Publications:

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: I44M

PubMed Link: 31131433

Variant Present in the following documents:

• Main text

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYL2: I44M

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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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: I44M

PubMed Link: 28510043

Variant Present in the following documents:

• Main text

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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Bmc Medical Genetics

Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR

Publication Date: 2012-03-19

Variant appearance in text: MYL2: 132T>G; Ile44Met

PubMed Link: 22429680

Variant Present in the following documents:

• Main text
• 1471-2350-13-17.pdf

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