Publications:

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Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Frontiers In Physiology

Noureddine, Maya M; Gehmlich, Katja K

Publication Date: 2023

Variant appearance in text: TTN: Arg740Leu

PubMed Link: 36935760

Variant Present in the following documents:

• Main text
• fphys-14-1143858.pdf

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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: TTN: 2219G>T; Arg740Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: TTN: 2219G>T; Arg740Leu

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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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: TTN: R740L; rs28933405

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Exploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I.

Open Biology

Bogomolovas, Julius J; Fleming, Jennifer R JR; Anderson, Brian R BR; Williams, Rhys R; Lange, Stephan S; Simon, Bernd B; Khan, Muzamil M MM; Rudolf, Rüdiger R; Franke, Barbara B; Bullard, Belinda B; Rigden, Daniel J DJ; Granzier, Henk H; Labeit, Siegfried S; Mayans, Olga O

Publication Date: 2016-09

Variant appearance in text: TTN: R740L

PubMed Link: 27683155

Variant Present in the following documents:

• Main text
• rsob-6-160114.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: CMH9: R740L; rs28933405

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell

Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC

Publication Date: 2014-01

Variant appearance in text: TTN: R740L

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_16_MOESM9_ESM.pdf

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Titin is a major human disease gene.

Circulation

LeWinter, Martin M MM; Granzier, Henk L HL

Publication Date: 2013-02-26

Variant appearance in text: TTN: Arg740Leu

PubMed Link: 23439446

Variant Present in the following documents:

• Main text

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Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

Circulation

Landstrom, Andrew P AP; Ackerman, Michael J MJ

Publication Date: 2010-12-07

Variant appearance in text: TTN: R740L

PubMed Link: 21135372

Variant Present in the following documents:

• Main text

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Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.

Journal Of Biomolecular Techniques : Jbt

Dames, Shale S; Durtschi, Jacob J; Geiersbach, Katherine K; Stephens, Jack J; Voelkerding, Karl V KV

Publication Date: 2010-07

Variant appearance in text: TTN: R740L

PubMed Link: 20592870

Variant Present in the following documents:

• Main text

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Muscle giants: molecular scaffolds in sarcomerogenesis.

Physiological Reviews

Kontrogianni-Konstantopoulos, Aikaterini A; Ackermann, Maegen A MA; Bowman, Amber L AL; Yap, Solomon V SV; Bloch, Robert J RJ

Publication Date: 2009-10

Variant appearance in text: TTN: Arg740Leu

PubMed Link: 19789381

Variant Present in the following documents:

• Main text

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Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

Molecular Genetics And Metabolism

Bos, J Martijn JM; Poley, Rainer N RN; Ny, Melissa M; Tester, David J DJ; Xu, Xiaolei X; Vatta, Matteo M; Towbin, Jeffrey A JA; Gersh, Bernard J BJ; Ommen, Steve R SR; Ackerman, Michael J MJ

Publication Date: 2006-05

Variant appearance in text: TTN: R740L

PubMed Link: 16352453

Variant Present in the following documents:

• Main text

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