Publications:

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Arrhythmogenic cardiomyopathy as a myogenic disease: highlights from cardiomyocytes derived from human induced pluripotent stem cells.

Frontiers In Physiology

Reisqs, J B JB; Moreau, A A; Sleiman, Y Y; Boutjdir, M M; Richard, S S; Chevalier, P P

Publication Date: 2023

Variant appearance in text: DSG2: Gly638Arg

PubMed Link: 37250123

Variant Present in the following documents:

• Main text
• fphys-14-1191965.pdf

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: DSG2: 1912G>A; Gly638Arg

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

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Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Human Mutation

Goudal, Adeline A; Karakachoff, Matilde M; Lindenbaum, Pierre P; Baron, Estelle E; Bonnaud, Stéphanie S; Kyndt, Florence F; Arnaud, Marine M; Minois, Damien D; Bourcereau, Emmanuelle E; Thollet, Aurélie A; Deleuze, Jean-François JF; Genin, Emmanuelle E; Wiart, François F; Pasquié, Jean-Luc JL; Galand, Vincent V; Sacher, Frédéric F; Dina, Christian C; Redon, Richard R; Bezieau, Stéphane S; Schott, Jean-Jacques JJ; Probst, Vincent V; Barc, Julien J

Publication Date: 2022-09

Variant appearance in text: DSG2: 1912G>A; Gly638Arg

PubMed Link: 35819174

Variant Present in the following documents:

• HUMU-43-1333-s001.pdf

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Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy.

Open Heart

Graziosi, Maddalena M; Ditaranto, Raffaello R; Rapezzi, Claudio C; Pasquale, Ferdinando F; Lovato, Luigi L; Leone, Ornella O; Parisi, Vanda V; Potena, Luciano L; Ferrara, Valentina V; Minnucci, Matteo M; Caponetti, Angelo Giuseppe AG; Chiti, Chiara C; Ferlini, Alessandra A; Gualandi, Francesca F; Rossi, Cesare C; Berardini, Alessandra A; Tini, Giacomo G; Bertini, Matteo M; Ziacchi, Matteo M; Biffi, Mauro M; Galie, Nazzareno N; Olivotto, Iacopo I; Biagini, Elena E

Publication Date: 2022-04

Variant appearance in text: DSG2: 1912G>A; Gly638Arg

PubMed Link: 35444050

Variant Present in the following documents:

• openhrt-2021-001914supp001.pdf

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Altered Electrical, Biomolecular, and Immunologic Phenotypes in a Novel Patient-Derived Stem Cell Model of Desmoglein-2 Mutant ARVC.

Journal Of Clinical Medicine

Hawthorne, Robert N RN; Blazeski, Adriana A; Lowenthal, Justin J; Kannan, Suraj S; Teuben, Roald R; DiSilvestre, Deborah D; Morrissette-McAlmon, Justin J; Saffitz, Jeffrey E JE; Boheler, Kenneth R KR; James, Cynthia A CA; Chelko, Stephen P SP; Tomaselli, Gordon G; Tung, Leslie L

Publication Date: 2021-07-10

Variant appearance in text: DSG2: G638R

PubMed Link: 34300226

Variant Present in the following documents:

• Main text
• jcm-10-03061.pdf

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Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

Journal Of Clinical Medicine

My, Ilaria I; Di Pasquale, Elisa E

Publication Date: 2021-03-09

Variant appearance in text: DSG2: G638R

PubMed Link: 33803477

Variant Present in the following documents:

• Main text
• jcm-10-01149.pdf

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Mechanotransduction and Adrenergic Stimulation in Arrhythmogenic Cardiomyopathy: An Overview of in vitro and in vivo Models.

Frontiers In Physiology

Beffagna, Giorgia G; Sommariva, Elena E; Bellin, Milena M

Publication Date: 2020

Variant appearance in text: DSG2: G638R

PubMed Link: 33281612

Variant Present in the following documents:

• Main text

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: DSG2: G638R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Nucleoside Diphosphate Kinase B Contributes to Arrhythmogenesis in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with Arrhythmogenic Right Ventricular Cardiomyopathy.

Journal Of Clinical Medicine

Buljubasic, Fanis F; El-Battrawy, Ibrahim I; Lan, Huan H; Lomada, Santosh K SK; Chatterjee, Anupriya A; Zhao, Zhihan Z; Li, Xin X; Zhong, Rujia R; Xu, Qiang Q; Huang, Mengying M; Liao, Zhenxing Z; Lang, Siegfried S; Cyganek, Lukas L; Zhou, Xiaobo X; Wieland, Thomas T; Borggrefe, Martin M; Akin, Ibrahim I

Publication Date: 2020-02-10

Variant appearance in text: DSG2: Gly638Arg

PubMed Link: 32050722

Variant Present in the following documents:

• Main text
• jcm-09-00486.pdf

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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences

Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H

Publication Date: 2019-09-06

Variant appearance in text: DSG2: G638R

PubMed Link: 31489928

Variant Present in the following documents:

• Main text
• ijms-20-04381.pdf

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: rs201564919

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

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: rs201564919

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

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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: DSG2: 1912G>A; Gly638Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: N/A

PubMed Link: 28539123

Variant Present in the following documents:

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: DSG2: 1912G>A; G638R; rs201564919

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

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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: DSG2: 1912G>A; G638R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Mechanistic basis of desmosome-targeted diseases.

Journal Of Molecular Biology

Al-Jassar, Caezar C; Bikker, Hennie H; Overduin, Michael M; Chidgey, Martyn M

Publication Date: 2013-11-01

Variant appearance in text: DSG2: G638R

PubMed Link: 23911551

Variant Present in the following documents:

• Main text
• main.pdf

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Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.

Heart Rhythm

Bauce, Barbara B; Rampazzo, Alessandra A; Basso, Cristina C; Mazzotti, Elisa E; Rigato, Ilaria I; Steriotis, Alexandros A; Beffagna, Giorgia G; Lorenzon, Alessandra A; De Bortoli, Marzia M; Pilichou, Kalliopi K; Marra, Martina Perazzolo MP; Corbetti, Francesco F; Daliento, Luciano L; Iliceto, Sabino S; Corrado, Domenico D; Thiene, Gaetano G; Nava, Andrea A

Publication Date: 2011-11

Variant appearance in text:

PubMed Link: 21723241

Variant Present in the following documents:

• Main text

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The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.

European Journal Of Human Genetics : Ejhg

De Bortoli, Marzia M; Beffagna, Giorgia G; Bauce, Barbara B; Lorenzon, Alessandra A; Smaniotto, Gessica G; Rigato, Ilaria I; Calore, Martina M; Li Mura, Ilena E A IE; Basso, Cristina C; Thiene, Gaetano G; Lanfranchi, Gerolamo G; Danieli, Gian Antonio GA; Nava, Andrea A; Rampazzo, Alessandra A

Publication Date: 2010-07

Variant appearance in text: DSG2: 1912G>A; G638R

PubMed Link: 20197793

Variant Present in the following documents:

• Main text

View BVdb publication page

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