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2. ClinVar: improvements to accessing data.

Author

Melissa J. Landrum, Shanmuga Chitipiralla, Garth R. Brown, Chao Chen, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Kuljeet Kaur, Chunlei Liu 0002, Vitaly Lyoshin, Zenith Maddipatla, Rama Maiti, Joseph Mitchell, Nuala A. O'Leary, George R. Riley, Wenyao Shi, George Zhou, Valerie A. Schneider, Donna R. Maglott, J. Bradley Holmes, and Brandi L. Kattman

Published
2020
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3. ClinGen — The Clinical Genome Resource

Author

Rehm, Heidi L, Berg, Jonathan S, Brooks, Lisa D, Bustamante, Carlos D, Evans, James P, Landrum, Melissa J, Ledbetter, David H, Maglott, Donna R, Martin, Christa Lese, Nussbaum, Robert L, Plon, Sharon E, Ramos, Erin M, Sherry, Stephen T, and Watson, Michael S

Subjects
Genetics, Heart Disease, Prevention, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Databases, Genetic, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetic Testing, Genetic Variation, Genome, Human, Humans, National Library of Medicine (U.S.), United States, ClinGen, Medical and Health Sciences, General & Internal Medicine
Abstract

On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk. Several family members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy on echocardiography. Five years later, during a routine clinic visit of one of the genotype-positive family members, the cardiologist queries a database for current knowledge on the genetic variant and discovers that the variant is now interpreted as “likely benign” by another laboratory that uses more recently derived population-frequency data. A newly available testing panel for additional genes that are implicated in hypertrophic cardiomyopathy is initiated on an affected family member, and a different variant is found that is determined to be pathogenic. Family members are retested, and one member who previously tested negative is now found to be positive for this new variant. An immediate clinical workup detects evidence of cardiomyopathy, and an intracardiac defibrillator is implanted to reduce the risk of sudden cardiac death.

Published
2015

6. ClinVar: improving access to variant interpretations and supporting evidence.

Author

Melissa J. Landrum, Jennifer M. Lee, Mark Benson, Garth R. Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Karen Karapetyan, Kenneth S. Katz, Chunlei Liu 0002, Zenith Maddipatla, Adriana J. Malheiro, Kurt McDaniel, Michael Ovetsky, George R. Riley, George Zhou, J. Bradley Holmes, Brandi L. Kattman, and Donna R. Maglott

Published
2018
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7. Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings

Author

Lubin, Ira M., Aziz, Nazneen, Babb, Lawrence J., Ballinger, Dennis, Bisht, Himani, Church, Deanna M., Cordes, Shaun, Eilbeck, Karen, Hyland, Fiona, Kalman, Lisa, Landrum, Melissa, Lockhart, Edward R., Maglott, Donna, Marth, Gabor, Pfeifer, John D., Rehm, Heidi L., Roy, Somak, Tezak, Zivana, Truty, Rebecca, Ullman-Cullere, Mollie, Voelkerding, Karl V., Worthey, Elizabeth A., Zaranek, Alexander W., and Zook, Justin M.

Published
2017
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8. Influence of skill level on predicting the success of one's own basketball free throws.

Author

Jonathan C Maglott, David Chiasson, and Peter B Shull

Subjects
Medicine, Science
Abstract

Basketball players sometimes claim to know when their shot is good, even before it goes in. This is likely because shooter proprioception can help determine shot outcome, even before their eyes confirm it. This phenomenon, however, has not been systematically explored for collegiate and recreational shooters. This study compared how well collegiate shooters and recreational shooters could predict outcomes of their own free throws without seeing the shot result. Forty collegiate and recreational shooters shot standard free throws while wearing liquid-crystal occlusion glasses that activated to occlude vision immediately following ball release during each shot. After each shot, shooters verbally predicted shot outcome as "in" or "out", and predicted results were compared with actual outcomes. As anticipated, for made shots, collegiate shooters more accurately predicted their own shots than recreational shooters. However, unexpectedly, for missed shots, collegiate shooters were worse than recreational shooters and were even significantly worse than chance. Further analysis found that collegiate shooters exhibited a significantly higher bias toward predicting their shots as "in". Understanding how shooters of different skill levels perceive their own shot could inform future training strategies for improving shooter accuracy.

Published
2019
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11. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation.

Author

Nuala A. O'Leary, Mathew W. Wright, J. Rodney Brister, Stacy Ciufo, Diana Haddad, Richard McVeigh, Bhanu Rajput, Barbara Robbertse, Brian Smith-White, Danso Ako-Adjei, Alexander Astashyn, Azat Badretdin, Yiming Bao, Olga Blinkova, Vyacheslav Brover, Vyacheslav Chetvernin, Jinna Choi, Eric Cox, Olga D. Ermolaeva, Catherine M. Farrell, Tamara Goldfarb, Tripti Gupta, Daniel H. Haft, Eneida Hatcher, Wratko Hlavina, Vinita S. Joardar, Vamsi K. Kodali, Wenjun Li, Donna R. Maglott, Patrick Masterson, Kelly M. McGarvey, Michael R. Murphy, Kathleen O'Neill, Shashikant Pujar, Sanjida H. Rangwala, Daniel Rausch 0002, Lillian D. Riddick, Conrad L. Schoch, Andrei Shkeda, Susan S. Storz, Hanzhen Sun, Françoise Thibaud-Nissen, Igor Tolstoy, Raymond E. Tully, Anjana R. Vatsan, Craig Wallin, David Webb, Wendy Wu, Melissa J. Landrum, Avi Kimchi, Tatiana A. Tatusova, Michael DiCuccio, Paul A. Kitts, Terence D. Murphy, and Kim D. Pruitt

Published
2016
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13. Data from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Janouskova, Hana, primary, Maglott, Anne, primary, Leger, David Y., primary, Bossert, Catherine, primary, Noulet, Fanny, primary, Guerin, Eric, primary, Guenot, Dominique, primary, Pinel, Sophie, primary, Chastagner, Pascal, primary, Plenat, François, primary, Entz-Werle, Natacha, primary, Lehmann-Che, Jacqueline, primary, Godet, Julien, primary, Martin, Sophie, primary, Teisinger, Jan, primary, and Dontenwill, Monique, primary

Published
2023
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14. Supplementary Figure 2 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Janouskova, Hana, primary, Maglott, Anne, primary, Leger, David Y., primary, Bossert, Catherine, primary, Noulet, Fanny, primary, Guerin, Eric, primary, Guenot, Dominique, primary, Pinel, Sophie, primary, Chastagner, Pascal, primary, Plenat, François, primary, Entz-Werle, Natacha, primary, Lehmann-Che, Jacqueline, primary, Godet, Julien, primary, Martin, Sophie, primary, Teisinger, Jan, primary, and Dontenwill, Monique, primary

Published
2023
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15. Supplementary Table 2 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Janouskova, Hana, primary, Maglott, Anne, primary, Leger, David Y., primary, Bossert, Catherine, primary, Noulet, Fanny, primary, Guerin, Eric, primary, Guenot, Dominique, primary, Pinel, Sophie, primary, Chastagner, Pascal, primary, Plenat, François, primary, Entz-Werle, Natacha, primary, Lehmann-Che, Jacqueline, primary, Godet, Julien, primary, Martin, Sophie, primary, Teisinger, Jan, primary, and Dontenwill, Monique, primary

Published
2023
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16. Supplementary Table 3 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Janouskova, Hana, primary, Maglott, Anne, primary, Leger, David Y., primary, Bossert, Catherine, primary, Noulet, Fanny, primary, Guerin, Eric, primary, Guenot, Dominique, primary, Pinel, Sophie, primary, Chastagner, Pascal, primary, Plenat, François, primary, Entz-Werle, Natacha, primary, Lehmann-Che, Jacqueline, primary, Godet, Julien, primary, Martin, Sophie, primary, Teisinger, Jan, primary, and Dontenwill, Monique, primary

Published
2023
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17. Supplementary Table 1 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Janouskova, Hana, primary, Maglott, Anne, primary, Leger, David Y., primary, Bossert, Catherine, primary, Noulet, Fanny, primary, Guerin, Eric, primary, Guenot, Dominique, primary, Pinel, Sophie, primary, Chastagner, Pascal, primary, Plenat, François, primary, Entz-Werle, Natacha, primary, Lehmann-Che, Jacqueline, primary, Godet, Julien, primary, Martin, Sophie, primary, Teisinger, Jan, primary, and Dontenwill, Monique, primary

Published
2023
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18. Supplementary Figure 1 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Janouskova, Hana, primary, Maglott, Anne, primary, Leger, David Y., primary, Bossert, Catherine, primary, Noulet, Fanny, primary, Guerin, Eric, primary, Guenot, Dominique, primary, Pinel, Sophie, primary, Chastagner, Pascal, primary, Plenat, François, primary, Entz-Werle, Natacha, primary, Lehmann-Che, Jacqueline, primary, Godet, Julien, primary, Martin, Sophie, primary, Teisinger, Jan, primary, and Dontenwill, Monique, primary

Published
2023
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19. Supplementary Figure 3 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Janouskova, Hana, primary, Maglott, Anne, primary, Leger, David Y., primary, Bossert, Catherine, primary, Noulet, Fanny, primary, Guerin, Eric, primary, Guenot, Dominique, primary, Pinel, Sophie, primary, Chastagner, Pascal, primary, Plenat, François, primary, Entz-Werle, Natacha, primary, Lehmann-Che, Jacqueline, primary, Godet, Julien, primary, Martin, Sophie, primary, Teisinger, Jan, primary, and Dontenwill, Monique, primary

Published
2023
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20. Supplementary Figure Legends 1-3 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Janouskova, Hana, primary, Maglott, Anne, primary, Leger, David Y., primary, Bossert, Catherine, primary, Noulet, Fanny, primary, Guerin, Eric, primary, Guenot, Dominique, primary, Pinel, Sophie, primary, Chastagner, Pascal, primary, Plenat, François, primary, Entz-Werle, Natacha, primary, Lehmann-Che, Jacqueline, primary, Godet, Julien, primary, Martin, Sophie, primary, Teisinger, Jan, primary, and Dontenwill, Monique, primary

Published
2023
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21. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Author

Bale, Sherri, Bedoyan, Jirair, Behar, Doron, Bonnen, Penelope, Brooks, Lisa, Calabrese, Claudia, Calvo, Sarah, Chinnery, Patrick, Christodoulou, John, Church, Deanna, Clima, Rosanna, Cohen, Bruce H., Cotton, Richard G., de Coo, I.F.M., Derbenevoa, Olga, den Dunnen, Johan T., Dimmock, David, Enns, Gregory, Gasparre, Giuseppe, Goldstein, Amy, Gonzalez, Iris, Gwinn, Katrina, Hahn, Sihoun, Haas, Richard H., Hakonarson, Hakon, Hirano, Michio, Kerr, Douglas, Li, Dong, Lvova, Maria, Macrae, Finley, Maglott, Donna, McCormick, Elizabeth, Mitchell, Grant, Mootha, Vamsi K., Okazaki, Yasushi, Pujol, Aurora, Parisi, Melissa, Perin, Juan Carlos, Pierce, Eric A., Procaccio, Vincent, Rahman, Shamima, Reddi, Honey, Rehm, Heidi, Riggs, Erin, Rodenburg, Richard, Rubinstein, Yaffa, Saneto, Russell, Santorsola, Mariangela, Scharfe, Curt, Sheldon, Claire, Shoubridge, Eric A., Simone, Domenico, Smeets, Bert, Smeitink, Jan A., Stanley, Christine, Suomalainen, Anu, Tarnopolsky, Mark, Thiffault, Isabelle, Thorburn, David R., Van Hove, Johan, Wolfe, Lynne, Wong, Lee-Jun, Falk, Marni J., Shen, Lishuang, Gonzalez, Michael, Leipzig, Jeremy, Lott, Marie T., Stassen, Alphons P.M., Diroma, Maria Angela, Navarro-Gomez, Daniel, Yeske, Philip, Bai, Renkui, Boles, Richard G., Brilhante, Virginia, Ralph, David, DaRe, Jeana T., Shelton, Robert, Terry, Sharon F., Zhang, Zhe, Copeland, William C., van Oven, Mannis, Prokisch, Holger, Wallace, Douglas C., Attimonelli, Marcella, Krotoski, Danuta, Zuchner, Stephan, and Gai, Xiaowu

Published
2015
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22. Supplementary Table 3 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Monique Dontenwill, Jan Teisinger, Sophie Martin, Julien Godet, Jacqueline Lehmann-Che, Natacha Entz-Werle, François Plenat, Pascal Chastagner, Sophie Pinel, Dominique Guenot, Eric Guerin, Fanny Noulet, Catherine Bossert, David Y. Leger, Anne Maglott, and Hana Janouskova

Abstract

PDF file - 27K, Relationship between Alpha5 mRNA level and p53 status in human biopsies and in human xenografts in nude mice

Published
2023
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23. Supplementary Table 1 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Monique Dontenwill, Jan Teisinger, Sophie Martin, Julien Godet, Jacqueline Lehmann-Che, Natacha Entz-Werle, François Plenat, Pascal Chastagner, Sophie Pinel, Dominique Guenot, Eric Guerin, Fanny Noulet, Catherine Bossert, David Y. Leger, Anne Maglott, and Hana Janouskova

Abstract

PDF file - 25K, Mean fluorescence intensities of Alpha5 and Beta1 integrin subunits at the cell membrane

Published
2023
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24. Supplementary Figure Legends 1-3 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Monique Dontenwill, Jan Teisinger, Sophie Martin, Julien Godet, Jacqueline Lehmann-Che, Natacha Entz-Werle, François Plenat, Pascal Chastagner, Sophie Pinel, Dominique Guenot, Eric Guerin, Fanny Noulet, Catherine Bossert, David Y. Leger, Anne Maglott, and Hana Janouskova

Abstract

PDF file - 85K

Published
2023
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25. Data from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Monique Dontenwill, Jan Teisinger, Sophie Martin, Julien Godet, Jacqueline Lehmann-Che, Natacha Entz-Werle, François Plenat, Pascal Chastagner, Sophie Pinel, Dominique Guenot, Eric Guerin, Fanny Noulet, Catherine Bossert, David Y. Leger, Anne Maglott, and Hana Janouskova

Abstract

Integrins play a role in the resistance of advanced cancers to radiotherapy and chemotherapy. In this study, we show that high expression of the α5 integrin subunit compromises temozolomide-induced tumor suppressor p53 activity in human glioblastoma cells. We found that depletion of the α5 integrin subunit increased p53 activity and temozolomide sensitivity. However, when cells were treated with the p53 activator nutlin-3a, the protective effect of α5 integrin on p53 activation and cell survival was lost. In a functional p53 background, nutlin-3a downregulated the α5 integrin subunit, thereby increasing the cytotoxic effect of temozolomide. Clinically, α5β1 integrin expression was associated with a more aggressive phenotype in brain tumors, and high α5 integrin gene expression was associated with decreased survival of patients with high-grade glioma. Taken together, our findings indicate that negative cross-talk between α5β1 integrin and p53 supports glioma resistance to temozolomide, providing preclinical proof-of-concept that α5β1 integrin represents a therapeutic target for high-grade brain tumors. Direct activation of p53 may remain a therapeutic option in the subset of patients with high-grade gliomas that express both functional p53 and a high level of α5β1 integrin. Cancer Res; 72(14); 3463–70. ©2012 AACR.

Published
2023
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26. Supplementary Figure 2 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Monique Dontenwill, Jan Teisinger, Sophie Martin, Julien Godet, Jacqueline Lehmann-Che, Natacha Entz-Werle, François Plenat, Pascal Chastagner, Sophie Pinel, Dominique Guenot, Eric Guerin, Fanny Noulet, Catherine Bossert, David Y. Leger, Anne Maglott, and Hana Janouskova

Abstract

PDF file - 48K, Nutlin-3a decreases the total expression of Beta1 integrin subunit in U87MG cells but not its expression at the cell membrane

Published
2023
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27. Supplementary Figure 1 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Monique Dontenwill, Jan Teisinger, Sophie Martin, Julien Godet, Jacqueline Lehmann-Che, Natacha Entz-Werle, François Plenat, Pascal Chastagner, Sophie Pinel, Dominique Guenot, Eric Guerin, Fanny Noulet, Catherine Bossert, David Y. Leger, Anne Maglott, and Hana Janouskova

Abstract

PDF file - 131K, The effect of Alpha5 integrin on p53 activity and resistance to temozolomide is restricted to p53wt expressing cells

Published
2023
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28. Supplementary Figure 3 from Integrin α5β1 Plays a Critical Role in Resistance to Temozolomide by Interfering with the p53 Pathway in High-Grade Glioma

Author

Monique Dontenwill, Jan Teisinger, Sophie Martin, Julien Godet, Jacqueline Lehmann-Che, Natacha Entz-Werle, François Plenat, Pascal Chastagner, Sophie Pinel, Dominique Guenot, Eric Guerin, Fanny Noulet, Catherine Bossert, David Y. Leger, Anne Maglott, and Hana Janouskova

Abstract

PDF file - 32K, Nutlin-3a does not modulate the Alpha5 integrin expression in U373 cells

Published
2023
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30. Cell-based cccDNA reporter assay combined with functional genomics identifies YBX1 as HBV cccDNA host factor and antiviral candidate target

Author

Eloi R Verrier, Gaëtan Ligat, Laura Heydmann, Katharina Doernbrack, Julija Miller, Anne Maglott-Roth, Frank Jühling, Houssein El Saghire, Margaux J Heuschkel, Naoto Fujiwara, Sen-Yung Hsieh, Yujin Hoshida, David E Root, Emanuele Felli, Patrick Pessaux, Atish Mukherji, Laurent Mailly, Catherine Schuster, Laurent Brino, Michael Nassal, and Thomas F. Baumert

Subjects
Gastroenterology, Sciences du Vivant [q-bio]/Médecine humaine et pathologie
Abstract

ObjectivesChronic hepatitis B virus (HBV) infection is a leading cause of liver disease and hepatocellular carcinoma. A key feature of HBV replication is the synthesis of the covalently close circular (ccc)DNA, not targeted by current treatments and whose elimination would be crucial for viral cure. To date, little is known about cccDNA formation. One major challenge to address this urgent question is the absence of robust models for the study of cccDNA biology.DesignWe established a cell-based HBV cccDNA reporter assay and performed a loss-of-function screen targeting 239 genes encoding the human DNA damage response machinery.ResultsOvercoming the limitations of current models, the reporter assay enables to quantity cccDNA levels using a robust ELISA as a readout. A loss-of-function screen identified 27 candidate cccDNA host factors, including Y box binding protein 1 (YBX1), a DNA binding protein regulating transcription and translation. Validation studies in authentic infection models revealed a robust decrease in HBV cccDNA levels following silencing, providing proof-of-concept for the importance of YBX1 in the early steps of the HBV life cycle. In patients,YBX1expression robustly correlates with both HBV load and liver disease progression.ConclusionOur cell-based reporter assay enables the discovery of HBV cccDNA host factors including YBX1 and is suitable for the characterisation of cccDNA-related host factors, antiviral targets and compounds.

Published
2022

31. Cell-based cccDNA reporter assay combined with functional genomics identifies YBX1 as HBV cccDNA host factor and antiviral candidate target

Author

Verrier, Eloi R, primary, Ligat, Gaëtan, additional, Heydmann, Laura, additional, Doernbrack, Katharina, additional, Miller, Julija, additional, Maglott-Roth, Anne, additional, Jühling, Frank, additional, El Saghire, Houssein, additional, Heuschkel, Margaux J, additional, Fujiwara, Naoto, additional, Hsieh, Sen-Yung, additional, Hoshida, Yujin, additional, Root, David E, additional, Felli, Emanuele, additional, Pessaux, Patrick, additional, Mukherji, Atish, additional, Mailly, Laurent, additional, Schuster, Catherine, additional, Brino, Laurent, additional, Nassal, Michael, additional, and Baumert, Thomas F., additional

Published
2022
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32. Databases in Human and Medical Genetics

Author

Pagon, Roberta A., Hamosh, Ada, Dunnen, Johan den, Firth, Helen V., Maglott, Donna R., Sherry, Stephen T., Feolo, Michael, Cooper, David, Stenson, Peter, Speicher, Michael R., editor, Motulsky, Arno G., editor, and Antonarakis, Stylianos E., editor

Published
2010
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34. RefSeq: an update on mammalian reference sequences.

Author

Kim D. Pruitt, Garth R. Brown, Susan M. Hiatt, Françoise Thibaud-Nissen, Alexander Astashyn, Olga D. Ermolaeva, Catherine M. Farrell, Jennifer Hart, Melissa J. Landrum, Kelly M. McGarvey, Michael R. Murphy, Nuala A. O'Leary, Shashikant Pujar, Bhanu Rajput, Sanjida H. Rangwala, Lillian D. Riddick, Andrei Shkeda, Hanzhen Sun, Pamela Tamez, Raymond E. Tully, Craig Wallin, David Webb, Janet Weber, Wendy Wu, Michael DiCuccio, Paul A. Kitts, Donna R. Maglott, Terence D. Murphy, and James M. Ostell

Published
2014
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36. Cell-based cccDNA reporter assay combined with functional genomics identifies YBX1 as HBV cccDNA host factor and antiviral candidate target.

Author

Verrier, Eloi R., Ligat, Gaëtan, Heydmann, Laura, Doernbrack, Katharina, Miller, Julija, Maglott-Roth, Anne, Jühling, Frank, El Saghire, Houssein, Heuschkel, Margaux J., Fujiwara, Naoto, Sen-Yung Hsieh, Hoshida, Yujin, Root, David E., Felli, Emanuele, Pessaux, Patrick, Mukherji, Atish, Mailly, Laurent, Schuster, Catherine, Brino, Laurent, and Nassal, Michael

Subjects
FUNCTIONAL genomics, HEPATITIS B virus, FETAL hemoglobin, CHRONIC hepatitis B, HEPATITIS D virus, HEPATITIS B vaccines, PROLIFERATING cell nuclear antigen, HUMAN life cycle
Published
2023
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38. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.

Author

Wendy S. Rubinstein, Donna R. Maglott, Jennifer M. Lee, Brandi L. Kattman, Adriana J. Malheiro, Michael Ovetsky, Vichet Hem, Vyatcheslav Gorelenkov, Guangfeng Song, Craig Wallin, Nora Husain, Shanmuga Chitipiralla, Kenneth S. Katz, Douglas Hoffman, Wonhee Jang, Mark Johnson, Fedor Karmanov, Alexander Ukrainchik, Mikhail Denisenko, Cathy Fomous, Kathy Hudson, and James Ostell

Published
2013
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40. Mondo: Unifying diseases for the world, by the world

Author

Nicole A Vasilevsky, Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni, Gioconda F Alyea, Joanna S Amberger, Larry Babb, James P Balhoff, Taylor I Bingaman, Gully A Burns, Orion J Buske, Tiffany J Callahan, Leigh C Carmody, Paula Carrio Cordo, Lauren E Chan, George S Chang, Sean L Christiaens, Michel Dumontier, Laura E Failla, May J Flowers, H. Alpha Garrett, Jennifer L Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L Harris, Jason A Hilton, Daniel S Himmelstein, Charles Tapley Hoyt, Megan S Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna R Maglott, Adriana J Malheiro, Birgit H M Meldal, Monica C Munoz-Torres, Tristan H Nelson, Frank W Nicholas, David Ochoa, Daniel P Olson, Tudor I Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L Rehm, Lyubov Remennik, Erin R Riggs, Paola Roncaglia, Justyne E Ross, Marion F Shadbolt, Kent A Shefchek, Morgan N Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L Storm, Doron Stupp, Gregory S Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, Darin Tay, Courtney L Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H Wagner, Danielle Welter, Patricia L Whetzel, Lori L Whiteman, Valerie Wood, Colleen H Xu, Andreas Zankl, Xingmin Aaron Zhang, Christopher G Chute, Peter N Robinson, Christopher J Mungall, Ada Hamosh, and Melissa A Haendel

Abstract

There are thousands of distinct disease entities and concepts, each of which are known by different and sometimes contradictory names. The lack of a unified system for managing these entities poses a major challenge for both machines and humans that need to harmonize information to better predict causes and treatments for disease. The Mondo Disease Ontology is an open, community-driven ontology that integrates key medical and biomedical terminologies, supporting disease data integration to improve diagnosis, treatment, and translational research. Mondo records the sources of all data and is continually updated, making it suitable for research and clinical applications that require up-to-date disease knowledge.

Published
2022
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41. Database resources of the National Center for Biotechnology Information.

Author

Eric W. Sayers, Tanya Barrett, Dennis A. Benson, Evan Bolton, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Scott Federhen, Michael Feolo, Ian M. Fingerman, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, Sergey Krasnov, David Landsman, David J. Lipman, Zhiyong Lu, Thomas L. Madden, Tom Madej, Donna R. Maglott, Aron Marchler-Bauer, Vadim Miller, Ilene Karsch-Mizrachi, James Ostell, Anna R. Panchenko, Lon Phan, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Stephen T. Sherry, Martin Shumway, Karl Sirotkin, Douglas J. Slotta, Alexandre Souvorov, Grigory Starchenko, Tatiana A. Tatusova, Lukas Wagner 0002, Yanli Wang, W. John Wilbur, Eugene Yaschenko, and Jian Ye

Published
2012
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44. Database resources of the National Center for Biotechnology Information.

Author

Eric W. Sayers, Tanya Barrett, Dennis A. Benson, Evan Bolton, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Scott Federhen, Michael Feolo, Ian M. Fingerman, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, David Landsman, David J. Lipman, Zhiyong Lu, Thomas L. Madden, Tom Madej, Donna R. Maglott, Aron Marchler-Bauer, Vadim Miller, Ilene Mizrachi, James Ostell, Anna R. Panchenko, Lon Phan, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Stephen T. Sherry, Martin Shumway, Karl Sirotkin, Douglas J. Slotta, Alexandre Souvorov, Grigory Starchenko, Tatiana A. Tatusova, Lukas Wagner 0002, Yanli Wang, W. John Wilbur, Eugene Yaschenko, and Jian Ye

Published
2011
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45. Database resources of the National Center for Biotechnology Information.

Author

Eric W. Sayers, Tanya Barrett, Dennis A. Benson, Evan Bolton, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Scott Federhen, Michael Feolo, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, David Landsman, David J. Lipman, Zhiyong Lu, Thomas L. Madden, Tom Madej, Donna R. Maglott, Aron Marchler-Bauer, Vadim Miller, Ilene Mizrachi, James Ostell, Anna R. Panchenko, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Stephen T. Sherry, Martin Shumway, Karl Sirotkin, Douglas J. Slotta, Alexandre Souvorov, Grigory Starchenko, Tatiana A. Tatusova, Lukas Wagner 0002, Yanli Wang, W. John Wilbur, Eugene Yaschenko, and Jian Ye

Published
2010
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47. Mondo: Unifying diseases for the world, by the world

Author

Vasilevsky, Nicole A, primary, Matentzoglu, Nicolas A, additional, Toro, Sabrina, additional, Flack, Joseph E, additional, Hegde, Harshad, additional, Unni, Deepak R, additional, Alyea, Gioconda F, additional, Amberger, Joanna S, additional, Babb, Larry, additional, Balhoff, James P, additional, Bingaman, Taylor I, additional, Burns, Gully A, additional, Buske, Orion J, additional, Callahan, Tiffany J, additional, Carmody, Leigh C, additional, Cordo, Paula Carrio, additional, Chan, Lauren E, additional, Chang, George S, additional, Christiaens, Sean L, additional, Dumontier, Michel, additional, Failla, Laura E, additional, Flowers, May J, additional, Garrett, H. Alpha, additional, Goldstein, Jennifer L, additional, Gration, Dylan, additional, Groza, Tudor, additional, Hanauer, Marc, additional, Harris, Nomi L, additional, Hilton, Jason A, additional, Himmelstein, Daniel S, additional, Hoyt, Charles Tapley, additional, Kane, Megan S, additional, Köhler, Sebastian, additional, Lagorce, David, additional, Lai, Abbe, additional, Larralde, Martin, additional, Lock, Antonia, additional, López Santiago, Irene, additional, Maglott, Donna R, additional, Malheiro, Adriana J, additional, Meldal, Birgit H M, additional, Munoz-Torres, Monica C, additional, Nelson, Tristan H, additional, Nicholas, Frank W, additional, Ochoa, David, additional, Olson, Daniel P, additional, Oprea, Tudor I, additional, Osumi-Sutherland, David, additional, Parkinson, Helen, additional, Pendlington, Zoë May, additional, Rath, Ana, additional, Rehm, Heidi L, additional, Remennik, Lyubov, additional, Riggs, Erin R, additional, Roncaglia, Paola, additional, Ross, Justyne E, additional, Shadbolt, Marion F, additional, Shefchek, Kent A, additional, Similuk, Morgan N, additional, Sioutos, Nicholas, additional, Smedley, Damian, additional, Sparks, Rachel, additional, Stefancsik, Ray, additional, Stephan, Ralf, additional, Storm, Andrea L, additional, Stupp, Doron, additional, Stupp, Gregory S, additional, Sundaramurthi, Jagadish Chandrabose, additional, Tammen, Imke, additional, Tay, Darin, additional, Thaxton, Courtney L, additional, Valasek, Eloise, additional, Valls-Margarit, Jordi, additional, Wagner, Alex H, additional, Welter, Danielle, additional, Whetzel, Patricia L, additional, Whiteman, Lori L, additional, Wood, Valerie, additional, Xu, Colleen H, additional, Zankl, Andreas, additional, Zhang, Xingmin Aaron, additional, Chute, Christopher G, additional, Robinson, Peter N, additional, Mungall, Christopher J, additional, Hamosh, Ada, additional, and Haendel, Melissa A, additional

Published
2022
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49. Database resources of the National Center for Biotechnology Information.

Author

Eric W. Sayers, Tanya Barrett, Dennis A. Benson, Stephen H. Bryant, Kathi Canese, Vyacheslav Chetvernin, Deanna M. Church, Michael DiCuccio, Ron Edgar, Scott Federhen, Michael Feolo, Lewis Y. Geer, Wolfgang Helmberg, Yuri Kapustin, David Landsman, David J. Lipman, Thomas L. Madden, Donna R. Maglott, Vadim Miller, Ilene Karsch-Mizrachi, James Ostell, Kim D. Pruitt, Gregory D. Schuler, Edwin Sequeira, Stephen T. Sherry, Martin Shumway, Karl Sirotkin, Alexandre Souvorov, Grigory Starchenko, Tatiana A. Tatusova, Lukas Wagner 0002, Eugene Yaschenko, and Jian Ye

Published
2009
Full Text
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