Publications:

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: MYH7: 2135G>T; rs1224554825

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Drug specificity and affinity are encoded in the probability of cryptic pocket opening in myosin motor domains.

Elife

Meller, Artur A; Lotthammer, Jeffrey M JM; Smith, Louis G LG; Novak, Borna B; Lee, Lindsey A LA; Kuhn, Catherine C CC; Greenberg, Lina L; Leinwand, Leslie A LA; Greenberg, Michael J MJ; Bowman, Gregory R GR

Publication Date: 2023-01-27

Variant appearance in text: MYH7: r712l

PubMed Link: 36705568

Variant Present in the following documents:

• elife-83602.pdf

View BVdb publication page

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Genotyping Indian patients with primary cardiomyopathies-analysis of database.

Indian Heart Journal

Vaidya, Vanya V; Dhiman, Ramandeep Singh RS; Mittal, Anupam A; Khullar, Madhu M; Sharma, Maryada M; Bahl, Ajay A

Publication Date: 2022-12-26

Variant appearance in text: MYH7: R712L

PubMed Link: 36581159

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Myosin modulators: emerging approaches for the treatment of cardiomyopathies and heart failure.

The Journal Of Clinical Investigation

Day, Sharlene M SM; Tardiff, Jil C JC; Ostap, E Michael EM

Publication Date: 2022-03-01

Variant appearance in text: MYH7: R712L

PubMed Link: 35229734

Variant Present in the following documents:

• jci-132-148557.pdf

View BVdb publication page

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Cardiac myosin contraction and mechanotransduction in health and disease.

The Journal Of Biological Chemistry

Barrick, Samantha K SK; Greenberg, Michael J MJ

Publication Date: 2021-11

Variant appearance in text: MYH7: R712L

PubMed Link: 34634306

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Hypertrophic cardiomyopathy β-cardiac myosin mutation (P710R) leads to hypercontractility by disrupting super relaxed state.

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

Vander Roest, Alison Schroer AS; Liu, Chao C; Morck, Makenna M MM; Kooiker, Kristina Bezold KB; Jung, Gwanghyun G; Song, Dan D; Dawood, Aminah A; Jhingran, Arnav A; Pardon, Gaspard G; Ranjbarvaziri, Sara S; Fajardo, Giovanni G; Zhao, Mingming M; Campbell, Kenneth S KS; Pruitt, Beth L BL; Spudich, James A JA; Ruppel, Kathleen M KM; Bernstein, Daniel D

Publication Date: 2021-06-15

Variant appearance in text: MYH7: R712L

PubMed Link: 34117120

Variant Present in the following documents:

• pnas.202025030.pdf

View BVdb publication page

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Myosin with hypertrophic cardiac mutation R712L has a decreased working stroke which is rescued by omecamtiv mecarbil.

Elife

Snoberger, Aaron A; Barua, Bipasha B; Atherton, Jennifer L JL; Shuman, Henry H; Forgacs, Eva E; Goldman, Yale E YE; Winkelmann, Donald A DA; Ostap, E Michael EM

Publication Date: 2021-02-19

Variant appearance in text: MYH7: R712L

PubMed Link: 33605878

Variant Present in the following documents:

• Main text
• elife-63691.pdf

View BVdb publication page

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Myosin with hypertrophic cardiac mutation R712L has a decreased working stroke which is rescued by omecamtiv mecarbil.

Elife

Snoberger, Aaron A; Barua, Bipasha B; Atherton, Jennifer L JL; Shuman, Henry H; Forgacs, Eva E; Goldman, Yale E YE; Winkelmann, Donald A DA; Ostap, E Michael EM

Publication Date: 2021-02-19

Variant appearance in text: MYH7: R712L

PubMed Link: 33605878

Variant Present in the following documents:

• Main text
• elife-63691.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: MYH7: R712L

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants.

Frontiers In Physiology

Kraker, Jessica J; Viswanathan, Shiv Kumar SK; Knöll, Ralph R; Sadayappan, Sakthivel S

Publication Date: 2016

Variant appearance in text: MYH7: Arg712Leu

PubMed Link: 27840609

Variant Present in the following documents:

• Main text
• fphys-07-00499.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: CMH1: R712L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.

The Journal Of Biological Chemistry

Kronert, William A WA; Melkani, Girish C GC; Melkani, Anju A; Bernstein, Sanford I SI

Publication Date: 2015-12-04

Variant appearance in text: MYH7: R712L

PubMed Link: 26446785

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structural basis for drug-induced allosteric changes to human β-cardiac myosin motor activity.

Nature Communications

Winkelmann, Donald A DA; Forgacs, Eva E; Miller, Matthew T MT; Stock, Ann M AM

Publication Date: 2015-08-06

Variant appearance in text: MYH7: R712L

PubMed Link: 26246073

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYH7: R712L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Heart (British Cardiac Society)

García-Giustiniani, Diego D; Arad, Michael M; Ortíz-Genga, Martín M; Barriales-Villa, Roberto R; Fernández, Xusto X; Rodríguez-García, Isabel I; Mazzanti, Andrea A; Veira, Elena E; Maneiro, Emilia E; Rebolo, Paula P; Lesende, Iván I; Cazón, Laura L; Freimark, Dov D; Gimeno-Blanes, Juan Ramón JR; Seidman, Christine C; Seidman, Jonathan J; McKenna, William W; Monserrat, Lorenzo L

Publication Date: 2015-07

Variant appearance in text: MYH7: R712L

PubMed Link: 25935763

Variant Present in the following documents:

• Main text
• heartjnl-2014-307205-s1.pdf
• heartjnl-2014-307205.pdf

View BVdb publication page

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