Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation
Obeng, Esther A, Chappell, Ryan J, Seiler, Michael, Chen, Michelle C, Campagna, Dean R, Schmidt, Paul J, Schneider, Rebekka K, Lord, Allegra M, Wang, Lili, Gambe, Rutendo G, McConkey, Marie E, Ali, Abdullah M, Raza, Azra, Yu, Lihua, Buonamici, Silvia, Smith, Peter G, Mullally, Ann, Wu, Catherine J, Fleming, Mark D, Ebert, Benjamin L
Published in Cancer cell (12.09.2016)
Published in Cancer cell (12.09.2016)
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Journal Article
The Steap proteins are metalloreductases
Ohgami, Robert S., Campagna, Dean R., McDonald, Alice, Fleming, Mark D.
Published in Blood (15.08.2006)
Published in Blood (15.08.2006)
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Journal Article
UBE2O remodels the proteome during terminal erythroid differentiation
Nguyen, Anthony T., Prado, Miguel A., Schmidt, Paul J., Sendamarai, Anoop K., Wilson-Grady, Joshua T., Min, Mingwei, Campagna, Dean R., Tian, Geng, Shi, Yuan, Dederer, Verena, Kawan, Mona, Kuehnle, Nathalie, Paulo, Joao A., Yao, Yu, Weiss, Mitchell J., Justice, Monica J., Gygi, Steven P., Fleming, Mark D., Finley, Daniel
Published in Science (American Association for the Advancement of Science) (04.08.2017)
Published in Science (American Association for the Advancement of Science) (04.08.2017)
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Journal Article
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Andrews, Nancy C, Fleming, Mark D, Finberg, Karin E, Heeney, Matthew M, Campagna, Dean R, Ayd nok, Ye im, Pearson, Howard A, Hartman, Kip R, Mayo, Mary M, Samuel, Stewart M, Strouse, John J, Markianos, Kyriacos
Published in Nature genetics (01.05.2008)
Published in Nature genetics (01.05.2008)
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Journal Article
Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine
Ducamp, Sarah, Sendamarai, Anoop K., Campagna, Dean R., Chin, Desmond Wai Loon, Fujiwara, Yuko, Schmidt, Paul J., Fleming, Mark D.
Published in Blood (20.06.2024)
Published in Blood (20.06.2024)
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Journal Article
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors
Lizarraga, Sofia B, Margossian, Steven P, Harris, Marian H, Campagna, Dean R, Han, An-Ping, Blevins, Sherika, Mudbhary, Raksha, Barker, Jane E, Walsh, Christopher A, Fleming, Mark D
Published in Development (Cambridge) (01.06.2010)
Published in Development (Cambridge) (01.06.2010)
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Journal Article
A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion
Yin, Shanye, Gambe, Rutendo G., Sun, Jing, Martinez, Aina Zurita, Cartun, Zachary J., Regis, Fara Faye D., Wan, Youzhong, Fan, Jean, Brooks, Angela N., Herman, Sarah E.M., ten Hacken, Elisa, Taylor-Weiner, Amaro, Rassenti, Laura Z., Ghia, Emanuela M., Kipps, Thomas J., Obeng, Esther A., Cibulskis, Carrie L., Neuberg, Donna, Campagna, Dean R., Fleming, Mark D., Ebert, Benjamin L., Wiestner, Adrian, Leshchiner, Ignaty, DeCaprio, James A., Getz, Gad, Reed, Robin, Carrasco, Ruben D., Wu, Catherine J., Wang, Lili
Published in Cancer cell (11.02.2019)
Published in Cancer cell (11.02.2019)
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Journal Article
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
Riley, Lisa G, Heeney, Matthew M, Rudinger-Thirion, Joëlle, Frugier, Magali, Campagna, Dean R, Zhou, Ronghao, Hale, Gregory A, Hilliard, Lee M, Kaplan, Joel A, Kwiatkowski, Janet L, Sieff, Colin A, Steensma, David P, Rennings, Alexander J, Simons, Annet, Schaap, Nicolaas, Roodenburg, Richard J, Kleefstra, Tjitske, Arenillas, Leonor, Fita-Torró, Josep, Ahmed, Rasha, Abboud, Miguel, Bechara, Elie, Farah, Roula, Tamminga, Rienk Yj, Bottomley, Sylvia S, Sanchez, Mayka, Swinkels, Dorine W, Christodoulou, John, Fleming, Mark D
Published in Haematologica (Roma) (01.12.2018)
Published in Haematologica (Roma) (01.12.2018)
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Journal Article
Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells
Fleming, Mark D, Ohgami, Robert S, Campagna, Dean R, Greer, Eric L, Antiochos, Brendan, McDonald, Alice, Chen, Jing, Sharp, John J, Fujiwara, Yuko, Barker, Jane E
Published in Nature genetics (01.11.2005)
Published in Nature genetics (01.11.2005)
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Journal Article
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Chakraborty, Pranesh K., Schmitz-Abe, Klaus, Kennedy, Erin K., Mamady, Hapsatou, Naas, Turaya, Durie, Danielle, Campagna, Dean R., Lau, Ashley, Sendamarai, Anoop K., Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia-Jane, Klaassen, Robert J., Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Wynn, Robert F., Laxer, Ronald M., Minniti, Caterina P., Moppett, John, Bordon, Victoria, Geraghty, Michael, Joyce, Paul B.M., Markianos, Kyriacos, Rudner, Adam D., Holcik, Martin, Fleming, Mark D.
Published in Blood (30.10.2014)
Published in Blood (30.10.2014)
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Journal Article
A synonymous coding variant that alters ALAS2 splicing and causes X‐linked sideroblastic anemia
Oakley, Jamie Heather, Campagna, Dean R., Sun, Liang, Rockowitz, Shira, Sliz, Piotr, Boudreaux, Jeanne, Woods, Gary, Fleming, Mark D.
Published in Pediatric blood & cancer (01.01.2022)
Published in Pediatric blood & cancer (01.01.2022)
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Journal Article
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Schmitz-Abe, Klaus, Ciesielski, Szymon J., Schmidt, Paul J., Campagna, Dean R., Rahimov, Fedik, Schilke, Brenda A., Cuijpers, Marloes, Rieneck, Klaus, Lausen, Birgitte, Linenberger, Michael L., Sendamarai, Anoop K., Guo, Chaoshe, Hofmann, Inga, Newburger, Peter E., Matthews, Dana, Shimamura, Akiko, Snijders, Pieter J.L.M., Towne, Meghan C., Niemeyer, Charlotte M., Watson, Henry G., Dziegiel, Morten H., Heeney, Matthew M., May, Alison, Bottomley, Sylvia S., Swinkels, Dorine W., Markianos, Kyriacos, Craig, Elizabeth A., Fleming, Mark D.
Published in Blood (17.12.2015)
Published in Blood (17.12.2015)
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Journal Article
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
Bottomley, Sylvia S, Campagna, Dean R, Matsuoka, Makoto, Guernsey, Duane L, Rideout, Andrea, Dyack, Sarah, Samuels, Mark E, Kellogg, Mark D, Schmidt, Paul J, Nightingale, Mathew, Jiang, Haiyan, Ludman, Mark, Saint-Amant, Louis, Lachance, Mathieu, Ferguson, Meghan, Fernandez, Conrad V, Evans, Susan C, Fleming, Mark D, Orr, Andrew
Published in Nature genetics (01.06.2009)
Published in Nature genetics (01.06.2009)
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Journal Article
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia
Crispin, Andrew, Guo, Chaoshe, Chen, Caiyong, Campagna, Dean R, Schmidt, Paul J, Lichtenstein, Daniel, Cao, Chang, Sendamarai, Anoop K, Hildick-Smith, Gordon J, Huston, Nicholas C, Boudreaux, Jeanne, Bottomley, Sylvia S, Heeney, Matthew M, Paw, Barry H, Fleming, Mark D, Ducamp, Sarah
Published in The Journal of clinical investigation (01.10.2020)
Published in The Journal of clinical investigation (01.10.2020)
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Journal Article
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
Hofmann, Inga, Geer, Mitchell J., Vögtle, Timo, Crispin, Andrew, Campagna, Dean R., Barr, Alastair, Calicchio, Monica L., Heising, Silke, van Geffen, Johanna P., Kuijpers, Marijke J.E., Heemskerk, Johan W.M., Eble, Johannes A., Schmitz-Abe, Klaus, Obeng, Esther A., Douglas, Michael, Freson, Kathleen, Pondarré, Corinne, Favier, Rémi, Jarvis, Gavin E., Markianos, Kyriacos, Turro, Ernest, Ouwehand, Willem H., Mazharian, Alexandra, Fleming, Mark D., Senis, Yotis A.
Published in Blood (27.09.2018)
Published in Blood (27.09.2018)
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Journal Article
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature
Heeney, Matthew M., Berhe, Simon, Campagna, Dean R., Oved, Joseph H., Kurre, Peter, Shaw, Peter J., Teo, Juliana, Shanap, Mayada A., Hassab, Hoda M., Glader, Bertil E., Shah, Sanjay, Yoshimi, Ayami, Ameri, Afshin, Antin, Joseph H., Boudreaux, Jeanne, Briones, Michael, Dickerson, Kathryn E., Fernandez, Conrad V., Farah, Roula, Hasle, Henrik, Keel, Sioban B., Olson, Timothy S., Powers, Jacquelyn M., Rose, Melissa J., Shimamura, Akiko, Bottomley, Sylvia S., Fleming, Mark D.
Published in Human mutation (01.11.2021)
Published in Human mutation (01.11.2021)
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Journal Article
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
Lichtenstein, Daniel A., Crispin, Andrew W., Sendamarai, Anoop K., Campagna, Dean R., Schmitz-Abe, Klaus, Sousa, Cristovao M., Kafina, Martin D., Schmidt, Paul J., Niemeyer, Charlotte M., Porter, John, May, Alison, Patnaik, Mrinal M., Heeney, Matthew M., Kimmelman, Alec, Bottomley, Sylvia S., Paw, Barry H., Markianos, Kyriacos, Fleming, Mark D.
Published in Blood (13.10.2016)
Published in Blood (13.10.2016)
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Journal Article
Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations
Bergmann, Anke K., Campagna, Dean R., McLoughlin, Erin M., Agarwal, Suneet, Fleming, Mark D., Bottomley, Sylvia S., Neufeld, Ellis J.
Published in Pediatric blood & cancer (01.02.2010)
Published in Pediatric blood & cancer (01.02.2010)
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Journal Article
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
Heeney, Matthew M., Guo, Dongjing, De Falco, Luigia, Campagna, Dean R., Olbina, Gordana, Kao, Paige P.-C., Schmitz-Abe, Klaus, Rahimov, Fedik, Gutschow, Patrick, Westerman, Keith, Ostland, Vaughn, Jackson, Tracy, Klaassen, Robert J., Markianos, Kyriacos, Finberg, Karin E., Iolascon, Achille, Westerman, Mark, London, Wendy B., Fleming, Mark D.
Published in Blood (26.07.2018)
Published in Blood (26.07.2018)
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