Publications:

NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: MYH7: 1491G>C

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MYH7: E497D

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: E497D

PubMed Link: 26446785

Variant Present in the following documents:

• Main text

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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: E497D

PubMed Link: 26246073

Variant Present in the following documents:

• Main text
• ncomms8974.pdf

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Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Trends In Cardiovascular Medicine

Buvoli, Massimo M; Hamady, Micah M; Leinwand, Leslie A LA; Knight, Rob R

Publication Date: 2008-05

Variant appearance in text: MYH7: E497D

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

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