Publications:

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The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.

Genes

Palladino, Alberto A; Papa, Andrea Antonio AA; Petillo, Roberta R; Scutifero, Marianna M; Morra, Salvatore S; Passamano, Luigia L; Nigro, Vincenzo V; Politano, Luisa L

Publication Date: 2022-01-28

Variant appearance in text: TRPM4: Ala432Thr

PubMed Link: 35205305

Variant Present in the following documents:

• genes-13-00258.pdf

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: TRPM4: 1294G>A; Ala432Thr; rs201907325

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3
• mmc5.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: TRPM4: A432T; rs201907325

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Pharmacological Modulation and (Patho)Physiological Roles of TRPM4 Channel-Part 2: TRPM4 in Health and Disease.

Pharmaceuticals (Basel, Switzerland)

Dienes, Csaba C; Kovács, Zsigmond Máté ZM; Hézső, Tamás T; Almássy, János J; Magyar, János J; Bányász, Tamás T; Nánási, Péter P PP; Horváth, Balázs B; Szentandrássy, Norbert N

Publication Date: 2021-12-28

Variant appearance in text: TRPM4: A432T

PubMed Link: 35056097

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-00040.pdf

View BVdb publication page

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Pharmacological Modulation and (Patho)Physiological Roles of TRPM4 Channel-Part 2: TRPM4 in Health and Disease.

Pharmaceuticals (Basel, Switzerland)

Dienes, Csaba C; Kovács, Zsigmond Máté ZM; Hézső, Tamás T; Almássy, János J; Magyar, János J; Bányász, Tamás T; Nánási, Péter P PP; Horváth, Balázs B; Szentandrássy, Norbert N

Publication Date: 2021-12-28

Variant appearance in text: TRPM4: A432T

PubMed Link: 35056097

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-00040.pdf

View BVdb publication page

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Electrophysiological Effects of the Transient Receptor Potential Melastatin 4 Channel Inhibitor (4-Chloro-2-(2-chlorophenoxy)acetamido) Benzoic Acid (CBA) in Canine Left Ventricular Cardiomyocytes.

International Journal Of Molecular Sciences

Dienes, Csaba C; Hézső, Tamás T; Kiss, Dénes Zsolt DZ; Baranyai, Dóra D; Kovács, Zsigmond Máté ZM; Szabó, László L; Magyar, János J; Bányász, Tamás T; Nánási, Péter P PP; Horváth, Balázs B; Gönczi, Mónika M; Szentandrássy, Norbert N

Publication Date: 2021-08-31

Variant appearance in text: TRPM4: A432T

PubMed Link: 34502410

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inherited Cardiac Arrhythmia Syndromes: Focus on Molecular Mechanisms Underlying TRPM4 Channelopathies.

Cardiovascular Therapeutics

Amarouch, Mohamed-Yassine MY; El Hilaly, Jaouad J

Publication Date: 2020

Variant appearance in text: TRPM4: 1294G>A; A432T

PubMed Link: 33381229

Variant Present in the following documents:

• Main text
• CDTP2020-6615038.pdf

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: rs201907325

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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AAV9-Mediated Overexpression of TRPM4 Increases the Incidence of Stress-Induced Ventricular Arrhythmias in Mice.

Frontiers In Physiology

Pironet, Andy A; Syam, Ninda N; Vandewiele, Frone F; Van den Haute, Chris C; Kerselaers, Sara S; Pinto, Silvia S; Vande Velde, Greetje G; Gijsbers, Rik R; Vennekens, Rudi R

Publication Date: 2019

Variant appearance in text: TRPM4: A432T

PubMed Link: 31316392

Variant Present in the following documents:

• Main text
• fphys-10-00802.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: TRPM4: A432T

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 46

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: TRPM4: 1294G>A; Ala432Thr; rs201907325

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: TRPM4: A432T

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 3
• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2

View BVdb publication page

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Identification of potent and selective small molecule inhibitors of the cation channel TRPM4.

British Journal Of Pharmacology

Ozhathil, Lijo Cherian LC; Delalande, Clémence C; Bianchi, Beatrice B; Nemeth, Gabor G; Kappel, Sven S; Thomet, Urs U; Ross-Kaschitza, Daniela D; Simonin, Céline C; Rubin, Matthias M; Gertsch, Jürg J; Lochner, Martin M; Peinelt, Christine C; Reymond, Jean-Louis JL; Abriel, Hugues H

Publication Date: 2018-06

Variant appearance in text: TRPM4: A432T

PubMed Link: 29579323

Variant Present in the following documents:

• Main text
• BPH-175-2504.pdf
• BPH-175-2504-s001.pdf

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs201907325

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: TRPM4: 1294G>A; A432T; rs201907325

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TRPM4: 1294G>A; Ala432Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: TRPM4: 1294G>A; A432T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: TRPM4: A432T

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block.

Journal Of The American Heart Association

Syam, Ninda N; Chatel, Stéphanie S; Ozhathil, Lijo Cherian LC; Sottas, Valentin V; Rougier, Jean-Sébastien JS; Baruteau, Alban A; Baron, Estelle E; Amarouch, Mohamed-Yassine MY; Daumy, Xavier X; Probst, Vincent V; Schott, Jean-Jacques JJ; Abriel, Hugues H

Publication Date: 2016-05-20

Variant appearance in text: TRPM4: 1294G>A; A432T

PubMed Link: 27207958

Variant Present in the following documents:

• Main text
• JAH3-5-e001625.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs201907325

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.

European Journal Of Human Genetics : Ejhg

Hertz, Christin Loeth CL; Christiansen, Sofie Lindgren SL; Larsen, Maiken Kudahl MK; Dahl, Morten M; Ferrero-Miliani, Laura L; Weeke, Peter Ejvin PE; Pedersen, Oluf O; Hansen, Torben T; Grarup, Niels N; Ottesen, Gyda Lolk GL; Frank-Hansen, Rune R; Banner, Jytte J; Morling, Niels N

Publication Date: 2016-06

Variant appearance in text: TRPM4: 1294G>A; A432T

PubMed Link: 26350513

Variant Present in the following documents:

• Main text

View BVdb publication page

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Physiological functions of the TRPM4 channels via protein interactions.

Bmb Reports

Cho, Chang-Hoon CH; Lee, Young-Sun YS; Kim, Eunju E; Hwang, Eun Mi EM; Park, Jae-Yong JY

Publication Date: 2015-01

Variant appearance in text: TRPM4: Ala432Thr

PubMed Link: 25441424

Variant Present in the following documents:

• Main text
• BMB-48-1.pdf

View BVdb publication page

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Role of TRP channels in the cardiovascular system.

American Journal Of Physiology. Heart And Circulatory Physiology

Yue, Zhichao Z; Xie, Jia J; Yu, Albert S AS; Stock, Jonathan J; Du, Jianyang J; Yue, Lixia L

Publication Date: 2015-02-01

Variant appearance in text: TRPM4: A432T

PubMed Link: 25416190

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neuronal SUMOylation: mechanisms, physiology, and roles in neuronal dysfunction.

Physiological Reviews

Henley, Jeremy M JM; Craig, Tim J TJ; Wilkinson, Kevin A KA

Publication Date: 2014-10

Variant appearance in text: TRPM4: A432T

PubMed Link: 25287864

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: TRPM4: A432T

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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The genetic component of Brugada syndrome.

Frontiers In Physiology

Nielsen, Morten W MW; Holst, Anders G AG; Olesen, Søren-Peter SP; Olesen, Morten S MS

Publication Date: 2013

Variant appearance in text: TRPM4: A432T

PubMed Link: 23874304

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel.

Plos One

Liu, Hui H; Chatel, Stéphanie S; Simard, Christophe C; Syam, Ninda N; Salle, Laurent L; Probst, Vincent V; Morel, Julie J; Millat, Gilles G; Lopez, Michel M; Abriel, Hugues H; Schott, Jean-Jacques JJ; Guinamard, Romain R; Bouvagnet, Patrice P

Publication Date: 2013

Variant appearance in text: TRPM4: A432T

PubMed Link: 23382873

Variant Present in the following documents:

• Main text
• pone.0054131.pdf

View BVdb publication page

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Cardiac function and disease: emerging role of small ubiquitin-related modifier.

Wiley Interdisciplinary Reviews. Systems Biology And Medicine

Wang, Jun J

Publication Date: 2011

Variant appearance in text: TRPM4: Ala432Thr

PubMed Link: 21197655

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging concepts for the role of TRP channels in the cardiovascular system.

The Journal Of Physiology

Vennekens, Rudi R

Publication Date: 2011-04-01

Variant appearance in text: TRPM4: Ala432Thr

PubMed Link: 21173080

Variant Present in the following documents:

• Main text

View BVdb publication page

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