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1. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Author

Baliakas, Panagiotis, Blombery, Piers, Fox, Lucy C., Donadieu, Jean, Rio-Machin, Ana, Steinberg-Shemer, Orna, Morgan, Neil V., Ngeow, Joanne Y. Y., Skokowa, Julia, Pinese, Mark, Cowley, Mark J., Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Lin, Xuzhu, Spinelli, Sam J., Venugopal, Parvathy, Babic, Milena, Brautigan, Peter J., Truong, Lynda, Arriola-Martinez, Luis, Moore, Sarah, Hollins, Rachel, Parker, Wendy T., Nguyen, Hung, Kassahn, Karin S., Branford, Susan, Feurstein, Simone, Larcher, Lise, Sicre de Fontbrune, Flore, Demirdas, Serwet, de Munnik, Sonja, Antoine-Poirel, Hélène, Brichard, Benedicte, Mansour, Sahar, Gordon, Kristiana, Wlodarski, Marcin W., Koppayi, Ashwin, Dobbins, Sara, Mutsaers, Pim G. N. J., Nichols, Kim E., Oak, Ninad, DeMille, Desiree, Mao, Rong, Crawford, Ali, McCarrier, Julie, Basel, Donald, Flores-Daboub, Josue, Drazer, Michael W., Phillips, Kerry, Poplawski, Nicola K., Birdsey, Graeme M., Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy A., Ross, David M., Hiwase, Devendra K., Soulier, Jean, Brown, Anna L., Carmichael, Catherine L., Scott, Hamish S., and Hahn, Christopher N.

Published
2024
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2. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Author

Zerella, Jiarna R., Homan, Claire C., Arts, Peer, Lin, Xuzhu, Spinelli, Sam J., Venugopal, Parvathy, Babic, Milena, Brautigan, Peter J., Truong, Lynda, Arriola-Martinez, Luis, Moore, Sarah, Hollins, Rachel, Parker, Wendy T., Nguyen, Hung, Kassahn, Karin S., Branford, Susan, Feurstein, Simone, Larcher, Lise, Sicre de Fontbrune, Flore, Demirdas, Serwet, de Munnik, Sonja, Antoine-Poirel, Hélène, Brichard, Benedicte, Mansour, Sahar, Gordon, Kristiana, Baliakas, Panagiotis, Blombery, Piers, Fox, Lucy C., Donadieu, Jean, Rio-Machin, Ana, Steinberg-Shemer, Orna, Morgan, Neil V., Ngeow, Joanne Y. Y., Skokowa, Julia, Pinese, Mark, Cowley, Mark J., Wlodarski, Marcin W., Koppayi, Ashwin, Dobbins, Sara, Mutsaers, Pim G. N. J., Nichols, Kim E., Oak, Ninad, DeMille, Desiree, Mao, Rong, Crawford, Ali, McCarrier, Julie, Basel, Donald, Flores-Daboub, Josue, Drazer, Michael W., Phillips, Kerry, Poplawski, Nicola K., Birdsey, Graeme M., Pirri, Daniela, Ostergaard, Pia, Simons, Annet, Godley, Lucy A., Ross, David M., Hiwase, Devendra K., Soulier, Jean, Brown, Anna L., Carmichael, Catherine L., Scott, Hamish S., and Hahn, Christopher N.

Abstract

•Germ line ERG LOF variants predispose to cytopenias and HMs.•Somatic genetic rescue of ERG pathogenic variants in hematopoietic tissues impacts diagnosis, disease severity, and potential for correction.

Published
2024
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3. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

Author

Lozano, María Luisa, Cook, Aaron, Bastida, José María, Paul, David S., Iruin, Gemma, Cid, Ana Rosa, Adan-Pedroso, Rosa, Ramón González-Porras, José, Hernández-Rivas, Jesús María, Fletcher, Sarah J., Johnson, Ben, Morgan, Neil, Ferrer-Marin, Francisca, Vicente, Vicente, Sondek, John, Watson, Steve P., Bergmeier, Wolfgang, and Rivera, José

Published
2016
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4. Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1, GATA2 and DDX41

Author

Brown, Anna L., primary, Homan, Claire, additional, Drazer, Michael W., additional, Yu, Kai, additional, Lawrence, David, additional, Feng, Jinghua, additional, Arriola-Martinez, Luis, additional, Pozsgai, Matthew, additional, McNeely, Kelsey, additional, Ha, Thuong, additional, Venugopal, Parvathy, additional, Arts, Peer, additional, King-Smith, Sarah, additional, Cheah, Jesse JC, additional, Armstrong, Mark, additional, Bödör, Csaba, additional, Wang, Paul, additional, Cantor, Alan B., additional, Cazzola, Mario, additional, Degelman, Erin, additional, DiNardo, Courtney D., additional, Duployez, Nicolas, additional, Favier, Remi, additional, Fröhling, Stefan, additional, Rio-Machin, Ana, additional, Klco, Jeffery M., additional, Krämer, Alwin, additional, Kurokawa, Mineo, additional, Lee, Joanne, additional, Malcovati, Luca, additional, Morgan, Neil V, additional, Natsoulis, Georges, additional, Owen, Carolyn, additional, Patel, Keyur P., additional, Preudhomme, Claude, additional, Raslova, Hana, additional, Rienhoff, Hugh Young, additional, Ripperger, Tim, additional, Schulte, Rachael, additional, Tawana, Kiran, additional, Velloso, Elvira Deolinda Rodrigues Pereira, additional, Yan, Benedict, additional, Sood, Raman, additional, Hsu, Amy, additional, Holland, Steven M., additional, Phillips, Kerry, additional, Poplawski, Nicola, additional, Babic, Milena, additional, Kwon Kim, Erika M, additional, Wei, Andrew H., additional, Forsyth, Cecily, additional, Mar Fan, Helen, additional, Lewis, Ian D, additional, Cooney, Julian, additional, Susman, Rachel, additional, Fox, Lucy C, additional, Blombery, Piers, additional, Singhal, Deepak, additional, Hiwase, Devendra, additional, Schreiber, Andreas W, additional, Hahn, Christopher N, additional, Scott, Hamish S, additional, Liu, Paul P., additional, and Godley, Lucy A., additional

Published
2022
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6. Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1, GATA2and DDX41

Author

Brown, Anna L., Homan, Claire, Drazer, Michael W., Yu, Kai, Lawrence, David, Feng, Jinghua, Arriola-Martinez, Luis, Pozsgai, Matthew, McNeely, Kelsey, Ha, Thuong, Venugopal, Parvathy, Arts, Peer, King-Smith, Sarah, Cheah, Jesse JC, Armstrong, Mark, Bödör, Csaba, Wang, Paul, Cantor, Alan B., Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Rio-Machin, Ana, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V, Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh Young, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira Deolinda Rodrigues Pereira, Yan, Benedict, Sood, Raman, Hsu, Amy, Holland, Steven M., Phillips, Kerry, Poplawski, Nicola, Babic, Milena, Kwon Kim, Erika M, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Lewis, Ian D, Cooney, Julian, Susman, Rachel, Fox, Lucy C, Blombery, Piers, Singhal, Deepak, Hiwase, Devendra, Schreiber, Andreas W, Hahn, Christopher N, Scott, Hamish S, Liu, Paul P., and Godley, Lucy A.

Published
2022
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8. Germline TET2 loss of function causes childhood immunodeficiency and lymphoma

Author

Stremenova Spegarova, Jarmila, primary, Lawless, Dylan, additional, Mohamad, Siti Mardhiana Binti, additional, Engelhardt, Karin R., additional, Doody, Gina, additional, Shrimpton, Jennifer, additional, Rensing-Ehl, Anne, additional, Ehl, Stephan, additional, Rieux-Laucat, Frederic, additional, Cargo, Catherine, additional, Griffin, Helen, additional, Mikulasova, Aneta, additional, Acres, Meghan, additional, Morgan, Neil V., additional, Poulter, James A., additional, Sheridan, Eamonn G., additional, Chetcuti, Philip, additional, O'Riordan, Sean, additional, Anwar, Rashida, additional, Carter, Clive R., additional, Przyborski, Stefan, additional, Windebank, Kevin, additional, Cant, Andrew J., additional, Lako, Majlinda, additional, Bacon, Chris M., additional, Savic, Sinisa, additional, and Hambleton, Sophie, additional

Published
2020
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11. Association of complementation group and mutation type with clinical outcome in Fanconi anemia

Author

Faivre, Laurence, Guardiola, Philippe, Lewis, Cathryn, Dokal, Inderjeet, Ebell, Wolfram, Zatterale, Ariana, Altay, Cigdem, Poole, Janet, Stones, David, Kwee, Mei Lan, van Weel-Sipman, Margreet, Havenga, Charmaine, Morgan, Neil, de Winter, Johan, Digweed, Martin, Savoia, Anna, Pronk, Jan, de Ravel, Thomas, Jansen, Stander, Joenje, Hans, Gluckman, Eliane, and Mathew, Christopher G.

Published
2000
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12. Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB

Author

Brown, Anna L., primary, Armstrong, Mark, additional, Lawrence, David, additional, Wang, Paul, additional, Arts, Peer, additional, Duployez, Nicolas, additional, Churpek, Jane, additional, Tawana, Kiran, additional, Degelman, Erin, additional, Natsoulis, Georges, additional, Guzman, Monica L., additional, Patnaik, Mrinal M., additional, Shimamura, Akiko, additional, Cantor, Alan B., additional, Ripperger, Tim, additional, Schlegelberger, Brigitte, additional, Steinemann, Doris, additional, DiNardo, Courtney D., additional, Mecucci, Cristina, additional, Velloso, Elvira DRP, additional, Santos, Fabio PS, additional, Silva, Marcela CA, additional, Borate, Uma, additional, McWeeney, Shannon K., additional, Nalepa, Grzegorz, additional, Ragg, Susanne, additional, Kwon, Erika Mijin, additional, Agarwal, Anupriya, additional, Langabeer, Stephen, additional, Klco, Jeffery M., additional, Yang, Jun J., additional, Forsyth, Cecily, additional, Mapp, Sally, additional, Mar Fan, Helen, additional, Rawlings, Lesley, additional, Susman, Rachel, additional, Morgan, Sue, additional, Wei, Andrew H, additional, Dokal, Inderjeet, additional, Vulliamy, Tom, additional, Hiwase, Devendra K, additional, Singhal, Deepak, additional, Branford, Susan, additional, Papaemmanuil, Elli, additional, Soulier, Jean, additional, Fröhling, Stefan, additional, Kramer, Alwin, additional, Sauvageau, Guy, additional, Morgan, Neil, additional, Owen, Carolyn, additional, Bödör, Csaba, additional, Fitzgibbon, Jude, additional, Rienhoff, Hugh Y., additional, Kurokawa, Mineo, additional, Godley, Lucy, additional, Preudhomme, Claude, additional, Liu, Paul P, additional, Poplawski, Nicola, additional, Hahn, Christopher N., additional, and Scott, Hamish S., additional

Published
2018
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13. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

Author

Lozano, María Luisa, Cook, Aaron, Bastida, José María, Paul, David S., Iruin, Gemma, Cid, Ana Rosa, Adan-Pedroso, Rosa, Ramón González-Porras, José, Hernández-Rivas, Jesús María, Fletcher, Sarah J., Johnson, Ben, Morgan, Neil, Ferrer-Marin, Francisca, Vicente, Vicente, Sondek, John, Watson, Steve P., Bergmeier, Wolfgang, and Rivera, José

Subjects
Blood Platelets, Male, Platelet Membrane Glycoprotein IIb, Platelet Aggregation, Secretory Vesicles, Integrin beta3, Mutation, Missense, High-Throughput Nucleotide Sequencing, rap1 GTP-Binding Proteins, Exons, Middle Aged, Platelets and Thrombopoiesis, Platelet Activation, Enzyme Activation, Amino Acid Substitution, Guanine Nucleotide Exchange Factors, Humans, Female, Child, Thrombasthenia
Abstract

In addition to mutations in ITG2B or ITGB3 genes that cause defective αIIbβ3 expression and/or function in Glanzmann's thrombasthenia patients, platelet dysfunction can be a result of genetic variability in proteins that mediate inside-out activation of αIIbβ3 The RASGRP2 gene is strongly expressed in platelets and neutrophils, where its encoded protein CalDAG-GEFI facilitates the activation of Rap1 and subsequent activation of integrins. We used next-generation sequencing (NGS) and whole-exome sequencing (WES) to identify 2 novel function-disrupting mutations in RASGRP2 that account for bleeding diathesis and platelet dysfunction in 2 unrelated families. By using a panel of 71 genes, we identified a homozygous change (c.1142CT) in exon 10 of RASGRP2 in a 9-year-old child of Chinese origin (family 1). This variant led to a p.Ser381Phe substitution in the CDC25 catalytic domain of CalDAG-GEFI. In 2 Spanish siblings from family 2, WES identified a nonsense homozygous variation (c.337CT) (p.Arg113X) in exon 5 of RASGRP2 CalDAG-GEFI expression was markedly reduced in platelets from all patients, and by using a novel in vitro assay, we found that the nucleotide exchange activity was dramatically reduced in CalDAG-GEFI p.Ser381Phe. Platelets from homozygous patients exhibited agonist-specific defects in αIIbβ3 integrin activation and aggregation. In contrast, α- and δ-granule secretion, platelet spreading, and clot retraction were not markedly affected. Integrin activation in the patients' neutrophils was also impaired. These patients are the first cases of a CalDAG-GEFI deficiency due to homozygous RASGRP2 mutations that are linked to defects in both leukocyte and platelet integrin activation.

Published
2015

18. Enrichment of FLI1and RUNX1mutations in families with excessive bleeding and platelet dense granule secretion defects

Author

Stockley, Jacqueline, Morgan, Neil V., Bem, Danai, Lowe, Gillian C., Lordkipanidzé, Marie, Dawood, Ban, Simpson, Michael A., Macfarlane, Kirsty, Horner, Kevin, Leo, Vincenzo C., Talks, Katherine, Motwani, Jayashree, Wilde, Jonathan T., Collins, Peter W., Makris, Michael, Watson, Steve P., and Daly, Martina E.

Abstract

We analyzed candidate platelet function disorder genes in 13 index cases with a history of excessive bleeding in association with a significant reduction in dense granule secretion and impaired aggregation to a panel of platelet agonists. Five of the index cases also had mild thrombocytopenia. Heterozygous alterations in FLI1and RUNX1, encoding Friend leukemia integration 1 and RUNT-related transcription factor 1, respectively, which have a fundamental role in megakaryocytopoeisis, were identified in 6 patients, 4 of whom had mild thrombocytopenia. Two FLI1alterations predicting p.Arg337Trp and p.Tyr343Cys substitutions in the FLI1 DNA-binding domain abolished transcriptional activity of FLI1. A 4-bp deletion in FLI1, and 2 splicing alterations and a nonsense variation in RUNX1, which were predicted to cause haploinsufficiency of either FLI1 or RUNX1, were also identified. Our findings suggest that alterations in FLI1and RUNX1may be common in patients with platelet dense granule secretion defects and mild thrombocytopenia.

Published
2013
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