Publications:

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Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant.

Heliyon

Serra, Walter W; Vitetta, Giulia G; Uliana, Vera V; Barocelli, Federico F; Barili, Valeria V; Allegri, Isabella I; Ardissino, Diego D; Gualandi, Francesca F; Percesepe, Antonio A

Publication Date: 2022-12

Variant appearance in text: MYH7: 2605C>G; R869G

PubMed Link: 36593836

Variant Present in the following documents:

• Main text
• main.pdf

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Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences

Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A

Publication Date: 2022-02-16

Variant appearance in text: MYH7: R869G

PubMed Link: 35216312

Variant Present in the following documents:

• Main text
• ijms-23-02195.pdf

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: R869G

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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Exploring the Continuum of Hypertrophic Cardiomyopathy-From DNA to Clinical Expression.

Medicina (Kaunas, Lithuania)

Popa-Fotea, Nicoleta Monica NM; Micheu, Miruna Mihaela MM; Bataila, Vlad V; Scafa-Udriste, Alexandru A; Dorobantu, Lucian L; Scarlatescu, Alina Ioana AI; Zamfir, Diana D; Stoian, Monica M; Onciul, Sebastian S; Dorobantu, Maria M

Publication Date: 2019-06-23

Variant appearance in text: MYH7: R869G

PubMed Link: 31234582

Variant Present in the following documents:

• Main text
• medicina-55-00299.pdf

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Altered force generation and cell-to-cell contractile imbalance in hypertrophic cardiomyopathy.

Pflugers Archiv : European Journal Of Physiology

Kraft, Theresia T; Montag, Judith J

Publication Date: 2019-05

Variant appearance in text: MYH7: R869G

PubMed Link: 30740621

Variant Present in the following documents:

• 424_2019_Article_2260.pdf

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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: MYH7: R869G

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM.

The Journal Of General Physiology

Piroddi, Nicoletta N; Witjas-Paalberends, E Rosalie ER; Ferrara, Claudia C; Ferrantini, Cecilia C; Vitale, Giulia G; Scellini, Beatrice B; Wijnker, Paul J M PJM; Sequiera, Vasco V; Dooijes, Dennis D; Dos Remedios, Cristobal C; Schlossarek, Saskia S; Leung, Man Ching MC; Messer, Andrew A; Ward, Douglas G DG; Biggeri, Annibale A; Tesi, Chiara C; Carrier, Lucie L; Redwood, Charles S CS; Marston, Steven B SB; van der Velden, Jolanda J; Poggesi, Corrado C

Publication Date: 2019-01-07

Variant appearance in text: MYH7: R869G

PubMed Link: 30578328

Variant Present in the following documents:

• JGP_201812160.pdf

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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: R869G

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: MYH7: R869G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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The sarcomeric M-region: a molecular command center for diverse cellular processes.

Biomed Research International

Hu, Li-Yen R LY; Ackermann, Maegen A MA; Kontrogianni-Konstantopoulos, Aikaterini A

Publication Date: 2015

Variant appearance in text: MPD1: R869G

PubMed Link: 25961035

Variant Present in the following documents:

• Main text
• BMRI2015-714197.pdf

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Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies.

Frontiers In Physiology

Månsson, Alf A

Publication Date: 2014

Variant appearance in text: MYH7: R869G

PubMed Link: 25309450

Variant Present in the following documents:

• fphys-05-00350.pdf

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