Zobrazeno 1 - 10
of 227
pro vyhledávání: '"Jeffrey M, Lipton"'
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:
D. Matthew Gianferante, Marcin W. Wlodarski, Evangelia Atsidaftos, Lydie Da Costa, Polyxeni Delaporta, Jason E. Farrar, Frederick D. Goldman, Maryam Hussain, Antonis Kattamis, Thierry Leblanc, Jeffrey M. Lipton, Charlotte M. Niemeyer, Dagmar Pospisilova, Paola Quarello, Ugo Ramenghi, Vijay G. Sankaran, Adrianna Vlachos, Jana Volejnikova, Blanche P. Alter, Sharon A. Savage, Neelam Giri
Publikováno v:
Haematologica, Vol 106, Iss 5 (2020)
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del
Externí odkaz:
https://doaj.org/article/6dcaa279444c45d49f67d28d56e40b5d
Publikováno v:
Molecular Medicine, Vol 24, Iss 1, Pp 1-15 (2018)
Abstract Erythropoiesis is a tightly-regulated and complex process originating in the bone marrow from a multipotent stem cell and terminating in a mature, enucleated erythrocyte. Altered red cell production can result from the direct impairment of m
Externí odkaz:
https://doaj.org/article/39bd3718db0848f48345348128bdc362
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e781b5291a00cc8249c1831deb3cc9a
https://doi.org/10.1182/bloodadvances.2021005539
https://doi.org/10.1182/bloodadvances.2021005539
Autor:
Michael A Pulsipher, Edie Weller, Leslie E. Lehmann, Alison Bertuch, Paibel Aguayo-Hiraldo, Bogdan Dinu, Timothy S. Olson, Taizo A. Nakano, Alfred Gillio, Lauri M. Burroughs, James N. Huang, Jeffrey M. Lipton, Kathryn E. Dickerson, Alice Bertaina, Jonathan Fish, Maggie Malsch, Roberta H. Adams, Inga Hofmann, Marcin W Wlodarski, Rabi Hanna, Nicholas J. Gloude, Evan Sherek, Akiko Shimamura, David A. Williams
Publikováno v:
Transplantation and Cellular Therapy. 29:S88-S89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6db5a9082c189cca9b675da79384784
https://doi.org/10.1016/s2666-6367(23)00181-1
https://doi.org/10.1016/s2666-6367(23)00181-1
Autor:
Lionel Blanc, Jeffrey M. Lipton
Publikováno v:
Blood
We follow a patient with Diamond-Blackfan anemia (DBA) mosaic for a pathogenic RPS19 haploinsufficiency mutation with persistent transfusion-dependent anemia. Her anemia remitted on eltrombopag (EPAG), but surprisingly, mosaicism was unchanged, sugge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f059b13a66ee0cb317497a7de8a0a31
https://pubmed.ncbi.nlm.nih.gov/35349664
https://pubmed.ncbi.nlm.nih.gov/35349664
Autor:
Jana Volejnikova, Dagmar Pospisilova, Blanche P. Alter, Sharon A. Savage, Marcin W. Wlodarski, Antonis Kattamis, Polyxeni Delaporta, Paola Quarello, D. Matthew Gianferante, Thierry Leblanc, Ugo Ramenghi, Adrianna Vlachos, Jeffrey M. Lipton, Frederick D. Goldman, Evangelia Atsidaftos, Maryam Hussain, Lydie Da Costa, Vijay G. Sankaran, Charlotte M. Niemeyer, Neelam Giri, Jason E. Farrar
Publikováno v:
Haematologica. 106:1303-1310
Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4cd818f281ed2f052baf47b6db09f9b
https://doi.org/10.3324/haematol.2020.246629
https://doi.org/10.3324/haematol.2020.246629
Autor:
Jimmy Hom, Theodoros Karnavas, Emily Hartman, Julien Papoin, Yuefeng Tang, Brian M. Dulmovits, Mushran Khan, Hiren Patel, Jedediah Bondy, Morris Edelman, Renaud Touraine, Geneviève Chanoz-Poulard, Gregory Ottenberg, Robert Maynard, Douglas J. Adams, Raymond F. Robledo, Daniel A Grande, Philippe Marambaud, Betsy J Barnes, Sébastien Durand, Anupama Narla, Steven Ellis, Leonard I. Zon, Luanne L. Peters, Lydie Da Costa, Jeffrey M. Lipton, Cheryl L. Ackert-Bicknell, Lionel Blanc
Ribosomopathies are a class of disorders caused by defects in the structure or function of the ribosome and characterized by tissue-specific abnormalities. Diamond Blackfan anemia (DBA) arises from different mutations, predominantly in genes encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21567d6c1025e38b34747d3ef55d9dc0
https://doi.org/10.1101/2022.01.14.476336
https://doi.org/10.1101/2022.01.14.476336
Autor:
Hisham Abdel-Azim, Suchitra S. Acharya, Anurag K. Agrawal, Maha Al-Ghafry, Carl E. Allen, Seema Amin, Mark P. Atlas, Rochelle Bagatell, Lionel Blanc, Francine Blei, James B. Bussel, William L. Carroll, James A. Connelly, Jeffrey S. Dome, Brian M. Dulmovits, Olive S. Eckstein, Caitlin W. Elgarten, Mohamed Tarek Elghetany, Noah Federman, Carolyn Fein Levy, James Feusner, Jonathan D. Fish, Adriana Fonseca, Jason L. Freedman, Debra L. Friedman, Derek Hanson, Nobuko Hijiya, Inga Hofmann, Mary S. Huang, Ionela Iacobas, Cassandra D. Josephson, Rachel Kessel, Eugene Khandros, Julie Krystal, Janet L. Kwiatkowski, Philip Lanzkowsky, Ann Leahey, Jeffrey M. Lipton, Catherine McGuinn, Rajen J. Mody, Amy Nadel, Michelle Nash, Omar Niss, Thomas A. Olson, Pallavi M. Pillai, Jacquelyn M. Powers, Josef T. Prchal, Michael A. Pulsipher, Charles T. Quinn, Miriam Radinsky, Arlene Redner, Susan R. Rheingold, Susmita N. Sarangi, Amish Shah, Jordan A. Shavit, Christine M. Smith, Elizabeth Sokol, Kathryn S. Sutton, Tsewang Tashi, David T. Teachey, Anshul Vagrecha, Adrianna Vlachos, Kelly Walkovich, Anne B. Warwick, Howard J. Weinstein, Katrina Winsnes, Lawrence C. Wolfe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d9ce43d5bfb90ec0781092e5f0e1210
https://doi.org/10.1016/b978-0-12-821671-2.00046-5
https://doi.org/10.1016/b978-0-12-821671-2.00046-5