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: Gly844Asp

PubMed Link: 35205305

Variant Present in the following documents:

• Main text
• genes-13-00258.pdf

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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: G844D; rs200038418

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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: G844D

PubMed Link: 35056097

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-00040.pdf

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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: G844D

PubMed Link: 35056097

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-00040.pdf

View BVdb publication page

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Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Plos One

Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S

Publication Date: 2021

Variant appearance in text: TRPM4: 2531G>A

PubMed Link: 34843512

Variant Present in the following documents:

• pone.0259185.s010.xlsx, sheet 1

View BVdb publication page

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Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Plos One

Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S

Publication Date: 2021

Variant appearance in text: TRPM4: 2531G>A

PubMed Link: 34843512

Variant Present in the following documents:

• pone.0259185.s010.xlsx, sheet 1

View BVdb publication page

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Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine

Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA

Publication Date: 2021-07-16

Variant appearance in text: TRPM4: 2531G>A

PubMed Link: 34271981

Variant Present in the following documents:

• 13073_2021_926_MOESM4_ESM.xlsx, sheet 3

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: 2531G>A; G844D

PubMed Link: 33381229

Variant Present in the following documents:

• Main text
• CDTP2020-6615038.pdf

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Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Stem Cell Reports

Hildebrandt, Matthew R MR; Reuter, Miriam S MS; Wei, Wei W; Tayebi, Naeimeh N; Liu, Jiajie J; Sharmin, Sazia S; Mulder, Jaap J; Lesperance, L Stephen LS; Brauer, Patrick M PM; Mok, Rebecca S F RSF; Kinnear, Caroline C; Piekna, Alina A; Romm, Asli A; Howe, Jennifer J; Pasceri, Peter P; Meng, Guoliang G; Rozycki, Matthew M; Rodrigues, Deivid C DC; Martinez, Elisa C EC; Szego, Michael J MJ; Zúñiga-Pflücker, Juan C JC; Anderson, Michele K MK; Prescott, Steven A SA; Rosenblum, Norman D ND; Kamath, Binita M BM; Mital, Seema S; Scherer, Stephen W SW; Ellis, James J

Publication Date: 2019-12-10

Variant appearance in text: TRPM4: 2531G>A; Gly844Asp

PubMed Link: 31813827

Variant Present in the following documents:

• mmc1.pdf
• mmc4.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: TRPM4: G844D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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: G844D

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 26

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: 2531G>A; Gly844Asp; rs200038418

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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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TRPM4: G844D; rs200038418

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.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: 2531G>A; Gly844Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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TRPM4 non-selective cation channel variants in long QT syndrome.

Bmc Medical Genetics

Hof, Thomas T; Liu, Hui H; Sallé, Laurent L; Schott, Jean-Jacques JJ; Ducreux, Corinne C; Millat, Gilles G; Chevalier, Philippe P; Probst, Vincent V; Guinamard, Romain R; Bouvagnet, Patrice P

Publication Date: 2017-03-18

Variant appearance in text: TRPM4: G844D

PubMed Link: 28315637

Variant Present in the following documents:

• Main text
• 12881_2017_Article_397.pdf

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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: 2531G>A; G844D

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: rs200038418

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.

Plos One

Celestino-Soper, Patrícia B S PB; Doytchinova, Anisiia A; Steiner, Hillel A HA; Uradu, Andrea A; Lynnes, Ty C TC; Groh, William J WJ; Miller, John M JM; Lin, Hai H; Gao, Hongyu H; Wang, Zhiping Z; Liu, Yunlong Y; Chen, Peng-Sheng PS; Vatta, Matteo M

Publication Date: 2015

Variant appearance in text: TRPM4: 2531G>A; G844D; rs200038418

PubMed Link: 26636822

Variant Present in the following documents:

• Main text
• pone.0143588.pdf

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: Gly844Asp

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: G844D

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: G844D

PubMed Link: 25287864

Variant Present in the following documents:

• Main text

View BVdb publication page

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Casein kinase-mediated phosphorylation of serine 839 is necessary for basolateral localization of the Ca²⁺-activated non-selective cation channel TRPM4.

Pflugers Archiv : European Journal Of Physiology

Cerda, Oscar O; Cáceres, Mónica M; Park, Kang-Sik KS; Leiva-Salcedo, Elías E; Romero, Aníbal A; Varela, Diego D; Trimmer, James S JS; Stutzin, Andrés A

Publication Date: 2015-08

Variant appearance in text: TRPM4: G844D

PubMed Link: 25231975

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: G844D

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

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: 2531G>A; G844D

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: Gly844Asp

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: Gly844Asp

PubMed Link: 21173080

Variant Present in the following documents:

• Main text

View BVdb publication page

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