Publications:

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Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Osborn, Daniel Peter Sayer DPS; Emrahi, Leila L; Clayton, Joshua J; Tabrizi, Mehrnoush Toufan MT; Wan, Alex Yui Bong AYB; Maroofian, Reza R; Yazdchi, Mohammad M; Garcia, Michael Leon Enrique MLE; Galehdari, Hamid H; Hesse, Camila C; Shariati, Gholamreza G; Mazaheri, Neda N; Sedaghat, Alireza A; Goullée, Hayley H; Laing, Nigel N; Jamshidi, Yalda Y; Tajsharghi, Homa H

Publication Date: 2021-04

Variant appearance in text: MYL3: Glu56Gly

PubMed Link: 33288880

Variant Present in the following documents:

• Main text
• 41436_2020_Article_1028.pdf

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Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies.

International Journal Of Molecular Sciences

Tsukamoto, Osamu O

Publication Date: 2019-12-28

Variant appearance in text: MYL3: E56G

PubMed Link: 31905684

Variant Present in the following documents:

• Main text
• ijms-21-00226.pdf

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Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Journal Of Muscle Research And Cell Motility

Sitbon, Yoel H YH; Yadav, Sunil S; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D

Publication Date: 2020-12

Variant appearance in text: MYL3: E56G

PubMed Link: 31131433

Variant Present in the following documents:

• Main text

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Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Pflugers Archiv : European Journal Of Physiology

Yadav, Sunil S; Sitbon, Yoel H YH; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D

Publication Date: 2019-05

Variant appearance in text: MYL3: Glu56Gly

PubMed Link: 30706179

Variant Present in the following documents:

• Main text

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Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.

Circulation

Ma, Ning N; Zhang, Joe Z JZ; Itzhaki, Ilanit I; Zhang, Sophia L SL; Chen, Haodong H; Haddad, Francois F; Kitani, Tomoya T; Wilson, Kitchener D KD; Tian, Lei L; Shrestha, Rajani R; Wu, Haodi H; Lam, Chi Keung CK; Sayed, Nazish N; Wu, Joseph C JC

Publication Date: 2018-12-04

Variant appearance in text: MYL3: E56G

PubMed Link: 29914921

Variant Present in the following documents:

• Main text

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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: CMH8: E56G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: MYL3: E56G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.

Biochemistry Research International

Andersen, Paal Skytt PS; Hedley, Paula Louise PL; Page, Stephen P SP; Syrris, Petros P; Moolman-Smook, Johanna Catharina JC; McKenna, William John WJ; Elliott, Perry Mark PM; Christiansen, Michael M

Publication Date: 2012

Variant appearance in text: MYL3: E56G

PubMed Link: 22957257

Variant Present in the following documents:

• Main text
• BCRI2012-685108.pdf

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In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Circulation Research

Harris, Samantha P SP; Lyons, Ross G RG; Bezold, Kristina L KL

Publication Date: 2011-03-18

Variant appearance in text: VLC1: E56G

PubMed Link: 21415409

Variant Present in the following documents:

• Main text

View BVdb publication page

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