Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 160G>A; E54K

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: TG: 160G>A

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

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Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy

Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J

Publication Date: 2023-01-19

Variant appearance in text: TG: 160G>A; Glu54Lys

PubMed Link: 36653483

Variant Present in the following documents:

• 41417_2022_572_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: TG: 160G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: TG: 160G>A; E54K

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Prediction of various blood group systems using Korean whole-genome sequencing data.

Plos One

Hyun, Jungwon J; Oh, Sujin S; Hong, Yun Ji YJ; Park, Kyoung Un KU

Publication Date: 2022

Variant appearance in text: TG: Glu54Lys

PubMed Link: 35657818

Variant Present in the following documents:

• pone.0269481.s003.xlsx, sheet 20
• pone.0269481.s003.xlsx, sheet 240
• pone.0269481.s003.xlsx, sheet 153
• pone.0269481.s003.xlsx, sheet 8
• pone.0269481.s003.xlsx, sheet 121

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Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.

Scientific Reports

Ghalandary, Maryam M; Li, Yue Y; Fröhlich, Thomas T; Magg, Thomas T; Liu, Yanshan Y; Rohlfs, Meino M; Hollizeck, Sebastian S; Conca, Raffaele R; Schwerd, Tobias T; Uhlig, Holm H HH; Bufler, Philip P; Koletzko, Sibylle S; Muise, Aleixo M AM; Snapper, Scott B SB; Hauck, Fabian F; Klein, Christoph C; Kotlarz, Daniel D

Publication Date: 2022-03-10

Variant appearance in text: TG: 160G>A; Glu54Lys

PubMed Link: 35273242

Variant Present in the following documents:

• Main text
• 41598_2022_Article_7804.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: TG: E54K

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: TG: E54K

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research

Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G

Publication Date: 2022-02-15

Variant appearance in text: TG: 160G>A

PubMed Link: 34903606

Variant Present in the following documents:

• can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2
• can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 3

View BVdb publication page

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Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine

Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA

Publication Date: 2021-07-16

Variant appearance in text: TG: 160G>A

PubMed Link: 34271981

Variant Present in the following documents:

• 13073_2021_926_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants.

Journal Of Translational Medicine

Massacci, Alice A; Sperandio, Eleonora E; D'Ambrosio, Lorenzo L; Maffei, Mariano M; Palombo, Fabio F; Aurisicchio, Luigi L; Ciliberto, Gennaro G; Pallocca, Matteo M

Publication Date: 2020-12-30

Variant appearance in text: TG: 160G>A

PubMed Link: 33380328

Variant Present in the following documents:

• 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: TG: 160G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Nature Communications

Newell, Felicity F; Kong, Yan Y; Wilmott, James S JS; Johansson, Peter A PA; Ferguson, Peter M PM; Cui, Chuanliang C; Li, Zhongwu Z; Kazakoff, Stephen H SH; Burke, Hazel H; Dodds, Tristan J TJ; Patch, Ann-Marie AM; Nones, Katia K; Tembe, Varsha V; Shang, Ping P; van der Weyden, Louise L; Wong, Kim K; Holmes, Oliver O; Lo, Serigne S; Leonard, Conrad C; Wood, Scott S; Xu, Qinying Q; Rawson, Robert V RV; Mukhopadhyay, Pamela P; Dummer, Reinhard R; Levesque, Mitchell P MP; Jönsson, Göran G; Wang, Xuan X; Yeh, Iwei I; Wu, Hong H; Joseph, Nancy N; Bastian, Boris C BC; Long, Georgina V GV; Spillane, Andrew J AJ; Shannon, Kerwin F KF; Thompson, John F JF; Saw, Robyn P M RPM; Adams, David J DJ; Si, Lu L; Pearson, John V JV; Hayward, Nicholas K NK; Waddell, Nicola N; Mann, Graham J GJ; Guo, Jun J; Scolyer, Richard A RA

Publication Date: 2019-07-18

Variant appearance in text: TG: 160G>A

PubMed Link: 31320640

Variant Present in the following documents:

• 41467_2019_11107_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: TG: Glu54Lys

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 3

View BVdb publication page

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: TG: 160G>A

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: TG: 160G>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: TG: E54K

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: TG: 160G>A; E54K

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Maladaptive modifications in myofilament proteins and triggers in the progression to heart failure and sudden death.

Pflugers Archiv : European Journal Of Physiology

Yar, Sumeyye S; Monasky, Michelle M MM; Solaro, R John RJ

Publication Date: 2014-06

Variant appearance in text: TG: Glu54Lys

PubMed Link: 24488009

Variant Present in the following documents:

• Main text

View BVdb publication page

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Decreasing tropomyosin phosphorylation rescues tropomyosin-induced familial hypertrophic cardiomyopathy.

The Journal Of Biological Chemistry

Schulz, Emily M EM; Wilder, Tanganyika T; Chowdhury, Shamim A K SA; Sheikh, Hajer N HN; Wolska, Beata M BM; Solaro, R John RJ; Wieczorek, David F DF

Publication Date: 2013-10-04

Variant appearance in text: TG: E54K

PubMed Link: 23960072

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interplay between the overlapping ends of tropomyosin and the N terminus of cardiac troponin T affects tropomyosin states on actin.

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

Mamidi, Ranganath R; Michael, John Jeshurun JJ; Muthuchamy, Mariappan M; Chandra, Murali M

Publication Date: 2013-09

Variant appearance in text: TG: E54K

PubMed Link: 23748972

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tropomyosin dephosphorylation results in compensated cardiac hypertrophy.

The Journal Of Biological Chemistry

Schulz, Emily M EM; Correll, Richard N RN; Sheikh, Hajer N HN; Lofrano-Alves, Marco S MS; Engel, Patti L PL; Newman, Gilbert G; Schultz, Jo El J Jel J; Molkentin, Jeffery D JD; Wolska, Beata M BM; Solaro, R John RJ; Wieczorek, David F DF

Publication Date: 2012-12-28

Variant appearance in text: TG: E54K

PubMed Link: 23148217

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expression of tropomyosin-κ induces dilated cardiomyopathy and depresses cardiac myofilament tension by mechanisms involving cross-bridge dependent activation and altered tropomyosin phosphorylation.

Journal Of Muscle Research And Cell Motility

Karam, Chehade N CN; Warren, Chad M CM; Rajan, Sudarsan S; de Tombe, Pieter P PP; Wieczorek, David F DF; Solaro, R John RJ

Publication Date: 2011-03

Variant appearance in text: TG: E54K

PubMed Link: 21221740

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional effects of a tropomyosin mutation linked to FHC contribute to maladaptation during acidosis.

Journal Of Molecular And Cellular Cardiology

Sheehan, Katherine A KA; Arteaga, Grace M GM; Hinken, Aaron C AC; Dias, Fernando A FA; Ribeiro, Cibele C; Wieczorek, David F DF; Solaro, R John RJ; Wolska, Beata M BM

Publication Date: 2011-03

Variant appearance in text: TG: E54K

PubMed Link: 21047515

Variant Present in the following documents:

• Main text

View BVdb publication page

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Use of 2-D DIGE analysis reveals altered phosphorylation in a tropomyosin mutant (Glu54Lys) linked to dilated cardiomyopathy.

Proteomics

Warren, Chad M CM; Arteaga, Grace M GM; Rajan, Sudarsan S; Ahmed, Rafeeq P H RP; Wieczorek, David F DF; Solaro, R John RJ

Publication Date: 2008-01

Variant appearance in text: TG: Glu54Lys

PubMed Link: 18095372

Variant Present in the following documents:

• Main text

View BVdb publication page

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Charged residue changes in the carboxy-terminus of alpha-tropomyosin alter mouse cardiac muscle contractility.

The Journal Of Physiology

Gaffin, Robert D RD; Gokulan, Kuppan K; Sacchettini, James C JC; Hewett, Timothy T; Klevitsky, Raisa R; Robbins, Jeffrey J; Muthuchamy, Mariappan M

Publication Date: 2004-04-15

Variant appearance in text: TG: Glu54Lys

PubMed Link: 14766940

Variant Present in the following documents:

• Main text

View BVdb publication page

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