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: MYL2: 64G>A; Glu22Lys

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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Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine

Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW

Publication Date: 2022-10-20

Variant appearance in text: MYL2: Glu22Lys; rs104894368

PubMed Link: 36264615

Variant Present in the following documents:

• hcg-15-e003704-s001.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYL2: 64G>A; Glu22Lys

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Programmed Exercise Attenuates Familial Hypertrophic Cardiomyopathy in Transgenic E22K Mice via Inhibition of PKC-α/NFAT Pathway.

Frontiers In Cardiovascular Medicine

Wang, Haiying H; Lin, Yuedong Y; Zhang, Ran R; Chen, Yafen Y; Ji, Wei W; Li, Shenwei S; Wang, Li L; Tan, Rubin R; Yuan, Jinxiang J

Publication Date: 2022

Variant appearance in text: MYL2: E22K

PubMed Link: 35265680

Variant Present in the following documents:

• fcvm-09-808163.pdf

View BVdb publication page

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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Journal Of Cardiovascular Development And Disease

Pezzoli, Laura L; Pezzani, Lidia L; Bonanomi, Ezio E; Marrone, Chiara C; Scatigno, Agnese A; Cereda, Anna A; Bedeschi, Maria Francesca MF; Selicorni, Angelo A; Gasperini, Serena S; Bini, Paolo P; Maitz, Silvia S; Maccioni, Carla C; Pedron, Cristina C; Colombo, Lorenzo L; Marchetti, Daniela D; Bellini, Matteo M; Lincesso, Anna Rita AR; Perego, Loredana L; Pingue, Monica M; Della Malva, Nunzia N; Mangili, Giovanna G; Ferrazzi, Paolo P; Iascone, Maria M

Publication Date: 2021-12-21

Variant appearance in text: MYL2: 64G>A; Glu22Lys

PubMed Link: 35050212

Variant Present in the following documents:

• Main text

View BVdb publication page

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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Journal Of Cardiovascular Development And Disease

Pezzoli, Laura L; Pezzani, Lidia L; Bonanomi, Ezio E; Marrone, Chiara C; Scatigno, Agnese A; Cereda, Anna A; Bedeschi, Maria Francesca MF; Selicorni, Angelo A; Gasperini, Serena S; Bini, Paolo P; Maitz, Silvia S; Maccioni, Carla C; Pedron, Cristina C; Colombo, Lorenzo L; Marchetti, Daniela D; Bellini, Matteo M; Lincesso, Anna Rita AR; Perego, Loredana L; Pingue, Monica M; Della Malva, Nunzia N; Mangili, Giovanna G; Ferrazzi, Paolo P; Iascone, Maria M

Publication Date: 2021-12-21

Variant appearance in text: MYL2: 64G>A; Glu22Lys

PubMed Link: 35050212

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiomyopathic mutations in essential light chain reveal mechanisms regulating the super relaxed state of myosin.

The Journal Of General Physiology

Sitbon, Yoel H YH; Diaz, Francisca F; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Wangpaichitr, Medhi M; Szczesna-Cordary, Danuta D

Publication Date: 2021-07-05

Variant appearance in text: MYL2: E22K

PubMed Link: 34014247

Variant Present in the following documents:

• JGP_202012801.pdf

View BVdb publication page

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Cardiomyopathic mutations in essential light chain reveal mechanisms regulating the super relaxed state of myosin.

The Journal Of General Physiology

Sitbon, Yoel H YH; Diaz, Francisca F; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Wangpaichitr, Medhi M; Szczesna-Cordary, Danuta D

Publication Date: 2021-07-05

Variant appearance in text: MYL2: E22K

PubMed Link: 34014247

Variant Present in the following documents:

• JGP_202012801.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: MYL2: 64G>A; Glu22Lys

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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Fast searches of large collections of single-cell data using scfind.

Nature Methods

Lee, Jimmy Tsz Hang JTH; Patikas, Nikolaos N; Kiselev, Vladimir Yu VY; Hemberg, Martin M

Publication Date: 2021-03

Variant appearance in text: rs104894368

PubMed Link: 33649586

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac myosin super relaxation (SRX): a perspective on fundamental biology, human disease and therapeutics.

Biology Open

Schmid, Manuel M; Toepfer, Christopher N CN

Publication Date: 2021-02-15

Variant appearance in text: MYL2: E22K

PubMed Link: 33589442

Variant Present in the following documents:

• Main text
• biolopen-10-057646.pdf

View BVdb publication page

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Hypertrophic cardiomyopathy associated E22K mutation in myosin regulatory light chain decreases calcium-activated tension and stiffness and reduces myofilament Ca2+ sensitivity.

The Febs Journal

Zhang, Jiajia J; Wang, Li L; Kazmierczak, Katarzyna K; Yun, Hang H; Szczesna-Cordary, Danuta D; Kawai, Masataka M

Publication Date: 2021-08

Variant appearance in text: MYL2: E22K

PubMed Link: 33548158

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics

Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR

Publication Date: 2021-02

Variant appearance in text: MYL2: 64G>A; E22K

PubMed Link: 33495596

Variant Present in the following documents:

• EMS114661-supplement-Supplementary_Tables.xlsx, sheet 3

View BVdb publication page

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Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy.

Circulation. Heart Failure

Schuldt, Maike M; Pei, Jiayi J; Harakalova, Magdalena M; Dorsch, Larissa M LM; Schlossarek, Saskia S; Mokry, Michal M; Knol, Jaco C JC; Pham, Thang V TV; Schelfhorst, Tim T; Piersma, Sander R SR; Dos Remedios, Cris C; Dalinghaus, Michiel M; Michels, Michelle M; Asselbergs, Folkert W FW; Moutin, Marie-Jo MJ; Carrier, Lucie L; Jimenez, Connie R CR; van der Velden, Jolanda J; Kuster, Diederik W D DWD

Publication Date: 2021-01

Variant appearance in text: MYL2: 64G>A; E22K

PubMed Link: 33430602

Variant Present in the following documents:

• hhf-14-e007022-s001.pdf

View BVdb publication page

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: MYL2: 64G>A; Glu22Lys

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

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

van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH

Publication Date: 2020-11

Variant appearance in text: MYL2: 64G>A; Glu22Lys; rs104894368

PubMed Link: 32665702

Variant Present in the following documents:

• Main text
• 41436_2020_Article_900.pdf

View BVdb publication page

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Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

Plos Genetics

Manivannan, Sathiya N SN; Darouich, Sihem S; Masmoudi, Aida A; Gordon, David D; Zender, Gloria G; Han, Zhe Z; Fitzgerald-Butt, Sara S; White, Peter P; McBride, Kim L KL; Kharrat, Maher M; Garg, Vidu V

Publication Date: 2020-05

Variant appearance in text: MYL2: E22K

PubMed Link: 32453731

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.

Circulation

Marstrand, Peter P; Han, Larry L; Day, Sharlene M SM; Olivotto, Iacopo I; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Wittekind, Samuel G SG; Helms, Adam A; Saberi, Sara S; Jacoby, Daniel D; Ware, James S JS; Colan, Steven D SD; Semsarian, Christopher C; Ingles, Jodie J; Lakdawala, Neal K NK; Ho, Carolyn Y CY; ,

Publication Date: 2020-04-28

Variant appearance in text: MYL2: 64G>A; Glu22Lys

PubMed Link: 32228044

Variant Present in the following documents:

• cir-141-1371-s001.pdf

View BVdb publication page

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Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy.

Cells

Dorsch, Larissa M LM; Schuldt, Maike M; dos Remedios, Cristobal G CG; Schinkel, Arend F L AFL; de Jong, Peter L PL; Michels, Michelle M; Kuster, Diederik W D DWD; Brundel, Bianca J J M BJJM; van der Velden, Jolanda J

Publication Date: 2019-07-18

Variant appearance in text: MYL2: 64G>A; Glu22Lys

PubMed Link: 31323898

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heritability in genetic heart disease: the role of genetic background.

Open Heart

Jansweijer, Joeri A JA; van Spaendonck-Zwarts, Karin Y KY; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Christiaans, Imke I; van der Smagt, Jasper J; Vermeer, Alexa A; Bos, J Martijn JM; Moss, Arthur J AJ; Swan, Heikki H; Priori, Sylvia G SG; Rydberg, Annika A; Tfelt-Hansen, Jacob J; Ackerman, Michael J MJ; Olivotto, Iacopo I; Charron, Philippe P; Gimeno, Juan R JR; van den Berg, Maarten M; Wilde, Arthur A M AAM; Pinto, Yigal M YM

Publication Date: 2019

Variant appearance in text: MYL2: E22K

PubMed Link: 31245010

Variant Present in the following documents:

• openhrt-2018-000929supp001.pdf

View BVdb publication page

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Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Journal Of Muscle Research And Cell Motility

Sitbon, Yoel H YH; Yadav, Sunil S; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D

Publication Date: 2020-12

Variant appearance in text: MYL2: E22K

PubMed Link: 31131433

Variant Present in the following documents:

• Main text

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: MYL2: 64G>A; Glu22Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Plos Genetics

Schumacher, Dirk D; Andrieux, Geoffroy G; Boehnke, Karsten K; Keil, Marlen M; Silvestri, Alessandra A; Silvestrov, Maxine M; Keilholz, Ulrich U; Haybaeck, Johannes J; Erdmann, Gerrit G; Sachse, Christoph C; Templin, Markus M; Hoffmann, Jens J; Boerries, Melanie M; Schäfer, Reinhold R; Regenbrecht, Christian R A CRA

Publication Date: 2019-03

Variant appearance in text: MYL2: E22K; rs104894368

PubMed Link: 30925167

Variant Present in the following documents:

• pgen.1008076.s013.xlsx, sheet 1

View BVdb publication page

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Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

American Journal Of Medical Genetics. Part A

Al-Dewik, Nader N; Mohd, Howaida H; Al-Mureikhi, Mariam M; Ali, Rehab R; Al-Mesaifri, Fatma F; Mahmoud, Laila L; Shahbeck, Noora N; El-Akouri, Karen K; Almulla, Mariam M; Al Sulaiman, Reem R; Musa, Sara S; Al-Marri, Ajayeb Al-Nabet AA; Richard, Gabriele G; Juusola, Jane J; Solomon, Benjamin D BD; Alkuraya, Fowzan S FS; Ben-Omran, Tawfeg T

Publication Date: 2019-06

Variant appearance in text: MYL2: E22K

PubMed Link: 30919572

Variant Present in the following documents:

• AJMG-179-927.pdf

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: MYL2: 64G>A; Glu22Lys; rs104894368

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

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: MYL2: 64G>A; Glu22Lys; rs104894368

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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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: MYL2: E22K; rs104894368

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: MYL2: 64G>A; E22K; rs104894368

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: MYL2: E22K

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: MYL2: 64G>A; Glu22Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.

Biophysical Reviews

Yadav, Sunil S; Szczesna-Cordary, Danuta D

Publication Date: 2017-02

Variant appearance in text: MYL2: E22K

PubMed Link: 28510043

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MYL2: 64G>A; Glu22Lys

PubMed Link: 28166811

Variant Present in the following documents:

• Main text
• 13073_2017_Article_403.pdf

View BVdb publication page

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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

Genome Research

Methner, D Nicole R DN; Scherer, Steven E SE; Welch, Katherine K; Walkiewicz, Magdalena M; Eng, Christine M CM; Belmont, John W JW; Powell, Mark C MC; Korchina, Viktoriya V; Doddapaneni, Harsha Vardhan HV; Muzny, Donna M DM; Gibbs, Richard A RA; Wolf, Dwayne A DA; Sanchez, Luis A LA; Kahn, Roger R

Publication Date: 2016-09

Variant appearance in text: MYL2: E22K

PubMed Link: 27435932

Variant Present in the following documents:

• 1170.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: CMH10: E22K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: MYL2: E22K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Functions of myosin light chain-2 (MYL2) in cardiac muscle and disease.

Gene

Sheikh, Farah F; Lyon, Robert C RC; Chen, Ju J

Publication Date: 2015-09-10

Variant appearance in text: MYL2: E22K

PubMed Link: 26074085

Variant Present in the following documents:

• Main text

View BVdb publication page

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NECTAR: a database of codon-centric missense variant annotations.

Nucleic Acids Research

Gong, Sungsam S; Ware, James S JS; Walsh, Roddy R; Cook, Stuart A SA

Publication Date: 2014-01

Variant appearance in text: MYL2: Glu22Lys

PubMed Link: 24297257

Variant Present in the following documents:

• Main text
• gkt1245.pdf

View BVdb publication page

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Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Journal Of Medical Genetics

Lopes, Luis R LR; Zekavati, Anna A; Syrris, Petros P; Hubank, Mike M; Giambartolomei, Claudia C; Dalageorgou, Chrysoula C; Jenkins, Sharon S; McKenna, William W; , ; Plagnol, Vincent V; Elliott, Perry M PM

Publication Date: 2013-04

Variant appearance in text: MYL2: E22K

PubMed Link: 23396983

Variant Present in the following documents:

• jmedgenet-2012-101270-s2.pdf

View BVdb publication page

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Multi-scale computational models of familial hypertrophic cardiomyopathy: genotype to phenotype.

Journal Of The Royal Society, Interface

Campbell, Stuart G SG; McCulloch, Andrew D AD

Publication Date: 2011-11-07

Variant appearance in text: MYL2: E22K

PubMed Link: 21831889

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effect of myosin RLC phosphorylation in normal and cardiomyopathic mouse hearts.

Journal Of Cellular And Molecular Medicine

Muthu, Priya P; Kazmierczak, Katarzyna K; Jones, Michelle M; Szczesna-Cordary, Danuta D

Publication Date: 2012-04

Variant appearance in text: MYL2: E22K

PubMed Link: 21696541

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• jcmm0016-0911.pdf

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In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Circulation Research

Harris, Samantha P SP; Lyons, Ross G RG; Bezold, Kristina L KL

Publication Date: 2011-03-18

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PubMed Link: 21415409

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Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy.

Progress In Pediatric Cardiology

Frazier, Aisha H AH; Ramirez-Correa, Genaro A GA; Murphy, Anne M AM

Publication Date: 2011-01-01

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PubMed Link: 21297871

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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

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PubMed Link: 21135372

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Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Kerrick, W Glenn L WG; Kazmierczak, Katarzyna K; Xu, Yuanyuan Y; Wang, Yingcai Y; Szczesna-Cordary, Danuta D

Publication Date: 2009-03

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PubMed Link: 18987303

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Acceleration of stretch activation in murine myocardium due to phosphorylation of myosin regulatory light chain.

The Journal Of General Physiology

Stelzer, Julian E JE; Patel, Jitandrakumar R JR; Moss, Richard L RL

Publication Date: 2006-09

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PubMed Link: 16908724

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• jgp1280261.pdf

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