Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations

Authors: Gutierrez-Rodrigues, Fernanda, Groarke, Emma M., Thongon, Natthakan, Rodriguez-Sevilla, Juan Jose, Catto, Luiz Fernando B., Niewisch, Marena R., Shalhoub, Ruba, McReynolds, Lisa J., Clé, Diego V., Patel, Bhavisha A., Ma, Xiaoyang, Hironaka, Dalton, Donaires, Flávia S., Spitofsky, Nina, Santana, Barbara A., Lai, Tsung-Po, Alemu, Lemlem, Kajigaya, Sachiko, Darden, Ivana, Zhou, Weiyin, Browne, Paul V., Paul, Subrata, Lack, Justin, Young, David J., DiNardo, Courtney D., Aviv, Abraham, Ma, Feiyang, De Oliveira, Michel Michels, de Azambuja, Ana Paula, Dunbar, Cynthia E., Olszewska, Malgorzata, Olivier, Emmanuel, Papapetrou, Eirini P., Giri, Neelam, Alter, Blanche P., Bonfim, Carmem, Wu, Colin O., Garcia-Manero, Guillermo, Savage, Sharon A., Young, Neal S., Colla, Simona, Calado, Rodrigo T.

Source: In Blood 5 December 2024 144(23):2402-2416

Spectrum of clonal hematopoiesis in VEXAS syndrome

Authors: Gutierrez-Rodrigues, Fernanda, Kusne, Yael, Fernandez, Jenna, Lasho, Terra, Shalhoub, Ruba, Ma, Xiaoyang, Alessi, Hugh, Finke, Christy, Koster, Matthew J., Mangaonkar, Abhishek, Warrington, Kenneth J., Begna, Kebede, Xie, Zhuoer, Ombrello, Amanda K., Viswanatha, David, Ferrada, Marcela, Wilson, Lorena, Go, Ronald, Kourelis, Taxiarchis, Reichard, Kaaren, Olteanu, Horatiu, Darden, Ivana, Hironaka, Dalton, Alemu, Lemlem, Kajigaya, Sachiko, Rosenzweig, Sofia, Calado, Rodrigo T., Groarke, Emma M., Kastner, Daniel L., Calvo, Katherine R., Wu, Colin O., Grayson, Peter C., Young, Neal S., Beck, David B., Patel, Bhavisha A., Patnaik, Mrinal M.

Source: In Blood 20 July 2023 142(3):244-259

Differential diagnosis of bone marrow failure syndromes guided by machine learning

Authors: Gutierrez-Rodrigues, Fernanda, Munger, Eric, Ma, Xiaoyang, Groarke, Emma M., Tang, Youbao, Patel, Bhavisha A., Catto, Luiz Fernando B., Clé, Diego V., Niewisch, Marena R., Alves-Paiva, Raquel M., Donaires, Flávia S., Pinto, André Luiz, Borges, Gustavo, Santana, Barbara A., McReynolds, Lisa J., Giri, Neelam, Altintas, Burak, Fan, Xing, Shalhoub, Ruba, Siwy, Christopher M., Diamond, Carrie, Raffo, Diego Quinones, Craft, Kathleen, Kajigaya, Sachiko, Summers, Ronald M., Liu, Paul, Cunningham, Lea, Hickstein, Dennis D., Dunbar, Cynthia E., Pasquini, Ricardo, De Oliveira, Michel Michels, Velloso, Elvira D. R. P., Alter, Blanche P., Savage, Sharon A., Bonfim, Carmem, Wu, Colin O., Calado, Rodrigo T., Young, Neal S.

Source: In Blood 27 April 2023 141(17):2100-2113

Oligoclonal T-cell expansion in a patient with bone marrow failure after CD19 CAR-T therapy for Richter-transformed DLBCL

Authors: Rejeski, Kai, Wu, Zhijie, Blumenberg, Viktoria, Kunz, Wolfgang G., Müller, Susanna, Kajigaya, Sachiko, Gao, Shouguo, Bücklein, Veit L., Frölich, Lisa, Schmidt, Christian, von Bergwelt-Baildon, Michael, Feng, Xingmin, Young, Neal S., Subklewe, Marion

Source: Blood. 140(20):2175-2179

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183225249.0x000001&indx=1&recIds=ETOCvdc_100183225249.0x000001

Single‐cell profiling of T lymphocytes in deficiency of adenosine deaminase 2

Authors: Wu, Zhijie, Gao, Shouguo, Watanabe, Naoki, Batchu, Sai, Kajigaya, Sachiko, Diamond, Carrie, Alemu, Lemlem, Raffo, Diego Quinones, Feng, Xingmin, Hoffmann, Patrycja, Stone, Deborah, Ombrello, Amanda, Young, Neal S.

Source: Journal of leukocyte biology. 111(2):301-312

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139482991.0x000001&indx=1&recIds=ETOCvdc_100139482991.0x000001

HLA associations, somatic loss of HLA expression, and clinical outcomes in immune aplastic anemia

Authors: Zaimoku, Yoshitaka ^{*, *}, Patel, Bhavisha A. ^*, Adams, Sharon D., Shalhoub, Ruba, Groarke, Emma M., Lee, Audrey Ai Chin, Kajigaya, Sachiko, Feng, Xingmin, Rios, Olga Julia, Eager, Holly, Alemu, Lemlem, Quinones Raffo, Diego, Wu, Colin O., Flegel, Willy A., Young, Neal S.

Source: In Blood 30 December 2021 138(26):2799-2809

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single‐cell RNA sequencing of monocytes

Authors: Watanabe, Naoki, Gao, Shouguo, Wu, Zhijie, Batchu, Sai, Kajigaya, Sachiko, Diamond, Carrie, Alemu, Lemlem, Raffo, Diego Quinones, Hoffmann, Patrycja, Stone, Deborah, Ombrello, Amanda K., Young, Neal S.

Source: Journal of leukocyte biology. 110(3):409-424

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100128587354.0x000001&indx=1&recIds=ETOCvdc_100128587354.0x000001

Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency

Authors: Wu, Zhijie ^*, Gao, Shouguo ^*, Diamond, Carrie, Kajigaya, Sachiko, Chen, Jinguo, Shi, Rongye, Palmer, Cindy, Hsu, Amy P., Calvo, Katherine R., Hickstein, Dennis D., Holland, Steven M., Young, Neal S.

Source: In Blood Advances 23 June 2020 4(12):2702-2716

High throughput pSTAT signaling profiling by fluorescent cell barcoding and computational analysis

Authors: Tsai, Wanxia Li, Vian, Laura, Giudice, Valentina, Kieltyka, Jacqueline, Liu, Christine, Fonseca, Victoria, Gazaniga, Nathalia, Gao, Shouguo, Kajigaya, Sachiko, Young, Neal S., Biancotto, Angélique, Gadina, Massimo

Source: In Journal of Immunological Methods February 2020 477

Pathogenic TERT promoter variants in telomere diseases

Authors: Gutierrez-Rodrigues, Fernanda, Donaires, Flávia S., Pinto, André, Vicente, Alana, Dillon, Laura W., Clé, Diego V., Santana, Barbara A., Pirooznia, Mehdi, Ibanez, Maria del Pilar F., Townsley, Danielle M., Kajigaya, Sachiko, Hourigan, Christopher S., Cooper, James N., Calado, Rodrigo T., Young, Neal S.

Source: In Genetics in Medicine July 2019 21(7):1594-1602

Deficit of circulating CD19+CD24hiCD38hi regulatory B cells in severe aplastic anaemia

Authors: Zaimoku, Yoshitaka, Patel, Bhavisha A., Kajigaya, Sachiko, Feng, Xingmin, Alemu, Lemlem, Quinones Raffo, Diego, Groarke, Emma M., Young, Neal S.

Source: British journal of haematology. 190(4):610-617

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122574329.0x000001&indx=1&recIds=ETOCvdc_100122574329.0x000001

Interleukin-18 plays a dispensable role in murine and likely also human bone marrow failure

Authors: Wu, Zhijie, Giudice, Valentina, Chen, Jichun, Sun, Wanling, Lin, Zenghua, Keyvanfar, Keyvan, Talasani, Nidhi, Kajigaya, Sachiko, Feng, Xingmin, Young, Neal S.

Source: In Experimental Hematology January 2019 69:54-64

Aptamer-based proteomics of serum and plasma in acquired aplastic anemia

Authors: Giudice, Valentina, Biancotto, Angélique, Wu, Zhijie, Cheung, Foo, Candia, Julián, Fantoni, Giovanna, Kajigaya, Sachiko, Rios, Olga, Townsley, Danielle, Feng, Xingmin, Young, Neal S.

Source: In Experimental Hematology December 2018 68:38-50

PD-1 deficiency augments bone marrow failure in a minor-histocompatibility antigen mismatch lymphocyte infusion model

Authors: Hollinger, Maile K., Giudice, Valentina, Cummings, Nicole A., Rivell, Guillermo, Zhang, Hansheng, Kajigaya, Sachiko, Keyvanfar, Keyvan, Chen, Jichun, Feng, Xingmin ^*, Young, Neal S.

Source: In Experimental Hematology June 2018 62:17-23

Abnormal RNA splicing and genomic instability after induction of DNMT3A mutations by CRISPR/Cas9 gene editing

Authors: Banaszak, Lauren G., Giudice, Valentina, Zhao, Xin, Wu, Zhijie, Gao, Shouguo, Hosokawa, Kohei, Keyvanfar, Keyvan, Townsley, Danielle M., Gutierrez-Rodrigues, Fernanda, Fernandez Ibanez, Maria del Pilar, Kajigaya, Sachiko, Young, Neal S.

Source: In Blood Cells, Molecules and Diseases March 2018 69:10-22

Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms

Authors: Marsh, Judith C.W. ^*, Gutierrez-Rodrigues, Fernanda ^*, Cooper, James, Jiang, Jie, Gandhi, Shreyans, Kajigaya, Sachiko, Feng, Xingmin, Ibanez, Maria del Pilar F., Donaires, Flávia S., Lopes da Silva, João P., Li, Zejuan, Das, Soma, Ibanez, Maria, Smith, Alexander E., Lea, Nicholas, Best, Steven, Ireland, Robin, Kulasekararaj, Austin G., McLornan, Donal P., Pagliuca, Anthony, Callebaut, Isabelle, Young, Neal S., Calado, Rodrigo T., Townsley, Danielle M., Mufti, Ghulam J

Source: In Blood Advances 9 January 2018 2(1):36-48

A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation

Authors: Gutierrez-Rodrigues, Fernanda, Masri, Nohad, Chouery, Eliane, Diamond, Carrie, Jalkh, Nadine, Vicente, Alana, Kajigaya, Sachiko, Abillama, Fayez, Bejjani, Noha, Serhal, Wassim, Calado, Rodrigo T., Young, Neal S., Farhat, Hussein, Coussa, Marie Louise

Source: Human genetics. 138(11-12):1323-1330

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125868580.0x000001&indx=1&recIds=ETOCvdc_100125868580.0x000001

Circulating S100A8 and S100A9 protein levels in plasma of patients with acquired aplastic anemia and myelodysplastic syndromes

Authors: Giudice, Valentina, Wu, Zhijie, Kajigaya, Sachiko, Fernandez Ibanez, Maria del Pilar, Rios, Olga, Cheung, Foo, Ito, Sawa, Young, Neal S.

Source: Cytokine. 113:462-465

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100073407600.0x000001&indx=1&recIds=ETOCvdc_100073407600.0x000001

Single-cell RNA-seq reveals a distinct transcriptome signature of aneuploid hematopoietic cells

Authors: Zhao, Xin ^*, Gao, Shouguo ^*, Wu, Zhijie, Kajigaya, Sachiko, Feng, Xingmin, Liu, Qingguo, Townsley, Danielle M., Cooper, James, Chen, Jinguo, Keyvanfar, Keyvan, Fernandez Ibanez, Maria del Pilar, Wang, Xujing, Young, Neal S.

Source: In Blood 21 December 2017 130(25):2762-2773

Molecular Cloning of a Docking Protein, BRDG1, That Acts Downstream of the Tec Tyrosine Kinase

Authors: Ohya, Ken-ichi, Kajigaya, Sachiko, Kitanaka, Akira, Yoshida, Koji, Miyazato, Akira, Yamashita, Yoshihiro, Yamanaka, Takeo, Ikeda, Uichi, Shimada, Kazuyuki, Ozawa, Keiya, Mano, Hiroyuki

Source: Proceedings of the National Academy of Sciences of the United States of America, 1999 Oct 01. 96(21), 11976-11981.

Access URL: https://www.jstor.org/stable/48920