare Dis. 2023; 18: 23. Published online 2023 Jan 31. doi: 10.1186/s13023-023-02618-4

PMCID:: PMC9887867

Abstract Article PDF–1.3M

Select item 98653428.

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants

Susanne Rinné, Annemarie Oertli, Claudia Nagel, Philipp Tomsits, Tina Jenewein, Stefan Kääb, Silke Kauferstein, Axel Loewe, Britt Maria Beckmann, Niels Decher

Int J Mol Sci. 2023 Jan; 24(2): 1350. Published online 2023 Jan 10. doi: 10.3390/ijms24021350

PMCID:: PMC9865342

Abstract Article PDF–3.0M

Select item 96836819.

To Modify or Not to Modify: Allele‐Specific Effects of 3'UTR‐KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant‐Negative Mutation

Annika Winbo, Ulla‐Britt Diamant, Johan Persson, Steen M. Jensen, Annika Rydberg

J Am Heart Assoc. 2022 Sep 20; 11(18): e025981. Published online 2022 Sep 14. doi: 10.1161/JAHA.122.025981

PMCID:: PMC9683681

Abstract Article PDF–1.8M

Select item 966119110.

Structural mechanisms for the activation of human cardiac KCNQ1 channel by electro-mechanical coupling enhancers

Demin Ma, Ling Zhong, Zhenzhen Yan, Jing Yao, Yan Zhang, Fan Ye, Yuan Huang, Dongwu Lai, Wei Yang, Panpan Hou, Jiangtao Guo

Proc Natl Acad Sci U S A. 2022 Nov 8; 119(45): e2207067119. Published online 2022 Nov 3. doi: 10.1073/pnas.2207067119

PMCID:: PMC9661191

Abstract Article PDF–7.3M

Select item 933198211.

KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus

Sandra Majcher, Przemysław Ustianowski, Damian Malinowski, Michał Czerewaty, Maciej Tarnowski, Krzysztof Safranow, Violetta Dziedziejko, Andrzej Pawlik

Genes (Basel) 2022 Aug; 13(8): 1315. Published online 2022 Jul 23. doi: 10.3390/genes13081315

PMCID:: PMC9331982

Abstract Article PDF–260K

Select item 928682912.

Celebrities in the heart, strangers in the pancreatic beta cell: Voltage‐gated potassium channels K_v7.1 and K_v11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes

Anniek F. Lubberding, Christian R. Juhl, Emil Z. Skovhøj, Jørgen K. Kanters, Thomas Mandrup‐Poulsen, Signe S. Torekov

Acta Physiol (Oxf) 2022 Mar; 234(3): e13781. Published online 2022 Jan 22. doi: 10.1111/apha.13781

PMCID:: PMC9286829

Abstract Article PDF–1.4M

Select item 924130713.

KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation

Yuanxiu Song, Tianwei Guo, Youxu Jiang, Min Zhu, Hongyue Wang, Wenjing Lu, Mengqi Jiang, Man Qi, Feng Lan, Ming Cui

Stem Cell Res Ther. 2022; 13: 287. Published online 2022 Jun 28. doi: 10.1186/s13287-022-02964-3

PMCID:: PMC9241307

Abstract Article PDF–5.0M

Select item 910201414.

Generation of Isogenic hiPSCs with Targeted Edits at Multiple Intronic SNPs to Study the Effects of the Type 2 Diabetes Associated KCNQ1 Locus in American Indians

Anup K. Nair, Michael Traurig, Jeff R. Sutherland, Yunhua L. Muller, Emma D. Grellinger, Lucas Saporito, Robert G. Nelson, Clifton Bogardus, Leslie J. Baier

Cells. 2022 May; 11(9): 1446. Published online 2022 Apr 25. doi: 10.3390/cells11091446

PMCID:: PMC9102014

Abstract Article PDF–3.4M

Select item 906037715.

Predicting the functional impact of KCNQ1 variants with artificial neural networks

Saksham Phul, Georg Kuenze, Carlos G. Vanoye, Charles R. Sanders, Alfred L. George, Jr., Jens Meiler

PLoS Comput Biol. 2022 Apr; 18(4): e1010038. Published online 2022 Apr 20. doi: 10.1371/journal.pcbi.1010038

PMCID:: PMC9060377

Abstract Article PDF–2.2M

Select item 903757516.

Single cell chromatin accessibility identifies pancreatic islet cell type- and state-specific regulatory programs of diabetes risk

Joshua Chiou, Chun Zeng, Zhang Cheng, Jee Yun Han, Michael Schlichting, Michael Miller, Robert Mendez, Serina Huang, Jinzhao Wang, Yinghui Sui, Allison Deogaygay, Mei-Lin Okino, Yunjiang Qiu, Ying Sun, Parul Kudtarkar, Rongxin Fang, Sebastian Preissl, Maike Sander, David U Gorkin, Kyle J Gaulton

Nat Genet. Author manuscript; available in PMC 2022 Apr 25.

Published in final edited form as: Nat Genet. 2021 Apr; 53(4): 455–466. Published online 2021 Apr 1. doi: 10.1038/s41588-021-00823-0

PMCID:: PMC9037575

Abstract Article PDF–5.9M

Select item 900019717.

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

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

Int J Mol Sci. 2022 Apr; 23(7): 4053. Published online 2022 Apr 6. doi: 10.3390/ijms23074053

PMCID:: PMC9000197

Abstract Article PDF–1.8M

Select item 899149018.

KCNQ1 and lymphovascular invasion are key features in a prognostic classifier for stage II and III colon cancer

Sjoerd H. Uil, Veerle M. H. Coupé, Herman Bril, Gerrit A. Meijer, Remond J. A. Fijneman, Hein B. A. C. Stockmann

BMC Cancer. 2022; 22: 372. Published online 2022 Apr 8. doi: 10.1186/s12885-022-09473-9

PMCID:: PMC8991490

Abstract Article PDF–1.0M

Select item 897723719.

Developmental Changes in Cardiac Expression of KCNQ1 and SCN5A Spliceoforms: Implications for Sudden Unexpected Infant Death

Alexandra F Williams, Audra F Bryan, Kelsey Tomasek, Carlos A Fulmer, Kyle Gregory, Cole Bozeman, Feng Li, Tarek S Absi, Yan Ru Su, Prince J Kannankeril

Heart Rhythm. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Heart Rhythm. 2022 Apr; 19(4): 667–673. Published online 2021 Nov 26. doi: 10.1016/j.hrthm.2021.11.031

PMCID:: PMC8977237

Abstract Article PDF–827K

Select item 887451820.

A Novel Role of Arrhythmia-Related Gene KCNQ1 Revealed by Multi-Omic Analysis: Theragnostic Value and Potential Mechanisms in Lung Adenocarcinoma

Kai-Tun Chang, Hsing-Ju Wu, Chien-Wei Liu, Chia-Ying Li, Hung-Yu Lin

Int J Mol Sci. 2022 Feb; 23(4): 2279. Published online 2022 Feb 18. doi: 10.3390/ijms23042279

PMCID:: PMC8874518

Abstract Article PDF–10M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 1 to 20 of 302

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity