Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: PIEZO1: G782S

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Spatially restricted drivers and transitional cell populations cooperate with the microenvironment in untreated and chemo-resistant pancreatic cancer.

Nature Genetics

Cui Zhou, Daniel D; Jayasinghe, Reyka G RG; Chen, Siqi S; Herndon, John M JM; Iglesia, Michael D MD; Navale, Pooja P; Wendl, Michael C MC; Caravan, Wagma W; Sato, Kazuhito K; Storrs, Erik E; Mo, Chia-Kuei CK; Liu, Jingxian J; Southard-Smith, Austin N AN; Wu, Yige Y; Naser Al Deen, Nataly N; Baer, John M JM; Fulton, Robert S RS; Wyczalkowski, Matthew A MA; Liu, Ruiyang R; Fronick, Catrina C CC; Fulton, Lucinda A LA; Shinkle, Andrew A; Thammavong, Lisa L; Zhu, Houxiang H; Sun, Hua H; Wang, Liang-Bo LB; Li, Yize Y; Zuo, Chong C; McMichael, Joshua F JF; Davies, Sherri R SR; Appelbaum, Elizabeth L EL; Robbins, Keenan J KJ; Chasnoff, Sara E SE; Yang, Xiaolu X; Reeb, Ashley N AN; Oh, Clara C; Serasanambati, Mamatha M; Lal, Preet P; Varghese, Rajees R; Mashl, Jay R JR; Ponce, Jennifer J; Terekhanova, Nadezhda V NV; Yao, Lijun L; Wang, Fang F; Chen, Lijun L; Schnaubelt, Michael M; Lu, Rita Jui-Hsien RJ; Schwarz, Julie K JK; Puram, Sidharth V SV; Kim, Albert H AH; Song, Sheng-Kwei SK; Shoghi, Kooresh I KI; Lau, Ken S KS; Ju, Tao T; Chen, Ken K; Chatterjee, Deyali D; Hawkins, William G WG; Zhang, Hui H; Achilefu, Samuel S; Chheda, Milan G MG; Oh, Stephen T ST; Gillanders, William E WE; Chen, Feng F; DeNardo, David G DG; Fields, Ryan C RC; Ding, Li L

Publication Date: 2022-09

Variant appearance in text: PIEZO1: 2344G>A

PubMed Link: 35995947

Variant Present in the following documents:

• 41588_2022_1157_MOESM4_ESM.xlsx, sheet 2

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: PIEZO1: G782S; rs200970763

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Hereditary Xerocytosis: Differential Behavior of PIEZO1 Mutations in the N-Terminal Extracellular Domain Between Red Blood Cells and HEK Cells.

Frontiers In Physiology

Yamaguchi, Yohei Y; Allegrini, Benoit B; Rapetti-Mauss, Raphaël R; Picard, Véronique V; Garçon, Loïc L; Kohl, Peter P; Soriani, Olivier O; Peyronnet, Rémi R; Guizouarn, Hélène H

Publication Date: 2021

Variant appearance in text: PIEZO1: G782S

PubMed Link: 34737711

Variant Present in the following documents:

• Main text
• fphys-12-736585.pdf

View BVdb publication page

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Piezo1 Forms Specific, Functionally Important Interactions with Phosphoinositides and Cholesterol.

Biophysical Journal

Buyan, Amanda A; Cox, Charles D CD; Barnoud, Jonathan J; Li, Jinyuan J; Chan, Hannah S M HSM; Martinac, Boris B; Marrink, Siewert J SJ; Corry, Ben B

Publication Date: 2020-10-20

Variant appearance in text: PIEZO1: G782S

PubMed Link: 32949489

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PIEZO1: 2344G>A; Gly782Ser; rs200970763

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: PIEZO1: 2344G>A; Gly782Ser; rs200970763

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cells.

Haematologica

Caulier, Alexis A; Jankovsky, Nicolas N; Demont, Yohann Y; Ouled-Haddou, Hakim H; Demagny, Julien J; Guitton, Corinne C; Merlusca, Lavinia L; Lebon, Delphine D; Vong, Pascal P; Aubry, Aurélien A; Lahary, Agnès A; Rose, Christian C; Gréaume, Sandrine S; Cardon, Emilie E; Platon, Jessica J; Ouadid-Ahidouch, Halima H; Rochette, Jacques J; Marolleau, Jean-Pierre JP; Picard, Véronique V; Garçon, Loïc L

Publication Date: 2020-03

Variant appearance in text: PIEZO1: 2344G>A

PubMed Link: 31413092

Variant Present in the following documents:

• 1050610.pdf

View BVdb publication page

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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: PIEZO1: G782S

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 8

View BVdb publication page

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Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.

Haematologica

Picard, Véronique V; Guitton, Corinne C; Thuret, Isabelle I; Rose, Christian C; Bendelac, Laurence L; Ghazal, Kaldoun K; Aguilar-Martinez, Patricia P; Badens, Catherine C; Barro, Claire C; Bénéteau, Claire C; Berger, Claire C; Cathébras, Pascal P; Deconinck, Eric E; Delaunay, Jacques J; Durand, Jean-Marc JM; Firah, Nadia N; Galactéros, Frédéric F; Godeau, Bertrand B; Jaïs, Xavier X; de Jaureguiberry, Jean-Pierre JP; Le Stradic, Camille C; Lifermann, François F; Maffre, Robert R; Morin, Gilles G; Perrin, Julien J; Proulle, Valérie V; Ruivard, Marc M; Toutain, Fabienne F; Lahary, Agnès A; Garçon, Loïc L

Publication Date: 2019-08

Variant appearance in text: PIEZO1: Gly782Ser

PubMed Link: 30655378

Variant Present in the following documents:

• Main text
• 1041554.pdf

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: PIEZO1: 2344G>A; Gly782Ser; rs200970763

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.

Frontiers In Physiology

Flatt, Joanna F JF; Bruce, Lesley J LJ

Publication Date: 2018

Variant appearance in text: FAM38A: Gly782Ser

PubMed Link: 29713289

Variant Present in the following documents:

• Main text
• fphys-09-00367.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: PIEZO1: 2344G>A; G782S; rs200970763

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1
• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: PIEZO1: G782S

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.

Haematologica

Rapetti-Mauss, Raphaël R; Picard, Véronique V; Guitton, Corinne C; Ghazal, Khaldoun K; Proulle, Valérie V; Badens, Catherine C; Soriani, Olivier O; Garçon, Loïc L; Guizouarn, Hélène H

Publication Date: 2017-10

Variant appearance in text: PIEZO1: G782S

PubMed Link: 28619848

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: PIEZO1: G782S; rs200970763

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 3

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: PIEZO1: G782S

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PIEZO1: G782S

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic risk factors in two Utah pedigrees at high risk for suicide.

Translational Psychiatry

Coon, H H; Darlington, T T; Pimentel, R R; Smith, K R KR; Huff, C D CD; Hu, H H; Jerominski, L L; Hansen, J J; Klein, M M; Callor, W B WB; Byrd, J J; Bakian, A A; Crowell, S E SE; McMahon, W M WM; Rajamanickam, V V; Camp, N J NJ; McGlade, E E; Yurgelun-Todd, D D; Grey, T T; Gray, D D

Publication Date: 2013-11-19

Variant appearance in text: rs200970763

PubMed Link: 24252905

Variant Present in the following documents:

• Main text
• tp2013100a.pdf

View BVdb publication page

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