Publications:

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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: CAPN3: 1465C>T; Arg489Trp

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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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CAPN3: R489W; rs863224957

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: CAPN3: R489W

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CAPN3: R489W

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CAPN3: 1465C>T; Arg489Trp; rs863224957

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CAPN3: 1465C>T; Arg489Trp

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis - A cross sectional survey.

Molecular Genetics And Metabolism Reports

Danckworth, F F; Karabul, N N; Posa, A A; Hanisch, F F

Publication Date: 2014

Variant appearance in text: LGMD2A: Arg489Trp

PubMed Link: 27896078

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Journal Of Human Genetics

Reddy, Hemakumar M HM; Cho, Kyung-Ah KA; Lek, Monkol M; Estrella, Elicia E; Valkanas, Elise E; Jones, Michael D MD; Mitsuhashi, Satomi S; Darras, Basil T BT; Amato, Anthony A AA; Lidov, Hart Gw HG; Brownstein, Catherine A CA; Margulies, David M DM; Yu, Timothy W TW; Salih, Mustafa A MA; Kunkel, Louis M LM; MacArthur, Daniel G DG; Kang, Peter B PB

Publication Date: 2017-02

Variant appearance in text: CAPN3: 1465C>T

PubMed Link: 27708273

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.

Muscle & Nerve

Mori-Yoshimura, Madoka M; Segawa, Kazuhiko K; Minami, Narihiro N; Oya, Yasushi Y; Komaki, Hirohumi H; Nonaka, Ikuya I; Nishino, Ichizo I; Murata, Miho M

Publication Date: 2017-04

Variant appearance in text: CAPN3: R489W

PubMed Link: 27500519

Variant Present in the following documents:

• Main text
• MUS-55-465.pdf

View BVdb publication page

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Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.

Expert Reviews In Molecular Medicine

Toral-Ojeda, Ivan I; Aldanondo, Garazi G; Lasa-Elgarresta, Jaione J; Lasa-Fernández, Haizpea H; Fernández-Torrón, Roberto R; López de Munain, Adolfo A; Vallejo-Illarramendi, Ainara A

Publication Date: 2016-04-08

Variant appearance in text: LGMD2A: Arg489Trp

PubMed Link: 27055500

Variant Present in the following documents:

• Main text
• S1462399416000090a.pdf

View BVdb publication page

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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: LGMD2A: R489W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).

Biomolecules

Chen, Qiushi Q; Müller, Juliane S JS; Pang, Poh-Choo PC; Laval, Steve H SH; Haslam, Stuart M SM; Lochmüller, Hanns H; Dell, Anne A

Publication Date: 2015-10-16

Variant appearance in text: CAPN3: 1465C>T

PubMed Link: 26501342

Variant Present in the following documents:

• Main text
• biomolecules-05-02758.pdf

View BVdb publication page

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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: CAPN3: R489W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Bmc Neurology

Stehlíková, Kristýna K; Skálová, Daniela D; Zídková, Jana J; Mrázová, Lenka L; Vondráček, Petr P; Mazanec, Radim R; Voháňka, Stanislav S; Haberlová, Jana J; Hermanová, Markéta M; Zámečník, Josef J; Souček, Ondřej O; Ošlejšková, Hana H; Dvořáčková, Nina N; Solařová, Pavla P; Fajkusová, Lenka L

Publication Date: 2014-08-19

Variant appearance in text: LGMD2: 1465C>T

PubMed Link: 25135358

Variant Present in the following documents:

• Main text

View BVdb publication page

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Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.

Plos One

Nilsson, Mats I MI; Macneil, Lauren G LG; Kitaoka, Yu Y; Alqarni, Fatimah F; Suri, Rahul R; Akhtar, Mahmood M; Haikalis, Maria E ME; Dhaliwal, Pavneet P; Saeed, Munim M; Tarnopolsky, Mark A MA

Publication Date: 2014

Variant appearance in text: CAPN3: 1465C>T

PubMed Link: 25079074

Variant Present in the following documents:

• Main text

View BVdb publication page

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Eosinophils in hereditary and inflammatory myopathies.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Schröder, Thomas T; Fuchss, Johann J; Schneider, Ilka I; Stoltenburg-Didinger, Gisela G; Hanisch, Frank F

Publication Date: 2013-12

Variant appearance in text: CAPN3: Arg489Trp

PubMed Link: 24803842

Variant Present in the following documents:

• Main text
• 1128-2460-32-148.pdf

View BVdb publication page

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Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.

Human Molecular Genetics

Kramerova, I I; Kudryashova, E E; Ermolova, N N; Saenz, A A; Jaka, O O; López de Munain, A A; Spencer, M J MJ

Publication Date: 2012-07-15

Variant appearance in text: CAPN3: R489W

PubMed Link: 22505582

Variant Present in the following documents:

• Main text

View BVdb publication page

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Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

The American Journal Of Pathology

Fanin, Marina M; Nascimbeni, Anna Chiara AC; Fulizio, Luigi L; Trevisan, Carlo Pietro CP; Meznaric-Petrusa, Marija M; Angelini, Corrado C

Publication Date: 2003-11

Variant appearance in text: LGMD2A: R489W

PubMed Link: 14578192

Variant Present in the following documents:

• Main text

View BVdb publication page

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