Publications:

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Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H

Publication Date: 2023-06-19

Variant appearance in text: KCNQ1: A287T

PubMed Link: 37122211

Variant Present in the following documents:

• Main text
• rstb.2022.0165.pdf

View BVdb publication page

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 859G>A; Ala287Thr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 859G>A; Ala287Thr

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: KCNQ1: A287T; rs765665086

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: KCNQ1: A287T; rs765665086

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Nature Communications

Cordo', Valentina V; Meijer, Mariska T MT; Hagelaar, Rico R; de Goeij-de Haas, Richard R RR; Poort, Vera M VM; Henneman, Alex A AA; Piersma, Sander R SR; Pham, Thang V TV; Oshima, Koichi K; Ferrando, Adolfo A AA; Zaman, Guido J R GJR; Jimenez, Connie R CR; Meijerink, Jules P P JPP

Publication Date: 2022-02-25

Variant appearance in text: KCNQ1: A287T

PubMed Link: 35217681

Variant Present in the following documents:

• 41467_2022_28682_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

European Heart Journal

Walsh, Roddy R; Adler, Arnon A; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Bikker, Hennie H; Amenta, Simona S; Feilotter, Harriet H; Nannenberg, Eline A EA; Mazzarotto, Francesco F; Trevisan, Valentina V; Garcia, John J; Hershberger, Ray E RE; Perez, Marco V MV; Sturm, Amy C AC; Ware, James S JS; Zareba, Wojciech W; Novelli, Valeria V; Wilde, Arthur A M AAM; Gollob, Michael H MH

Publication Date: 2022-04-14

Variant appearance in text: KCNQ1: Ala287Thr

PubMed Link: 34557911

Variant Present in the following documents:

• Main text
• ehab687.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KCNQ1: A287T

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).

Heartrhythm Case Reports

Rothenberg, Ina I; Piccini, Ilaria I; Wrobel, Eva E; Stallmeyer, Birgit B; Müller, Jovanca J; Greber, Boris B; Strutz-Seebohm, Nathalie N; Schulze-Bahr, Eric E; Schmitt, Nicole N; Seebohm, Guiscard G

Publication Date: 2016-11

Variant appearance in text: KCNQ1: A287T

PubMed Link: 28491751

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: KCNQ1: 859G>A; A287T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

Journal Of Cardiovascular Translational Research

Ware, James S JS; John, Shibu S; Roberts, Angharad M AM; Buchan, Rachel R; Gong, Sungsam S; Peters, Nicholas S NS; Robinson, David O DO; Lucassen, Anneke A; Behr, Elijah R ER; Cook, Stuart A SA

Publication Date: 2013-02

Variant appearance in text: KCNQ1: 859G>A

PubMed Link: 22956155

Variant Present in the following documents:

• Main text
• 12265_2012_Article_9401.pdf

View BVdb publication page

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