Publications:

Increased tissue stiffness triggers contractile dysfunction and telomere shortening in dystrophic cardiomyocytes.

Stem Cell Reports

Chang, Alex C Y ACY; Pardon, Gaspard G; Chang, Andrew C H ACH; Wu, Haodi H; Ong, Sang-Ging SG; Eguchi, Asuka A; Ancel, Sara S; Holbrook, Colin C; Ramunas, John J; Ribeiro, Alexandre J S AJS; LaGory, Edward L EL; Wang, Honghui H; Koleckar, Kassie K; Giaccia, Amato A; Mack, David L DL; Childers, Martin K MK; Denning, Chris C; Day, John W JW; Wu, Joseph C JC; Pruitt, Beth L BL; Blau, Helen M HM

Publication Date: 2021-09-14

Variant appearance in text: DMD: 6599C>G

PubMed Link: 34019816

Variant Present in the following documents:

• mmc9.pdf
• mmc1.pdf

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"Betwixt Mine Eye and Heart a League Is Took": The Progress of Induced Pluripotent Stem-Cell-Based Models of Dystrophin-Associated Cardiomyopathy.

International Journal Of Molecular Sciences

Rovina, Davide D; Castiglioni, Elisa E; Niro, Francesco F; Mallia, Sara S; Pompilio, Giulio G; Gowran, Aoife A

Publication Date: 2020-09-23

Variant appearance in text: DMD: 6599C>G

PubMed Link: 32977524

Variant Present in the following documents:

• Main text
• ijms-21-06997.pdf

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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: DMD: S2200*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Telomere shortening is a hallmark of genetic cardiomyopathies.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Chang, Alex C Y ACY; Chang, Andrew C H ACH; Kirillova, Anna A; Sasagawa, Koki K; Su, Willis W; Weber, Gerhard G; Lin, Jue J; Termglinchan, Vittavat V; Karakikes, Ioannis I; Seeger, Timon T; Dainis, Alexandra M AM; Hinson, John T JT; Seidman, Jonathan J; Seidman, Christine E CE; Day, John W JW; Ashley, Euan E; Wu, Joseph C JC; Blau, Helen M HM

Publication Date: 2018-09-11

Variant appearance in text: DMD: 6599C>G

PubMed Link: 30150400

Variant Present in the following documents:

• Main text
• pnas.201714538.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: DMD: 6599C>G; S2200*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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