Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ashley Galvin"'
Autor:
Alyssa L. Kennedy, Kasiani C. Myers, James Bowman, Christopher J. Gibson, Nicholas D. Camarda, Elissa Furutani, Gwen M. Muscato, Robert H. Klein, Kaitlyn Ballotti, Shanshan Liu, Chad E. Harris, Ashley Galvin, Maggie Malsch, David Dale, John M. Gansner, Taizo A. Nakano, Alison Bertuch, Adrianna Vlachos, Jeffrey M. Lipton, Paul Castillo, James Connelly, Jane Churpek, John R. Edwards, Nobuko Hijiya, Richard H. Ho, Inga Hofmann, James N. Huang, Siobán Keel, Adam Lamble, Bonnie W. Lau, Maxim Norkin, Elliot Stieglitz, Wendy Stock, Kelly Walkovich, Steffen Boettcher, Christian Brendel, Mark D. Fleming, Stella M. Davies, Edie A. Weller, Christopher Bahl, Scott L. Carter, Akiko Shimamura, R. Coleman Lindsley
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations
Externí odkaz:
https://doaj.org/article/911d91b30d4548af8f9e72d025592f4b
Autor:
Winfred C. Wang, Ashley Galvin, Maggie Malsch, Rabi Hanna, Kasiani C. Myers, Edie Weller, Leann Mount, Bonnie W Lau, Kelan Queenan, Robert B. Lorsbach, Taizo A. Nakano, Adrianna Vlachos, Shanshan Liu, Mark D. Fleming, Sarah K. Steltz, Stella M. Davies, Jordan Henry Larson, Sara Loveless, Akiko Shimamura, Elissa Furutani, Sioban Keel, Amy E. Geddis, John M. Gansner, Alison A. Bertuch, Jeffrey M. Lipton
Publikováno v:
Blood Advances
Key Points Severe bone marrow failure was primarily observed in early childhood in children with biallelic SBDS mutations.Absolute neutrophil counts were positively associated with age (P < .0001) in patients with biallelic SBDS mutations.
Visua
Visua
Autor:
Ashley Galvin, Chris R. Reilly, Maggie Malsch, Sara Loveless, Joseph H. Antin, Stella M Davies, Courtney D. DiNardo, Adam Lane, Coleman Lindsley, Taizo A. Nakano, Richard Cooper, Katherine Coyne, Claire Dusa, Margret Joos, Mark D. Fleming, Kasiani C. Myers, Akiko Shimamura
Publikováno v:
Blood. 140:2949-2950
Autor:
Grzegorz Nalepa, Etan Orgel, Richard H. Ho, Matthew J. Oberley, Mark D. Fleming, Yves D. Pastore, Courtney D. DiNardo, Joseph Rosenthal, M. Tarek Elghetany, Akiko Shimamura, Maggie Malsch, Bradford Siegele, Ashley Galvin, Michelle Manalang, Elissa Furutani, Iftikhar Hanif, James A. Connelly, Jordan Henry Larson, Nicole Karras, Lauri Burroughs, Edie Weller, Farid Boulad, Kasiani C. Myers, Blanche P. Alter, Carlos E. Bueso-Ramos, Maxim Norkin, Valérie Arsenault, Taizo A. Nakano, Kelly Walkovich, Lisa J. McReynolds, Stella M. Davies, Paul Castillo
Publikováno v:
Lancet Haematol
Summary Background Data to inform surveillance and treatment for leukaemia predisposition syndromes are scarce and recommendations are largely based on expert opinion. This study aimed to investigate the clinical features and outcomes of patients wit
Autor:
Jessica A. Pollard, Elissa Furutani, Shanshan Liu, Erica Esrick, Laurie E. Cohen, Jacob Bledsoe, Chih-Wei Liu, Kun Lu, Maria Jose Ramirez de Haro, Jordi Surrallés, Maggie Malsch, Ashley Kuniholm, Ashley Galvin, Myriam Armant, Annette S. Kim, Kaitlyn Ballotti, Lisa Moreau, Yu Zhou, Daria Babushok, Farid Boulad, Clint Carroll, Helge Hartung, Amy Hont, Taizo Nakano, Tim Olson, Sei-Gyung Sze, Alexis A. Thompson, Marcin W. Wlodarski, Xuesong Gu, Towia A. Libermann, Alan D’Andrea, Markus Grompe, Edie Weller, Akiko Shimamura
Publikováno v:
Blood advances. 6(12)
Fanconi anemia (FA), a genetic DNA repair disorder characterized by marrow failure and cancer susceptibility. In FA mice, metformin improves blood counts and delays tumor development. We conducted a single institution study of metformin in nondiabeti
Autor:
John M. Gansner, James Bowman, Jane E. Churpek, Gwen M. Muscato, Richard H. Ho, Adam J. Lamble, Mark D. Fleming, Robert H. Klein, Alison A. Bertuch, Shanshan Liu, Wendy Stock, Jeffrey M. Lipton, Christian Brendel, Ashley Galvin, James A. Connelly, Nicholas D. Camarda, Christopher J. Gibson, Christopher D. Bahl, Chad E. Harris, Kasiani C. Myers, Sioban Keel, R. Coleman Lindsley, Kelly Walkovich, Maggie Malsch, Bonnie W Lau, Alyssa L. Kennedy, Kaitlyn Ballotti, John R. Edwards, David C. Dale, Akiko Shimamura, Stella M. Davies, Elliot Stieglitz, Scott L. Carter, Paul Castillo, Steffen Boettcher, Taizo A. Nakano, Adrianna Vlachos, Maxim Norkin, Elissa Furutani, Edie Weller, Nobuko Hijiya, Inga Hofmann, James N. Huang
Publikováno v:
Nature communications, vol 12, iss 1
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications
To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. To def
Autor:
Jacob Bledsoe, Farid Boulad, Annette S. Kim, Laurie E. Cohen, Kaitlyn Ballotti, Elissa M. Furutani, Maggie Malsch, Marcin W. Wlodarski, Amy Hont, María José Ramírez, Erica B. Esrick, Alexis A. Thompson, Edie Weller, Jessica A. Pollard, Alan D. D'Andrea, Jordi Surrallés, Ashley Kuniholm, Ashley Galvin, Towia A. Libermann, Clinton Carroll, Akiko Shimamura, Kun Lu, Lisa A. Moreau, Shanshan Liu, Helge Hartung, Daria V. Babushok, Sei-Gyung K. Sze, Yu Zhou, Myriam Armant, Markus Grompe, Taizo A. Nakano, Timothy S. Olson
Publikováno v:
Blood. 138:1102-1102
Fanconi anemia (FA), a genetic disorder affecting DNA repair, is characterized by bone marrow failure and cancer susceptibility. In FA mouse models, metformin (N,N-dimethylguanide) a biguanide metabolic agent, improves blood counts and delays tumor d
Autor:
Maxim Norkin, Sixi Liu, R. C. Lindsley, Alison A. Bertuch, Christopher D. Bahl, Ashley Galvin, Jane E. Churpek, Nicholas D. Camarda, Elissa Furutani, Wendy Stock, Jeffrey M. Lipton, Bonnie W Lau, Christian Brendel, James A. Connelly, Scott L. Carter, Steffen Boettcher, David C. Dale, Sioban Keel, Alyssa L. Kennedy, Kasiani C. Myers, Inga Hofmann, John R. Edwards, Akiko Shimamura, James Bowman, Chad E. Harris, James N. Huang, Richard H. Ho, Rüdiger Klein, Mark D. Fleming, Maggie Malsch, Taizo A. Nakano, Adrianna Vlachos, John M. Gansner, Christopher J. Gibson, Stella M. Davies, Elliot Stieglitz, Paul Castillo, Adam J. Lamble, Edie Weller, G. M. Muscato, Nobuko Hijiya, Kaitlyn Ballotti, Kelly Walkovich
Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome with predisposition to developing leukemia. We found that multiple independent somatic hematopoietic clones arise early in life, most commonly harboring heterozygous mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a72a878ae541d1387584ab459615d13
https://doi.org/10.1101/2020.06.04.134692
https://doi.org/10.1101/2020.06.04.134692
Autor:
Taizo A. Nakano, Adrianna Vlachos, Maggie Malsch, Alyssa L. Kennedy, Shanshan Liu, David C. Dale, James A. Connelly, Nicholas D. Camarda, James Bowman, Nobuko Hijiya, Akiko Shimamura, R. Coleman Lindsley, Edie Weller, Scott L. Carter, Jeffrey H. Lipton, Kelly Walkovich, Inga Hofmann, Chad E. Harris, Robert Klein, Sioban Keel, Steffen Boettcher, John M. Gansner, Christian Brendel, James N. Huang, Kasiani C. Myers, Wendy Stock, Chris Bahl, Adam J. Lamble, Elissa M. Furutani, Maxim Norkin, Alison A. Bertuch, Ashley Galvin, Bonnie W. Lau, Christopher J. Gibson, Gwen M. Muscato, Richard H. Ho, Mark D. Fleming, Kaitlyn Ballotti, John R. Edwards, Stella M. Davies, Elliot Stieglitz, Paul Castillo
Publikováno v:
Blood. 136:35-36
Background: Shwachman-Diamond Syndrome (SDS) is a bone marrow failure disorder caused by impaired removal of EIF6 from the nascent 60S ribosome subunit, resulting in defective ribosome assembly. SDS patients have a high risk of myeloid neoplasms (MN)
Autor:
Joan Moore, Stella M. Davies, Ellie Fratt, Leann Mount, Kelly McIntosh, Jacob Cotton, Alison A. Bertuch, Elissa Furutani, Winfred C. Wang, Jordan Larson, Akiko Shimamura, Rabi Hanna, Leah Cheng, Sara Loveless, Ashley Galvin, Maggie Malsch, Kasiani C. Myers
Publikováno v:
Blood. 132:3871-3871
The Shwachman-Diamond Syndrome Registry (SDSR) was established in December 2008 with the goal of understanding the natural history and biology of SDS to improve the lives of people with SDS. The SDSR has enrolled 220 patients with biallelic SBDS muta