Publications:

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Advances in symptomatic therapy for left ventricular non-compaction in children.

Frontiers In Pediatrics

Li, Dong D; Wang, Ce C

Publication Date: 2023

Variant appearance in text: MYH7: R723G

PubMed Link: 37215603

Variant Present in the following documents:

• fped-11-1147362.pdf

View BVdb publication page

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Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology

Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J

Publication Date: 2023-04-18

Variant appearance in text: MYH7: R723G

PubMed Link: 37131793

Variant Present in the following documents:

• Main text
• nihpp-2023.04.15.536999v1.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MYH7: 2167C>G; Arg723Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Effects of the Expressions and Variants of the CAST Gene on the Fatty Acid Composition of the Longissimus Thoracis Muscle of Grazing Sonid Sheep.

Animals : An Open Access Journal From Mdpi

Guo, Xin X; Li, Terigele T; Lu, Datong D; Yamada, Takahisa T; Li, Xihe X; Bao, Siqin S; Liu, Jiasen J; Borjigin, Gerelt G; Cang, Ming M; Tong, Bin B

Publication Date: 2023-01-04

Variant appearance in text: MYH7: R723G

PubMed Link: 36670735

Variant Present in the following documents:

• animals-13-00195.pdf

View BVdb publication page

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Computational analysis of ventricular mechanics in hypertrophic cardiomyopathy patients.

Scientific Reports

Mojumder, Joy J; Fan, Lei L; Nguyen, Thuy T; Campbell, Kenneth S KS; Wenk, Jonathan F JF; Guccione, Julius M JM; Abraham, Theodore T; Lee, Lik Chuan LC

Publication Date: 2023-01-18

Variant appearance in text: MYH7: R723G

PubMed Link: 36653468

Variant Present in the following documents:

• 41598_2023_Article_28037.pdf

View BVdb publication page

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Distinct Mechanisms for Increased Cardiac Contraction Through Selective Alteration of Either Myosin or Troponin Activity.

Jacc. Basic To Translational Science

Singh, Rohit R RR; Slater, Rebecca E RE; Wang, Jinghong J; Wang, Chen C; Guo, Qi Q; Motani, Alykhan S AS; Hartman, James J JJ; Sadayappan, Sakthivel S; Ason, Brandon L BL

Publication Date: 2022-10

Variant appearance in text: MYH7: R723G

PubMed Link: 36337919

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology

Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM

Publication Date: 2022

Variant appearance in text: MYH7: Arg723Gly

PubMed Link: 36225299

Variant Present in the following documents:

• Main text
• fphys-13-975076.pdf

View BVdb publication page

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Transcriptional bursts and heterogeneity among cardiomyocytes in hypertrophic cardiomyopathy.

Frontiers In Cardiovascular Medicine

Burkart, Valentin V; Kowalski, Kathrin K; Aldag-Niebling, David D; Beck, Julia J; Frick, Dirk Alexander DA; Holler, Tim T; Radocaj, Ante A; Piep, Birgit B; Zeug, Andre A; Hilfiker-Kleiner, Denise D; Dos Remedios, Cristobal G CG; van der Velden, Jolanda J; Montag, Judith J; Kraft, Theresia T

Publication Date: 2022

Variant appearance in text: MYH7: R723G

PubMed Link: 36082122

Variant Present in the following documents:

• fcvm-09-987889.pdf

View BVdb publication page

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Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.

Frontiers In Cell And Developmental Biology

Hsieh, Jeanne J; Becklin, Kelsie L KL; Givens, Sophie S; Komosa, Elizabeth R ER; Lloréns, Juan E Abrahante JEA; Kamdar, Forum F; Moriarity, Branden S BS; Webber, Beau R BR; Singh, Bhairab N BN; Ogle, Brenda M BM

Publication Date: 2022

Variant appearance in text: MYH7: 2167C>G; R723G

PubMed Link: 35784482

Variant Present in the following documents:

• Main text
• DataSheet1.pdf
• fcell-10-894635.pdf

View BVdb publication page

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Circulating miR-499a-5p Is a Potential Biomarker of MYH7-Associated Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences

Baulina, Natalia N; Pisklova, Maria M; Kiselev, Ivan I; Chumakova, Olga O; Zateyshchikov, Dmitry D; Favorova, Olga O

Publication Date: 2022-03-30

Variant appearance in text: MYH7: R723G

PubMed Link: 35409153

Variant Present in the following documents:

• Main text
• ijms-23-03791.pdf

View BVdb publication page

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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: R723G

PubMed Link: 35216312

Variant Present in the following documents:

• Main text
• ijms-23-02195.pdf

View BVdb publication page

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Myofibre Hyper-Contractility in Horses Expressing the Myosin Heavy Chain Myopathy Mutation, MYH1.

Cells

Ochala, Julien J; Finno, Carrie J CJ; Valberg, Stephanie J SJ

Publication Date: 2021-12-06

Variant appearance in text: MYH7: R723G

PubMed Link: 34943936

Variant Present in the following documents:

• Main text

View BVdb publication page

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: R723G

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: R723G

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Alpha and beta myosin isoforms and human atrial and ventricular contraction.

Cellular And Molecular Life Sciences : Cmls

Walklate, Jonathan J; Ferrantini, Cecilia C; Johnson, Chloe A CA; Tesi, Chiara C; Poggesi, Corrado C; Geeves, Michael A MA

Publication Date: 2021-12

Variant appearance in text: MYH7: R723G

PubMed Link: 34704115

Variant Present in the following documents:

• 18_2021_Article_3971.pdf

View BVdb publication page

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Alpha and beta myosin isoforms and human atrial and ventricular contraction.

Cellular And Molecular Life Sciences : Cmls

Walklate, Jonathan J; Ferrantini, Cecilia C; Johnson, Chloe A CA; Tesi, Chiara C; Poggesi, Corrado C; Geeves, Michael A MA

Publication Date: 2021-12

Variant appearance in text: MYH7: R723G

PubMed Link: 34704115

Variant Present in the following documents:

• 18_2021_Article_3971.pdf

View BVdb publication page

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Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Npj Genomic Medicine

Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-06-16

Variant appearance in text: rs121913630

PubMed Link: 34135346

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal

Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY

Publication Date: 2021-05-21

Variant appearance in text: MYH7: 2167C>G; Arg723Gly

PubMed Link: 33769460

Variant Present in the following documents:

• ehab148_supplementary_appendix.pdf

View BVdb publication page

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: MYH7: 2167C>G; Arg723Gly

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.

Frontiers In Genetics

Zhang, Kuo K; Lin, Guigao G; Han, Dongsheng D; Han, Yanxi Y; Wang, Jian J; Shen, Yiping Y; Li, Jinming J

Publication Date: 2020

Variant appearance in text: MYH7: 2167C>G; Arg723Gly

PubMed Link: 33240328

Variant Present in the following documents:

• Main text

View BVdb publication page

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RAD-Deficient Human Cardiomyocytes Develop Hypertrophic Cardiomyopathy Phenotypes Due to Calcium Dysregulation.

Frontiers In Cell And Developmental Biology

Li, Ya'nan Y; Chang, Yun Y; Li, Xiaolei X; Li, Xiaowei X; Gao, Jian J; Zhou, Yafei Y; Wu, Fujian F; Bai, Rui R; Dong, Tao T; Ma, Shuhong S; Zhang, Siyao S; Lu, Wen-Jing WJ; Tan, Xiaoqiu X; Wang, Yongming Y; Lan, Feng F

Publication Date: 2020

Variant appearance in text: MYH7: R723G

PubMed Link: 33195237

Variant Present in the following documents:

• fcell-08-585879.pdf

View BVdb publication page

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Stochastic allelic expression as trigger for contractile imbalance in hypertrophic cardiomyopathy.

Biophysical Reviews

Montag, Judith J; Kraft, Theresia T

Publication Date: 2020-08

Variant appearance in text: MYH7: R723G

PubMed Link: 32661905

Variant Present in the following documents:

• Main text
• 12551_2020_Article_719.pdf

View BVdb publication page

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Familial Hypertrophic Cardiomyopathy: Late Potentials and Other Prognostic Markers.

Cureus

Chaves-Markman, Ândrea Â; Markman, Manuel M; Santos-Veloso, Marcelo Antônio O MAO; Bezerra, Lucas S LS; Sobral Filho, Dário C DC; Markman Filho, Brivaldo B

Publication Date: 2020-01-01

Variant appearance in text: MYH7: R723G

PubMed Link: 32042515

Variant Present in the following documents:

• cureus-0012-00000006530.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MYH7: 2167C>G; R723G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: MYH7: 2167C>G; Arg723Gly

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 6
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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The Year of the Rat: The Rat Genome Database at 20: a multi-species knowledgebase and analysis platform.

Nucleic Acids Research

Smith, Jennifer R JR; Hayman, G Thomas GT; Wang, Shur-Jen SJ; Laulederkind, Stanley J F SJF; Hoffman, Matthew J MJ; Kaldunski, Mary L ML; Tutaj, Monika M; Thota, Jyothi J; Nalabolu, Harika S HS; Ellanki, Santoshi L R SLR; Tutaj, Marek A MA; De Pons, Jeffrey L JL; Kwitek, Anne E AE; Dwinell, Melinda R MR; Shimoyama, Mary E ME

Publication Date: 2020-01-08

Variant appearance in text: MYH7: R723G

PubMed Link: 31713623

Variant Present in the following documents:

• gkz1041.pdf

View BVdb publication page

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Myosin motor domains carrying mutations implicated in early or late onset hypertrophic cardiomyopathy have similar properties.

The Journal Of Biological Chemistry

Vera, Carlos D CD; Johnson, Chloe A CA; Walklate, Jonathan J; Adhikari, Arjun A; Svicevic, Marina M; Mijailovich, Srboljub M SM; Combs, Ariana C AC; Langer, Stephen J SJ; Ruppel, Kathleen M KM; Spudich, James A JA; Geeves, Michael A MA; Leinwand, Leslie A LA

Publication Date: 2019-11-15

Variant appearance in text: MYH7: R723G

PubMed Link: 31582565

Variant Present in the following documents:

• Main text

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYH7: 2167C>G; R723G

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation

Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP

Publication Date: 2019-07-16

Variant appearance in text: MYH7: 2167C>G; Arg723Gly

PubMed Link: 31006259

Variant Present in the following documents:

• cir-140-184-s001.pdf

View BVdb publication page

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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: R723G

PubMed Link: 30740621

Variant Present in the following documents:

• Main text
• 424_2019_Article_2260.pdf

View BVdb publication page

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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: 2167C>G; Arg723Gly

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Converter domain mutations in myosin alter structural kinetics and motor function.

The Journal Of Biological Chemistry

Gunther, Laura K LK; Rohde, John A JA; Tang, Wanjian W; Walton, Shane D SD; Unrath, William C WC; Trivedi, Darshan V DV; Muretta, Joseph M JM; Thomas, David D DD; Yengo, Christopher M CM

Publication Date: 2019-02-01

Variant appearance in text: MYH7: R723G

PubMed Link: 30518549

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hypertrophic cardiomyopathy R403Q mutation in rabbit β-myosin reduces contractile function at the molecular and myofibrillar levels.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Lowey, Susan S; Bretton, Vera V; Joel, Peteranne B PB; Trybus, Kathleen M KM; Gulick, James J; Robbins, Jeffrey J; Kalganov, Albert A; Cornachione, Anabelle S AS; Rassier, Dilson E DE

Publication Date: 2018-10-30

Variant appearance in text: MYH7: R723G

PubMed Link: 30322937

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition.

Nature Communications

Robert-Paganin, Julien J; Auguin, Daniel D; Houdusse, Anne A

Publication Date: 2018-10-01

Variant appearance in text: MYH7: R723G

PubMed Link: 30275503

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle.

International Journal Of Molecular Sciences

Vikhorev, Petr G PG; Vikhoreva, Natalia N NN

Publication Date: 2018-07-31

Variant appearance in text: MYH7: R723G

PubMed Link: 30065175

Variant Present in the following documents:

• Main text
• ijms-19-02234.pdf

View BVdb publication page

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Do Actomyosin Single-Molecule Mechanics Data Predict Mechanics of Contracting Muscle?

International Journal Of Molecular Sciences

Månsson, Alf A; Ušaj, Marko M; Moretto, Luisa L; Rassier, Dilson E DE

Publication Date: 2018-06-25

Variant appearance in text: MYH7: R723G

PubMed Link: 29941816

Variant Present in the following documents:

• ijms-19-01863.pdf

View BVdb publication page

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Efficient Knock-in of a Point Mutation in Porcine Fibroblasts Using the CRISPR/Cas9-GMNN Fusion Gene.

Genes

Gerlach, Max M; Kraft, Theresia T; Brenner, Bernhard B; Petersen, Björn B; Niemann, Heiner H; Montag, Judith J

Publication Date: 2018-06-13

Variant appearance in text: MYH7: 2167C>G; R723G

PubMed Link: 29899280

Variant Present in the following documents:

• Main text

View BVdb publication page

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CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy.

European Heart Journal

Mosqueira, Diogo D; Mannhardt, Ingra I; Bhagwan, Jamie R JR; Lis-Slimak, Katarzyna K; Katili, Puspita P; Scott, Elizabeth E; Hassan, Mustafa M; Prondzynski, Maksymilian M; Harmer, Stephen C SC; Tinker, Andrew A; Smith, James G W JGW; Carrier, Lucie L; Williams, Philip M PM; Gaffney, Daniel D; Eschenhagen, Thomas T; Hansen, Arne A; Denning, Chris C

Publication Date: 2018-11-14

Variant appearance in text: MYH7: R723G

PubMed Link: 29741611

Variant Present in the following documents:

• Main text
• ehy249.pdf

View BVdb publication page

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Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy.

Frontiers In Physiology

Montag, Judith J; Kowalski, Kathrin K; Makul, Mirza M; Ernstberger, Pia P; Radocaj, Ante A; Beck, Julia J; Becker, Edgar E; Tripathi, Snigdha S; Keyser, Britta B; Mühlfeld, Christian C; Wissel, Kirsten K; Pich, Andreas A; van der Velden, Jolanda J; Dos Remedios, Cristobal G CG; Perrot, Andreas A; Francino, Antonio A; Navarro-López, Francesco F; Brenner, Bernhard B; Kraft, Theresia T

Publication Date: 2018

Variant appearance in text: MYH7: 2167C>G; R723G

PubMed Link: 29686627

Variant Present in the following documents:

• Main text
• Presentation1.pdf
• fphys-09-00359.pdf

View BVdb publication page

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Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs.

Scientific Reports

Montag, J J; Petersen, B B; Flögel, A K AK; Becker, E E; Lucas-Hahn, A A; Cost, G J GJ; Mühlfeld, C C; Kraft, T T; Niemann, H H; Brenner, B B

Publication Date: 2018-03-19

Variant appearance in text: MYH7: R723G

PubMed Link: 29555974

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

Scientific Reports

Wang, Jie J; Wan, Ke K; Sun, Jiayu J; Li, Weihao W; Liu, Hong H; Han, Yuchi Y; Chen, Yucheng Y

Publication Date: 2018-01-17

Variant appearance in text: MYH7: Arg723Gly

PubMed Link: 29343710

Variant Present in the following documents:

• Main text
• 41598_2018_Article_19372.pdf

View BVdb publication page

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Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

Journal Of Muscle Research And Cell Motility

Montag, Judith J; Syring, Mandy M; Rose, Julia J; Weber, Anna-Lena AL; Ernstberger, Pia P; Mayer, Anne-Kathrin AK; Becker, Edgar E; Keyser, Britta B; Dos Remedios, Cristobal C; Perrot, Andreas A; van der Velden, Jolanda J; Francino, Antonio A; Navarro-Lopez, Francesco F; Ho, Carolyn Yung CY; Brenner, Bernhard B; Kraft, Theresia T

Publication Date: 2017-08

Variant appearance in text: MYH7: R723G

PubMed Link: 29101517

Variant Present in the following documents:

• Main text
• 10974_2017_Article_9486.pdf

View BVdb publication page

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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One

Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R

Publication Date: 2017

Variant appearance in text: MYH7: 2167C>G; R723G; rs121913630

PubMed Link: 28771489

Variant Present in the following documents:

• pone.0181465.s002.xlsx, sheet 1

View BVdb publication page

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Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife

Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R

Publication Date: 2017-06-13

Variant appearance in text: MYH7: R723G

PubMed Link: 28606303

Variant Present in the following documents:

• Main text
• elife-24634.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH7: 2167C>G; Arg723Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Nature Structural & Molecular Biology

Nag, Suman S; Trivedi, Darshan V DV; Sarkar, Saswata S SS; Adhikari, Arjun S AS; Sunitha, Margaret S MS; Sutton, Shirley S; Ruppel, Kathleen M KM; Spudich, James A JA

Publication Date: 2017-06

Variant appearance in text: MYH7: R723G

PubMed Link: 28481356

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy.

Science Advances

Kawana, Masataka M; Sarkar, Saswata S SS; Sutton, Shirley S; Ruppel, Kathleen M KM; Spudich, James A JA

Publication Date: 2017-02

Variant appearance in text: MYH7: R723G

PubMed Link: 28246639

Variant Present in the following documents:

• Main text

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine

Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE

Publication Date: 2017-02-06

Variant appearance in text: MYH7: 2167C>G; Arg723Gly

PubMed Link: 28166811

Variant Present in the following documents:

• Main text
• 13073_2017_Article_403.pdf

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Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Stem Cell Reports

Pioner, Josè Manuel JM; Racca, Alice W AW; Klaiman, Jordan M JM; Yang, Kai-Chun KC; Guan, Xuan X; Pabon, Lil L; Muskheli, Veronica V; Zaunbrecher, Rebecca R; Macadangdang, Jesse J; Jeong, Mark Y MY; Mack, David L DL; Childers, Martin K MK; Kim, Deok-Ho DH; Tesi, Chiara C; Poggesi, Corrado C; Murry, Charles E CE; Regnier, Michael M

Publication Date: 2016-06-14

Variant appearance in text: MYH7: R723G

PubMed Link: 27161364

Variant Present in the following documents:

• main.pdf
• mmc2.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: R723G

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: R723G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Heart (British Cardiac Society)

García-Giustiniani, Diego D; Arad, Michael M; Ortíz-Genga, Martín M; Barriales-Villa, Roberto R; Fernández, Xusto X; Rodríguez-García, Isabel I; Mazzanti, Andrea A; Veira, Elena E; Maneiro, Emilia E; Rebolo, Paula P; Lesende, Iván I; Cazón, Laura L; Freimark, Dov D; Gimeno-Blanes, Juan Ramón JR; Seidman, Christine C; Seidman, Jonathan J; McKenna, William W; Monserrat, Lorenzo L

Publication Date: 2015-07

Variant appearance in text: MYH7: R723G

PubMed Link: 25935763

Variant Present in the following documents:

• Main text

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Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes.

Cardiovascular Research

Eschenhagen, Thomas T; Mummery, Christine C; Knollmann, Bjorn C BC

Publication Date: 2015-04-01

Variant appearance in text: MYH7: R723G

PubMed Link: 25618410

Variant Present in the following documents:

• cvv017.pdf

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Familial hypertrophic cardiomyopathy: functional variance among individual cardiomyocytes as a trigger of FHC-phenotype development.

Frontiers In Physiology

Brenner, Bernhard B; Seebohm, Benjamin B; Tripathi, Snigdha S; Montag, Judith J; Kraft, Theresia T

Publication Date: 2014

Variant appearance in text: MYH7: R723G

PubMed Link: 25346696

Variant Present in the following documents:

• Main text

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