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15 results on '"Milne, Paul"'

2. Lineage switching of the cellular distribution of BRAFV600E in multisystem Langerhans cell histiocytosis

Author

Milne, Paul, Bomken, Simon, Slater, Olga, Kumar, Ashish, Nelson, Adam, Roy, Somak, Velazquez, Jessica, Mankad, Kshitij, Nicholson, James, Yeomanson, Dan, Grundy, Richard, Kamal, Ahmed, Penn, Anthony, Pears, Jane, Millen, Gerard, Morland, Bruce, Hayden, James, Lam, Jason, Madkhali, Maymoon, MacDonald, Jamie, Singh, Preeti, Pagan, Sarah, Rodriguez-Galindo, Carlos, Minkov, Milen, Donadieu, Jean, Picarsic, Jennifer, Allen, Carl, Bigley, Venetia, and Collin, Matthew

Published
2023
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3. Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia

Author

Tirtakusuma, Ricky, Szoltysek, Katarzyna, Milne, Paul, Grinev, Vasily V., Ptasinska, Anetta, Chin, Paulynn S., Meyer, Claus, Nakjang, Sirintra, Hehir-Kwa, Jayne Y., Williamson, Daniel, Cauchy, Pierre, Keane, Peter, Assi, Salam A., Ashtiani, Minoo, Kellaway, Sophie G., Imperato, Maria R., Vogiatzi, Fotini, Schweighart, Elizabeth K., Lin, Shan, Wunderlich, Mark, Stutterheim, Janine, Komkov, Alexander, Zerkalenkova, Elena, Evans, Paul, McNeill, Hesta, Elder, Alex, Martinez-Soria, Natalia, Fordham, Sarah E., Shi, Yuzhe, Russell, Lisa J., Pal, Deepali, Smith, Alex, Kingsbury, Zoya, Becq, Jennifer, Eckert, Cornelia, Haas, Oskar A., Carey, Peter, Bailey, Simon, Skinner, Roderick, Miakova, Natalia, Collin, Matthew, Bigley, Venetia, Haniffa, Muzlifah, Marschalek, Rolf, Harrison, Christine J., Cargo, Catherine A., Schewe, Denis, Olshanskaya, Yulia, Thirman, Michael J., Cockerill, Peter N., Mulloy, James C., Blair, Helen J., Vormoor, Josef, Allan, James M., Bonifer, Constanze, Heidenreich, Olaf, and Bomken, Simon

Published
2022
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5. Genome‐wide association study identifies the first germline genetic variant associated with Erdheim Chester disease

Author

Martínez‐López, Javier, primary, Márquez, Ana, additional, Pegoraro, Francesco, additional, Ortiz‐Fernández, Lourdes, additional, Acosta‐Herrera, Marialbert, additional, Kerick, Martin, additional, Gelain, Elena, additional, Diamond, Eli L., additional, Durham, Benjamin H., additional, Abdel‐Wahab, Omar, additional, Go, Ronald S., additional, Koster, Matthew J., additional, Dagna, Lorenzo, additional, Campochiaro, Corrado, additional, Collin, Matthew, additional, Milne, Paul, additional, Estrada‐Veras, Juvianee I., additional, O'Brien, Kevin, additional, Papo, Matthias, additional, Cohen‐Aubar, Fleur, additional, Amoura, Zahir, additional, Haroche, Julien, additional, Martín, Javier, additional, and Vaglio, Augusto, additional

Published
2023
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6. PB2208: CLUSTER ANALYSIS UNVEILS THE CLINICAL SPECTRUM OF ERDHEIM-CHESTER DISEASE

Author

Tesi, Michelangelo, primary, Pegoraro, Francesco, additional, Peyronel, Francesco, additional, Mazzariol, Martina, additional, Gelain, Elena, additional, Koster, Matthew, additional, Go, Ronald, additional, Goyal, Gaurav, additional, Collin, Matthew, additional, Milne, Paul, additional, Pagan, Sarah, additional, Cohen-Aubart, Fleur, additional, Papo, Matthias, additional, Estrada-Veras, Juvianee, additional, Mazor, Roei, additional, Dagna, Lorenzo, additional, Diamond, Eli, additional, Vaglio, Augusto, additional, and Haroche, Julien, additional

Published
2023
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7. Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease.

Author

Martínez‐López, Javier, Márquez, Ana, Pegoraro, Francesco, Ortiz‐Fernández, Lourdes, Acosta‐Herrera, Marialbert, Kerick, Martin, Gelain, Elena, Diamond, Eli L., Durham, Benjamin H., Abdel‐Wahab, Omar, Go, Ronald S., Koster, Matthew J., Dagna, Lorenzo, Campochiaro, Corrado, Collin, Matthew, Milne, Paul, Estrada‐Veras, Juvianee I., O'Brien, Kevin, Papo, Matthias, and Cohen‐Aubar, Fleur

Subjects
GENETIC mutation, CONFIDENCE intervals, GENOME-wide association studies, CELLULAR signal transduction, GENE expression, DESCRIPTIVE statistics, DATA analysis software, ODDS ratio, HEMATOPOIESIS, LOGISTIC regression analysis, ERDHEIM-Chester disease
Abstract

Objective: Erdheim‐Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been examined so far. The present study aims to explore the inherited genetic component of ECD by performing the first genome‐wide association study. Methods: After quality controls, a cohort of 255 patients with ECD and 7,471 healthy donors was included in this study. Afterward, a logistic regression followed by in silico functional annotation was performed. Results: A signal at the 18q12.3 genomic region was identified as a new susceptibility locus for ECD (P = 2.75 × 10−11; Odds Ratio = 2.09). This association was annotated to the SETBP1 gene, which is involved in clonal haematopoiesis. Functional annotation of this region and of the identified suggestive signals revealed additional genes that could be potentially involved in the pathogenesis of the disease. Conclusion: Overall, this work demonstrates that germline genetic variants can impact on the development of ECD and suggests new pathways with a potential pathogenic role. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Genome-wide association study identifies the first germline genetic variant associated with Erdheim Chester disease

Author

Histio UK, National Human Genome Research Institute (US), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (España), Instituto de Salud Carlos III, Agencia Estatal de Investigación (España), Ministerio de Ciencia e Innovación (España), Martínez López, Javier, Márquez, Ana, Pegoraro, Francesco, Ortiz-Fernández, Lourdes, Acosta-Herrera, Marialbert, Kerick, Martin, Gelain, Elena, Diamond, Eli L., Durham, Benjamin H., Abdel-Wahab, Omar, Go, Ronald S., Koster, Matthew J., Dagna, Lorenzo, Campochiaro, Corrado, Collin, Matthew, Milne, Paul, Estrada-Veras, Juvianee I., O'Brien, Kevin, Papo, Matthias, Cohen-Aubar, Fleur, Amoura, Zahir, Haroche, Julien, Martín, Javier, Vaglio, Augusto, Histio UK, National Human Genome Research Institute (US), Redes de Investigación Cooperativa Orientadas a Resultados en Salud (España), Instituto de Salud Carlos III, Agencia Estatal de Investigación (España), Ministerio de Ciencia e Innovación (España), Martínez López, Javier, Márquez, Ana, Pegoraro, Francesco, Ortiz-Fernández, Lourdes, Acosta-Herrera, Marialbert, Kerick, Martin, Gelain, Elena, Diamond, Eli L., Durham, Benjamin H., Abdel-Wahab, Omar, Go, Ronald S., Koster, Matthew J., Dagna, Lorenzo, Campochiaro, Corrado, Collin, Matthew, Milne, Paul, Estrada-Veras, Juvianee I., O'Brien, Kevin, Papo, Matthias, Cohen-Aubar, Fleur, Amoura, Zahir, Haroche, Julien, Martín, Javier, and Vaglio, Augusto

Abstract

[Objective] Erdheim-Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been examined so far. The present study aims to explore the inherited genetic component of ECD by performing the first genome-wide association study., [Methods] After quality controls, a cohort of 255 ECD patients and 7,471 healthy donors was included in this study. Afterwards, a logistic regression followed by in silico functional annotation was performed., [Results] A signal at the 18q12.3 genomic region was identified as a new susceptibility locus for ECD (p-value=2.75x10-11; OR=2.09). This association was annotated to the SETBP1 gene, which is involved in clonal haematopoiesis. Functional annotation of this region and of the identified suggestive signals revealed additional genes that could be potentially involved in the pathogenesis of the disease., [Conclusion] Overall, this work demonstrates that germline genetic variants can impact on the development of ECD and suggests new pathways with a potential pathogenic role.

Published
2023

10. Notch-dependent cooperativity between myeloid lineages promotes Langerhans cell histiocytosis pathology

Author

Kvedaraite, Egle, primary, Milne, Paul, additional, Khalilnezhad, Ahad, additional, Chevrier, Marion, additional, Sethi, Raman, additional, Lee, Hong Kai, additional, Hagey, Daniel W., additional, von Bahr Greenwood, Tatiana, additional, Mouratidou, Natalia, additional, Jädersten, Martin, additional, Lee, Nicole Yee Shin, additional, Minnerup, Lara, additional, Tan, Yingrou, additional, Dutertre, Charles-Antoine, additional, Benac, Nathan, additional, Hwang, You Yi, additional, Lum, Josephine, additional, Loh, Amos Hong Pheng, additional, Jansson, Jessica, additional, Teng, Karen Wei Weng, additional, Khalilnezhad, Shabnam, additional, Xu, Weili, additional, Resteu, Anastasia, additional, Tey, Hong Liang, additional, Guan, Ng Lai, additional, Larbi, Anis, additional, Howland, Shanshan Wu, additional, Arnell, Henrik, additional, Andaloussi, Samir E. L., additional, Braier, Jorge, additional, Rassidakis, Georgios, additional, Galluzzo, Laura, additional, Dzionek, Andrzej, additional, Henter, Jan-Inge, additional, Chen, Jinmiao, additional, Collin, Matthew, additional, and Ginhoux, Florent, additional

Published
2022
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11. Lineage-switching of the cellular distribution of BRAFV600E in multisystem Langerhans cell histiocytosis

Author

Milne, Paul, primary, Bomken, Simon, additional, Slater, Olga, additional, Kumar, Ashish R., additional, Nelson, Adam S, additional, Roy, Somak, additional, Velazquez, Jessica, additional, Mankad, Kshitij, additional, Nicholson, James, additional, Yeomanson, Dan, additional, Grundy, Richard, additional, Kamal, Ahmed, additional, Penn, Anthony, additional, Pears, Jane, additional, Millen, Gerard, additional, Morland, Bruce, additional, Hayden, James Timothy, additional, Lam, Jason, additional, Madkhali, Maymoon, additional, Macdonald, Jamie Liam, additional, Singh, Preeti, additional, Pagan, Sarah, additional, Rodriguez-Galindo, Carlos, additional, Minkov, Milen, additional, Donadieu, Jean, additional, Picarsic, Jennifer, additional, Allen, Carl E, additional, Bigley, Venetia, additional, and Collin, Matthew, additional

Published
2022
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13. Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia

Author

Onderzoek Beeld, Cancer, Tirtakusuma, Ricky, Szoltysek, Katarzyna, Milne, Paul, Grinev, Vasily V, Ptasinska, Anetta, Chin, Paulynn S, Meyer, Claus, Nakjang, Sirintra, Hehir-Kwa, Jayne Y, Williamson, Daniel, Cauchy, Pierre, Keane, Peter, Assi, Salam A, Ashtiani, Minoo, Kellaway, Sophie G, Imperato, Maria R, Vogiatzi, Fotini, Schweighart, Elizabeth K, Lin, Shan, Wunderlich, Mark, Stutterheim, Janine, Komkov, Alexander, Zerkalenkova, Elena, Evans, Paul, McNeill, Hesta, Elder, Alex, Martinez-Soria, Natalia, Fordham, Sarah E, Shi, Yuzhe, Russell, Lisa J, Pal, Deepali, Smith, Alex, Kingsbury, Zoya, Becq, Jennifer, Eckert, Cornelia, Haas, Oskar A, Carey, Peter, Bailey, Simon, Skinner, Roderick, Miakova, Natalia, Collin, Matthew, Bigley, Venetia, Haniffa, Muzlifah, Marschalek, Rolf, Harrison, Christine J, Cargo, Catherine A, Schewe, Denis, Olshanskaya, Yulia, Thirman, Michael J, Cockerill, Peter N, Mulloy, James C, Blair, Helen J, Vormoor, Josef, Allan, James M, Bonifer, Constanze, Heidenreich, Olaf, Bomken, Simon, Onderzoek Beeld, Cancer, Tirtakusuma, Ricky, Szoltysek, Katarzyna, Milne, Paul, Grinev, Vasily V, Ptasinska, Anetta, Chin, Paulynn S, Meyer, Claus, Nakjang, Sirintra, Hehir-Kwa, Jayne Y, Williamson, Daniel, Cauchy, Pierre, Keane, Peter, Assi, Salam A, Ashtiani, Minoo, Kellaway, Sophie G, Imperato, Maria R, Vogiatzi, Fotini, Schweighart, Elizabeth K, Lin, Shan, Wunderlich, Mark, Stutterheim, Janine, Komkov, Alexander, Zerkalenkova, Elena, Evans, Paul, McNeill, Hesta, Elder, Alex, Martinez-Soria, Natalia, Fordham, Sarah E, Shi, Yuzhe, Russell, Lisa J, Pal, Deepali, Smith, Alex, Kingsbury, Zoya, Becq, Jennifer, Eckert, Cornelia, Haas, Oskar A, Carey, Peter, Bailey, Simon, Skinner, Roderick, Miakova, Natalia, Collin, Matthew, Bigley, Venetia, Haniffa, Muzlifah, Marschalek, Rolf, Harrison, Christine J, Cargo, Catherine A, Schewe, Denis, Olshanskaya, Yulia, Thirman, Michael J, Cockerill, Peter N, Mulloy, James C, Blair, Helen J, Vormoor, Josef, Allan, James M, Bonifer, Constanze, Heidenreich, Olaf, and Bomken, Simon

Published
2022

14. Lineage switching of the cellular distribution of BRAFV600Ein multisystem Langerhans cell histiocytosis

Author

Milne, Paul, Bomken, Simon, Slater, Olga, Kumar, Ashish, Nelson, Adam, Roy, Somak, Velazquez, Jessica, Mankad, Kshitij, Nicholson, James, Yeomanson, Dan, Grundy, Richard, Kamal, Ahmed, Penn, Anthony, Pears, Jane, Millen, Gerard, Morland, Bruce, Hayden, James, Lam, Jason, Madkhali, Maymoon, MacDonald, Jamie, Singh, Preeti, Pagan, Sarah, Rodriguez-Galindo, Carlos, Minkov, Milen, Donadieu, Jean, Picarsic, Jennifer, Allen, Carl, Bigley, Venetia, and Collin, Matthew

Abstract

•BRAFV600Ealleles are mainly found in myeloid cells at diagnosis of multisystem LCH.•After more than 2 years, T cells account for 85% of persistent BRAFV600Emutation detected in peripheral blood mononuclear cells.

Published
2023
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