Publications:

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Prospects for remodeling the hypertrophic heart with myosin modulators.

Frontiers In Cardiovascular Medicine

Sewanan, Lorenzo R LR; Shimada, Yuichi J YJ

Publication Date: 2022

Variant appearance in text: 225: R403Q

PubMed Link: 36330009

Variant Present in the following documents:

• Main text
• fcvm-09-1051564.pdf

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The titin N2B and N2A regions: biomechanical and metabolic signaling hubs in cross-striated muscles.

Biophysical Reviews

van der Pijl, Robbert J RJ; Domenighetti, Andrea A AA; Sheikh, Farah F; Ehler, Elisabeth E; Ottenheijm, Coen A C CAC; Lange, Stephan S

Publication Date: 2021-10

Variant appearance in text: 225: R403Q

PubMed Link: 34745373

Variant Present in the following documents:

• 12551_2021_Article_836.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: 225: R403Q

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.

Nature Communications

Adalsteinsson, Viktor A VA; Ha, Gavin G; Freeman, Samuel S SS; Choudhury, Atish D AD; Stover, Daniel G DG; Parsons, Heather A HA; Gydush, Gregory G; Reed, Sarah C SC; Rotem, Denisse D; Rhoades, Justin J; Loginov, Denis D; Livitz, Dimitri D; Rosebrock, Daniel D; Leshchiner, Ignaty I; Kim, Jaegil J; Stewart, Chip C; Rosenberg, Mara M; Francis, Joshua M JM; Zhang, Cheng-Zhong CZ; Cohen, Ofir O; Oh, Coyin C; Ding, Huiming H; Polak, Paz P; Lloyd, Max M; Mahmud, Sairah S; Helvie, Karla K; Merrill, Margaret S MS; Santiago, Rebecca A RA; O'Connor, Edward P EP; Jeong, Seong H SH; Leeson, Rachel R; Barry, Rachel M RM; Kramkowski, Joseph F JF; Zhang, Zhenwei Z; Polacek, Laura L; Lohr, Jens G JG; Schleicher, Molly M; Lipscomb, Emily E; Saltzman, Andrea A; Oliver, Nelly M NM; Marini, Lori L; Waks, Adrienne G AG; Harshman, Lauren C LC; Tolaney, Sara M SM; Van Allen, Eliezer M EM; Winer, Eric P EP; Lin, Nancy U NU; Nakabayashi, Mari M; Taplin, Mary-Ellen ME; Johannessen, Cory M CM; Garraway, Levi A LA; Golub, Todd R TR; Boehm, Jesse S JS; Wagle, Nikhil N; Getz, Gad G; Love, J Christopher JC; Meyerson, Matthew M

Publication Date: 2017-11-06

Variant appearance in text: 225: R403Q

PubMed Link: 29109393

Variant Present in the following documents:

• 41467_2017_965_MOESM7_ESM.xlsx, sheet 6

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: 225: R403Q

PubMed Link: 26388441

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

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Poorly understood aspects of striated muscle contraction.

Biomed Research International

Månsson, Alf A; Rassier, Dilson D; Tsiavaliaris, Georgios G

Publication Date: 2015

Variant appearance in text: 225: R403Q

PubMed Link: 25961006

Variant Present in the following documents:

• BMRI2015-245154.pdf

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: 225: Arg403Gln

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: 225: R403Q

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils.

The Journal Of Physiology

Belus, Alexandra A; Piroddi, Nicoletta N; Scellini, Beatrice B; Tesi, Chiara C; D'Amati, Giulia G; Girolami, Francesca F; Yacoub, Magdi M; Cecchi, Franco F; Olivotto, Iacopo I; Poggesi, Corrado C

Publication Date: 2008-08-01

Variant appearance in text: 225: R403Q

PubMed Link: 18565996

Variant Present in the following documents:

• Main text

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A mutant heterodimeric myosin with one inactive head generates maximal displacement.

The Journal Of Cell Biology

Kad, Neil M NM; Rovner, Arthur S AS; Fagnant, Patricia M PM; Joel, Peteranne B PB; Kennedy, Guy G GG; Patlak, Joseph B JB; Warshaw, David M DM; Trybus, Kathleen M KM

Publication Date: 2003-08-04

Variant appearance in text: 225: R403Q

PubMed Link: 12900396

Variant Present in the following documents:

• 200304023.pdf

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On predictors of sudden cardiac death in hypertrophic cardiomyopathy.

Journal Of The American College Of Cardiology

Marian, Ali J AJ

Publication Date: 2003-03-19

Variant appearance in text: 225: R403Q

PubMed Link: 12651047

Variant Present in the following documents:

• Main text

View BVdb publication page

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