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Select item 112356171.

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study

Merelijne A. Verschoof, Laura C. C. van Meenen, M. Valérie E. Andriessen, Daniëlle M. C. Brinkman, Sylvia Kamphuis, Taco W. Kuijpers, Helen L. Leavis, G. Elizabeth Legger, Catharina M. Mulders‐Manders, Anne P. J. de Pagter, Abraham Rutgers, Gijs T. J. van Well, Jonathan M. Coutinho, A. Elisabeth Hak, Joris M. van Montfrans, Femke C. C. Klouwer

Eur J Neurol. 2024 Jan; 31(1): e16043. Published online 2023 Aug 29. doi: 10.1111/ene.16043

PMCID:: PMC11235617

Abstract Article PDF–639K

Select item 111076962.

Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells

Yuliia Kaljas, Chengqian Liu, Maksym Skaldin, Chengxiang Wu, Qing Zhou, Yuanan Lu, Ivona Aksentijevich, Andrey V. Zavialov

Cell Mol Life Sci. 2017 Feb; 74(3): 555–570. Published online 2016 Sep 23. doi: 10.1007/s00018-016-2357-0

PMCID:: PMC11107696

Abstract Article PDF–5.9M

Select item 104877383.

Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019

Agata Jedrzejewska, Ada Kawecka, Alicja Braczko, Marzena Romanowska-Kocejko, Klaudia Stawarska, Milena Deptuła, Małgorzata Zawrzykraj, Marika Franczak, Oliwia Krol, Gabriela Harasim, Iga Walczak, Michał Pikuła, Marcin Hellmann, Barbara Kutryb-Zając

Int J Mol Sci. 2023 Sep; 24(17): 13140. Published online 2023 Aug 24. doi: 10.3390/ijms241713140

PMCID:: PMC10487738

Abstract Article PDF–2.5M

Select item 102658904.

A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran

Kosar Asna Ashari, Nahid Aslani, Nima Parvaneh, Raheleh Assari, Morteza Heidari, Mohammadreza Fathi, Fatemeh Tahghighi Sharabian, Alireza Ronagh, Mohammad Shahrooei, Alireza Moafi, Nima Rezaei, Vahid Ziaee

Pediatr Rheumatol Online J. 2023; 21: 55. Published online 2023 Jun 13. doi: 10.1186/s12969-023-00838-3

PMCID:: PMC10265890

Abstract Article PDF–799K

Select item 101107245.

A Cohort Study on Deficiency of ADA2 from China

Guo-min Li, Xu Han, Ye Wu, Wei Wang, Hong-xia Tang, Mei-ping Lu, Xue-mei Tang, Yi Lin, Fan Deng, Jun Yang, Xin-ning Wang, Cong-cong Liu, Wen-jie Zheng, Bing-bing Wu, Fang Zhou, Hong Luo, Liang Zhang, Hai-mei Liu, Wan-zhen Guan, Shi-hao Wang, Pan-feng Tao, Tai-jie Jin, Ran Fang, Yuan Wu, Jie Zhang, Yao Zhang, Tian-nan Zhang, Wei Yin, Li Guo, Wen-jing Tang, Hong Chang, Qiu-ye Zhang, Xiao-zhong Li, Jian-guo Li, Zhi-xuan Zhou, Si-rui Yang, Kang-kang Yang, Hong Xu, Hong-mei Song, Natalie T. Deuitch, Pui Y. Lee, Qing Zhou, Li Sun

J Clin Immunol. 2023; 43(4): 835–845. Published online 2023 Feb 18. doi: 10.1007/s10875-023-01432-8

PMCID:: PMC10110724

Abstract Article PDF–993K

Select item 99458806.

Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2

Oskar Schnappauf, Natalia Sampaio Moura, Ivona Aksentijevich, Monique Stoffels, Amanda K. Ombrello, Patrycja Hoffmann, Karyl Barron, Elaine F. Remmers, Michael Hershfield, Susan J. Kelly, NISC Comparative Sequencing Program, David Cuthbertson, Simon Carette, Sharon A. Chung, Lindsy Forbess, Nader A. Khalidi, Curry L. Koening, Carol A. Langford, Carol A. McAlear, Paul A. Monach, Larry Moreland, Christian Pagnoux, Philip Seo, Jason M. Springer, Antoine G. Sreih, Kenneth J. Warrington, Steven R. Ytterberg, Daniel L. Kastner, Peter C. Grayson, Peter A. Merkel, Vasculitis Clinical Research Consortium

Arthritis Rheumatol. Author manuscript; available in PMC 2023 Feb 22.

Published in final edited form as: Arthritis Rheumatol. 2021 Mar; 73(3): 512–519. Published online 2021 Feb 3. doi: 10.1002/art.41549

PMCID:: PMC9945880

Abstract Article PDF–250K

Select item 93093287.

Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity

Sara Signa, Arinna Bertoni, Federica Penco, Roberta Caorsi, Alessia Cafaro, Giuliana Cangemi, Stefano Volpi, Marco Gattorno, Francesca Schena

Front Immunol. 2022; 13: 935957. Published online 2022 Jul 11. doi: 10.3389/fimmu.2022.935957

PMCID:: PMC9309328

Abstract Article PDF–1.5M

Select item 91107838.

Deficiency of Human Adenosine Deaminase Type 2 – A Diagnostic Conundrum for the Hematologist

Rakesh Kumar Pilania, Aaqib Zaffar Banday, Saniya Sharma, Rajni Kumrah, Vibhu Joshi, Sathish Loganathan, Manpreet Dhaliwal, Ankur Kumar Jindal, Pandiarajan Vignesh, Deepti Suri, Amit Rawat, Surjit Singh

Front Immunol. 2022; 13: 869570. Published online 2022 May 3. doi: 10.3389/fimmu.2022.869570

PMCID:: PMC9110783

Abstract Article PDF–2.6M

Select item 87909319.

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort

Karyl S. Barron, Ivona Aksentijevich, Natalie T. Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird, Ariane Soldatos, Jenna Bergerson, Camilo Toro, Cornelia Cudrici, Michele Nehrebecky, Tina Romeo, Anne Jones, Manfred Boehm, Jennifer A. Kanakry, Dimana Dimitrova, Katherine R. Calvo, Hawwa Alao, Devika Kapuria, Gil Ben-Yakov, Dominique C. Pichard, Londa Hathaway, Alessandra Brofferio, Elisa McRae, Natalia Sampaio Moura, Oskar Schnappauf, Sofia Rosenzweig, Theo Heller, Edward W. Cowen, Daniel L. Kastner, Amanda K. Ombrello

Front Immunol. 2021; 12: 811473. Published online 2022 Jan 10. doi: 10.3389/fimmu.2021.811473

PMCID:: PMC8790931

Abstract Article PDF–9.0M

Select item 860624710.

Adenosine deaminase 2 produced by infiltrative monocytes promotes liver fibrosis in nonalcoholic fatty liver disease

Shilpa Tiwari-Heckler, Eric U. Yee, Yusuf Yalcin, Jiwoon Park, Duc-Huy T. Nguyen, Wenda Gao, Eva Csizmadia, Nezam Afdhal, Kenneth J. Mukamal, Simon C. Robson, Michelle Lai, Robert E. Schwartz, Z. Gordon Jiang

Cell Rep. Author manuscript; available in PMC 2021 Nov 21.

Published in final edited form as: Cell Rep. 2021 Oct 26; 37(4): 109897. doi: 10.1016/j.celrep.2021.109897

PMCID:: PMC8606247

Abstract Article PDF–2.0M

Select item 855200911.

Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure

Gianluca Dell’Orso, Alice Grossi, Federica Penco, Roberta Caorsi, Elena Palmisani, Paola Terranova, Francesca Schena, Michela Lupia, Erica Ricci, Shana Montalto, Filomena Pierri, Isabella Ceccherini, Francesca Fioredda, Carlo Dufour, Marco Gattorno, Maurizio Miano

Front Immunol. 2021; 12: 754029. Published online 2021 Oct 14. doi: 10.3389/fimmu.2021.754029

PMCID:: PMC8552009

Abstract Article PDF–529K

Select item 834827612.

A Novel Germline Mutation of ADA2 Gene in Two “Discordant” Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype

Silvia Vai, Erika Marin, Roberta Cosso, Francesco Saettini, Sonia Bonanomi, Alessandro Cattoni, Iacopo Chiodini, Luca Persani, Alberto Falchetti

Int J Mol Sci. 2021 Aug; 22(15): 8331. Published online 2021 Aug 3. doi: 10.3390/ijms22158331

PMCID:: PMC8348276

Abstract Article PDF–2.9M

Select item 816550213.

Deficiency of Adenosine Deaminase 2 (DADA2): One Disease, Several Faces

Pallavi Pimpale Chavan, Divya Ramadoss, Archana Khan, Pui Y. Lee, Raju Khubchandani

Indian J Pediatr. 2021; 88(8): 828–830. Published online 2021 May 31. doi: 10.1007/s12098-021-03809-2

PMCID:: PMC8165502

Article PDF–146K

Select item 816503014.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 806865815.

Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings

Li Guo, Jun Wang, Xinghui Yang, Rongjun Zheng, Natalie Deuitch, Panfeng Tao, Qing Zhou

J Clin Immunol. 2021; 41(4): 837–842. Published online 2021 Jan 30. doi: 10.1007/s10875-021-00981-0

PMCID:: PMC8068658

Article PDF–788K

Select item 803860016.

Macrophage-Derived Adenosine Deaminase 2 Correlates with M2 Macrophage Phenotype in Triple Negative Breast Cancer

Barbara Kutryb-Zajac, Gabriela Harasim, Agata Jedrzejewska, Oliwia Krol, Alicja Braczko, Patrycja Jablonska, Paulina Mierzejewska, Jacek Zielinski, Ewa M. Slominska, Ryszard. T. Smolenski

Int J Mol Sci. 2021 Apr; 22(7): 3764. Published online 2021 Apr 5. doi: 10.3390/ijms22073764

PMCID:: PMC8038600

Abstract Article PDF–5.3M

Select item 741691217.

Deficiency of Adenosine Deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance

Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl Barron, Deborah L. Stone, Patrycja Hoffmann, Michael Hershfield, Carolyn Applegate, Hans T. Bjornsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, NIH Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich

J Clin Immunol. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: J Clin Immunol. 2020 Aug; 40(6): 917–926. Published online 2020 Jul 8. doi: 10.1007/s10875-020-00817-3

PMCID:: PMC7416912

Abstract Article PDF–1.1M

Select item 694789718.

Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach

Maria I. Zervou, George N. Goulielmos, Michail Matalliotakis, Charoula Matalliotaki, Demetrios A. Spandidos, Elias Eliopoulos

Mol Med Rep. 2020 Feb; 21(2): 876–882. Published online 2019 Dec 5. doi: 10.3892/mmr.2019.10862

Correction in:: Mol Med Rep. 2021 Jul; 24(1): 489.

PMCID:: PMC6947897

Abstract Article PDF–1.2M

Select item 677813719.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 665925320.

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2

Carmelo Carmona-Rivera, Sami S. Khaznadar, Kyawt W. Shwin, Jorge A. Irizarry-Caro, Liam J. O’Neil, Yudong Liu, Kenneth A. Jacobson, Amanda K. Ombrello, Deborah L. Stone, Wanxia L. Tsai, Daniel L. Kastner, Ivona Aksentijevich, Mariana J. Kaplan, Peter C. Grayson

Blood. 2019 Jul 25; 134(4): 395–406. Prepublished online 2019 Apr 23. doi: 10.1182/blood.2018892752

PMCID:: PMC6659253

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