Fanconi anemia (FA;MIM# 227650) is a rare autosomal recessive disorder appearing at a frequency of one in 100.000 and affecting approximately 2000 families in the United States. FA is characterized by catastrophic bone marrow failure, often by five years of age, and acute myeloid leukemia (AML). In addition to hematopoietic features, Fanconi Anemia is often accompanied by characteristic congenital abnormalities including slow growth, short stature, microcephaly, and microphthalmia [1]. The most common congenital anomaly in FA is an abnormal or missing thumb and radius, but kidney and reproductive organs are also frequently affected [2], although abnormal blood cell development is the main cause of morbidity and mortality [3, 4]. A gap in our knowledge is the mechanism by which FA leads to developmental anomalies in blood, skeleton, eyes, and other organs.

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Zhang, Qing-Shuo; Benedetti, Eric; Deater, Matthew et al. (2015) Oxymetholone therapy of fanconi anemia suppresses osteopontin transcription and induces hematopoietic stem cell cycling. Stem Cell Reports 4:90-102
Zhang, Qing-Shuo; Marquez-Loza, Laura; Sheehan, Andrea M et al. (2014) Evaluation of resveratrol and N-acetylcysteine for cancer chemoprevention in a Fanconi anemia murine model. Pediatr Blood Cancer 61:740-2
Kim, Hyungjin; Dejsuphong, Donniphat; Adelmant, Guillaume et al. (2014) Transcriptional repressor ZBTB1 promotes chromatin remodeling and translesion DNA synthesis. Mol Cell 54:107-18
Park, Eunmi; Kim, Hyungjin; Kim, Jung Min et al. (2013) FANCD2 activates transcription of TAp63 and suppresses tumorigenesis. Mol Cell 50:908-18
Zhang, Qing-Shuo; Watanabe-Smith, Kevin; Schubert, Kathryn et al. (2013) Fancd2 and p21 function independently in maintaining the size of hematopoietic stem and progenitor cell pool in mice. Stem Cell Res 11:687-92
Dao, Kim-Hien T; Rotelli, Michael D; Brown, Brieanna R et al. (2013) The PI3K/Akt1 pathway enhances steady-state levels of FANCL. Mol Biol Cell 24:2582-92
Mistry, Helena; Hsieh, Grace; Buhrlage, Sara J et al. (2013) Small-molecule inhibitors of USP1 target ID1 degradation in leukemic cells. Mol Cancer Ther 12:2651-62
Park, Eunmi; Kim, Jung Min; Primack, Benjamin et al. (2013) Inactivation of Uaf1 causes defective homologous recombination and early embryonic lethality in mice. Mol Cell Biol 33:4360-70
Garbati, Michael R; Hays, Laura E; Keeble, Winifred et al. (2013) FANCA and FANCC modulate TLR and p38 MAPK-dependent expression of IL-1* in macrophages. Blood 122:3197-205
Anur, Praveen; Yates, Jane; Garbati, Michael R et al. (2012) p38 MAPK inhibition suppresses the TLR-hypersensitive phenotype in FANCC- and FANCA-deficient mononuclear phagocytes. Blood 119:1992-2002

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