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: Ala743Val

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: 2228C>T; Ala743Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: TTN: A743V; rs267607157

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_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: TTN: A743V

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications

, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P

Publication Date: 2019-01-02

Variant appearance in text: CMD1G: A743V

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: TTN: 2228C>T; Ala743Val

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Molecules And Cells

Cho, Kae Won KW; Lee, Jongsung J; Kim, Youngjo Y

Publication Date: 2016-10

Variant appearance in text: TTN: A743V

PubMed Link: 27802374

Variant Present in the following documents:

• Main text

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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: A743V

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: A743V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: A743V

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_16_MOESM9_ESM.pdf
• 13238_2013_Article_16.pdf

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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: TMD: Ala743Val

PubMed Link: 19789381

Variant Present in the following documents:

• Main text

View BVdb publication page

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