Publications:

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Cardiac myosin super relaxation (SRX): a perspective on fundamental biology, human disease and therapeutics.

Biology Open

Schmid, Manuel M; Toepfer, Christopher N CN

Publication Date: 2021-02-15

Variant appearance in text: MYL2: F18L

PubMed Link: 33589442

Variant Present in the following documents:

• Main text
• biolopen-10-057646.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: MYL2: F18L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: MYL2: F18L

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 4

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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: MYL2: F18L

PubMed Link: 31131433

Variant Present in the following documents:

• Main text

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Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.

Biophysical Reviews

Yadav, Sunil S; Szczesna-Cordary, Danuta D

Publication Date: 2017-02

Variant appearance in text: MYL2: F18L

PubMed Link: 28510043

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: CMH10: F18L

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: MYL2: F18L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Functions of myosin light chain-2 (MYL2) in cardiac muscle and disease.

Gene

Sheikh, Farah F; Lyon, Robert C RC; Chen, Ju J

Publication Date: 2015-09-10

Variant appearance in text: MYL2: F18L

PubMed Link: 26074085

Variant Present in the following documents:

• Main text

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MT-CYB mutations in hypertrophic cardiomyopathy.

Molecular Genetics & Genomic Medicine

Hagen, Christian M CM; Aidt, Frederik H FH; Havndrup, Ole O; Hedley, Paula L PL; Jespersgaard, Cathrine C; Jensen, Morten M; Kanters, Jørgen K JK; Moolman-Smook, Johanna C JC; Møller, Daniel V DV; Bundgaard, Henning H; Christiansen, Michael M

Publication Date: 2013-05

Variant appearance in text: MYL2: F18L

PubMed Link: 24498601

Variant Present in the following documents:

• Main text

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NECTAR: a database of codon-centric missense variant annotations.

Nucleic Acids Research

Gong, Sungsam S; Ware, James S JS; Walsh, Roddy R; Cook, Stuart A SA

Publication Date: 2014-01

Variant appearance in text: MYL2: 54C>G; Phe18Leu

PubMed Link: 24297257

Variant Present in the following documents:

• Main text
• gkt1245.pdf

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Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population.

Plos One

Hagen, Christian M CM; Aidt, Frederik H FH; Hedley, Paula L PL; Jensen, Morten K MK; Havndrup, Ole O; Kanters, Jørgen K JK; Moolman-Smook, Johanna C JC; Larsen, Severin O SO; Bundgaard, Henning H; Christiansen, Michael M

Publication Date: 2013

Variant appearance in text: MYL2: Phe18Leu

PubMed Link: 23940792

Variant Present in the following documents:

• Main text
• pone.0071904.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: MYL2: F18L

PubMed Link: 21415409

Variant Present in the following documents:

• Main text

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