Mark Daniel Fleming

Publications

1. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. medRxiv. 2024 Dec 26. View Abstract
2. Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine. Blood. 2024 09 26; 144(13):1418-1432. View Abstract
3. T-Lymphoblastic Lymphoma Cells Express High Levels of BCL2, S1P1, and ICAM1, Leading to a Blockade of Tumor Cell Intravasation. Cancer Cell. 2024 Jun 10; 42(6):1130-1131. View Abstract
4. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Abstract
5. Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting. J Mol Diagn. 2024 05; 26(5):430-444. View Abstract
6. Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis. Sci Adv. 2024 Feb 02; 10(5):eadj9479. View Abstract
7. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Abstract
8. Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome. Am J Hematol. 2023 12; 98(12):E376-E379. View Abstract
9. Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells. Nat Genet. 2023 07; 55(7):1198-1209. View Abstract
10. Loss of the placental iron exporter ferroportin 1 causes embryonic demise in late-gestation mouse pregnancy. Development. 2022 12 01; 149(23). View Abstract
11. Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria. J Am Acad Dermatol. 2023 05; 88(5):1148-1151. View Abstract
12. DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling. Sci Immunol. 2022 09 16; 7(75):eabi4611. View Abstract
13. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 11; 43(11):1609-1628. View Abstract
14. Association of Shelter-in-Place Hotels With Health Services Use Among People Experiencing Homelessness During the COVID-19 Pandemic. JAMA Netw Open. 2022 07 01; 5(7):e2223891. View Abstract
15. Neutrality, conflict, and structural determinants of health in a Jerusalem emergency department. Int J Equity Health. 2022 06 24; 21(1):89. View Abstract
16. Defining case management success: a qualitative study of case manager perspectives from a large-scale health and social needs support program. BMJ Open Qual. 2022 06; 11(2). View Abstract
17. Hematologic complications with age in Shwachman-Diamond syndrome. Blood Adv. 2022 01 11; 6(1):297-306. View Abstract
18. Hereditary myopathies associated with hematological abnormalities. Muscle Nerve. 2022 04; 65(4):374-390. View Abstract
19. Association of unbalanced translocation der(1;7) with germline GATA2 mutations. Blood. 2021 12 09; 138(23):2441-2445. View Abstract
20. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HGG Adv. 2022 Jan 13; 3(1):100075. View Abstract
21. Prevalence and Predictors of Iron Deficiency in Adolescent and Young Adult Outpatients: Implications for Screening. Clin Pediatr (Phila). 2022 01; 61(1):66-75. View Abstract
22. "Housing Is Health Care": Treating Homelessness in Safety-net Hospitals. Med Anthropol Q. 2022 03; 36(1):44-63. View Abstract
23. Managing the "hot spots": Health care, policing, and the governance of poverty in the US. Am Ethnol. 2021 Nov; 48(4):474-488. View Abstract
24. Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2022 01 01; 97(1):18-29. View Abstract
25. A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. Pediatr Blood Cancer. 2022 01; 69(1):e29309. View Abstract
26. SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. Hum Mutat. 2021 11; 42(11):1367-1383. View Abstract
27. Maternal Iron Deficiency Modulates Placental Transcriptome and Proteome in Mid-Gestation of Mouse Pregnancy. J Nutr. 2021 05 11; 151(5):1073-1083. View Abstract
28. Localization and Kinetics of the Transferrin-Dependent Iron Transport Machinery in the Mouse Placenta. Curr Dev Nutr. 2021 Apr; 5(4):nzab025. View Abstract
29. Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun. 2021 02 26; 12(1):1334. View Abstract
30. Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and Infection. Med. 2021 02 12; 2(2):164-179.e12. View Abstract
31. Social Literacy: Nurses' Contribution Toward the Co-Production of Self-Management. Glob Qual Nurs Res. 2021 Jan-Dec; 8:2333393621993451. View Abstract
32. Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model. Am J Hematol. 2021 02 01; 96(2):251-257. View Abstract
33. Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. J Clin Invest. 2020 10 01; 130(10):5245-5256. View Abstract
34. Patient Engagement, Chronic Illness, and the Subject of Health Care Reform. Med Anthropol. 2021 04; 40(3):214-227. View Abstract
35. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genet Med. 2021 01; 23(1):140-148. View Abstract
36. A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium. Pediatr Blood Cancer. 2020 10; 67(10):e28444. View Abstract
37. The role of iron in mediating testosterone's effects on erythropoiesis in mice. FASEB J. 2020 09; 34(9):11672-11684. View Abstract
38. ITK deficiency presenting as autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2021 02; 147(2):743-745.e1. View Abstract
39. Histologic and Laboratory Characteristics of Symptomatic and Asymptomatic Castleman Disease in the Pediatric Population. Am J Clin Pathol. 2020 05 05; 153(6):821-832. View Abstract
40. Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. Am J Hematol. 2020 05; 95(5):492-496. View Abstract
41. Outcomes Following Inferior Mesenteric Artery Reimplantation During Elective Aortic Aneurysm Surgery. Ann Vasc Surg. 2020 Jul; 66:65-69. View Abstract
42. Single-center experience with Indigo aspiration thrombectomy for acute lower limb ischemia. J Vasc Surg. 2020 07; 72(1):226-232. View Abstract
43. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol. 2020 Mar; 7(3):e238-e246. View Abstract
44. The role of nuclear receptor co-activator 4 in erythropoiesis (Reply to Nai et al.). Haematologica. 2019 12; 104(12):e585-e586. View Abstract
45. Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice. Blood. 2019 10 31; 134(18):1547-1557. View Abstract
46. The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. Am J Hum Genet. 2019 11 07; 105(5):947-958. View Abstract
47. Predictors of Successful HIV Care Re-engagement Among Persons Poorly Engaged in HIV Care. AIDS Behav. 2019 Sep; 23(9):2490-2497. View Abstract
48. Hepcidin is not essential for mediating testosterone's effects on erythropoiesis. Andrology. 2020 01; 8(1):82-90. View Abstract
49. The developmental stage of the hematopoietic niche regulates lineage in MLL-rearranged leukemia. J Exp Med. 2019 03 04; 216(3):527-538. View Abstract
50. A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion. Cancer Cell. 2019 02 11; 35(2):283-296.e5. View Abstract
51. NCOA4 maintains murine erythropoiesis via cell autonomous and non-autonomous mechanisms. Haematologica. 2019 07; 104(7):1342-1354. View Abstract
52. Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. Pediatr Dev Pathol. 2019 Jul-Aug; 22(4):315-328. View Abstract
53. The molecular genetics of sideroblastic anemia. Blood. 2019 01 03; 133(1):59-69. View Abstract
54. Caring for "Super-utilizers": Neoliberal Social Assistance in the Safety-net. Med Anthropol Q. 2019 06; 33(2):173-190. View Abstract
55. Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. Am J Hematol. 2018 09; 93(9):1194-1195. View Abstract
56. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. 2018 12; 103(12):2008-2015. View Abstract
57. Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. Haematologica. 2018 12; 103(12):e561-e563. View Abstract
58. Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. Blood. 2018 09 27; 132(13):1399-1412. View Abstract
59. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood. 2018 07 26; 132(4):448-452. View Abstract
60. RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of ß-thalassemia intermedia. Am J Hematol. 2018 Jun; 93(6):745-750. View Abstract
61. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest. 2017 Nov 01; 127(11):4090-4103. View Abstract
62. UBE2O remodels the proteome during terminal erythroid differentiation. Science. 2017 08 04; 357(6350). View Abstract
63. Ringed sideroblasts in ß-thalassemia. Pediatr Blood Cancer. 2017 05; 64(5). View Abstract
64. Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation. Cancer Cell. 2016 09 12; 30(3):404-417. View Abstract
65. A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding. Blood. 2016 10 20; 128(16):2089-2092. View Abstract
66. A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Blood. 2016 10 13; 128(15):1913-1917. View Abstract
67. The placenta: the forgotten essential organ of iron transport. Nutr Rev. 2016 07; 74(7):421-31. View Abstract
68. Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. Sci Rep. 2016 05 20; 6:26202. View Abstract
69. Effects of Testosterone on Erythropoiesis in a Female Mouse Model of Anemia of Inflammation. Endocrinology. 2016 07; 157(7):2937-46. View Abstract
70. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. View Abstract
71. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep. 2016; 28:49-57. View Abstract
72. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17; 126(25):2734-8. View Abstract
73. The ins and outs of erythroid heme transport. Haematologica. 2015 Jun; 100(6):703. View Abstract
74. Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. Pediatr Blood Cancer. 2015 Nov; 62(11):2047-9. View Abstract
75. Combination therapy with a Tmprss6 RNAi-therapeutic and the oral iron chelator deferiprone additively diminishes secondary iron overload in a mouse model of ß-thalassemia intermedia. Am J Hematol. 2015 Apr; 90(4):310-3. View Abstract
76. Pediatric aplastic anemia and refractory cytopenia: A retrospective analysis assessing outcomes and histomorphologic predictors. Am J Hematol. 2015 Apr; 90(4):320-6. View Abstract
77. Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis. Am J Hematol. 2015 May; 90(5):386-91. View Abstract
78. Screen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels. Biometals. 2015 Apr; 28(2):293-306. View Abstract
79. A competitive enzyme-linked immunosorbent assay specific for murine hepcidin-1: correlation with hepatic mRNA expression in established and novel models of dysregulated iron homeostasis. Haematologica. 2015 Feb; 100(2):167-77. View Abstract
80. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica. 2015 Jan; 100(1):42-8. View Abstract
81. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct 30; 124(18):2867-71. View Abstract
82. The genomic landscape of pediatric Ewing sarcoma. Cancer Discov. 2014 Nov; 4(11):1326-41. View Abstract
83. Indolent T-lymphoblastic proliferation with disseminated multinodal involvement and partial CD33 expression. Am J Surg Pathol. 2014 Sep; 38(9):1298-304. View Abstract
84. Hereditary xerocytosis revisited. Am J Hematol. 2014 Dec; 89(12):1142-6. View Abstract
85. SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1. Oncogene. 2015 Apr 16; 34(16):2115-24. View Abstract
86. Sideroblastic anemia: diagnosis and management. Hematol Oncol Clin North Am. 2014 Aug; 28(4):653-70, v. View Abstract
87. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood. 2014 Jul 17; 124(3):437-40. View Abstract
88. Modulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approaches. Hematol Oncol Clin North Am. 2014 Apr; 28(2):387-401. View Abstract
89. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. Am J Hematol. 2014 Mar; 89(3):315-9. View Abstract
90. Induced pluripotent stem cells with a mitochondrial DNA deletion. Stem Cells. 2013 Jul; 31(7):1287-97. View Abstract
91. The crystal structure of six-transmembrane epithelial antigen of the prostate 4 (Steap4), a ferri/cuprireductase, suggests a novel interdomain flavin-binding site. J Biol Chem. 2013 Jul 12; 288(28):20668-82. View Abstract
92. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 04; 122(1):112-23. View Abstract
93. A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2. Comp Med. 2013 Apr; 63(2):143-55. View Abstract
94. High-throughput tyrosine kinase activity profiling identifies FAK as a candidate therapeutic target in Ewing sarcoma. Cancer Res. 2013 May 01; 73(9):2873-83. View Abstract
95. Heme transport and erythropoiesis. Curr Opin Chem Biol. 2013 Apr; 17(2):204-11. View Abstract
96. HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis. Cell Metab. 2013 Feb 05; 17(2):261-70. View Abstract
97. The IRP1-HIF-2a axis coordinates iron and oxygen sensing with erythropoiesis and iron absorption. Cell Metab. 2013 Feb 05; 17(2):282-90. View Abstract
98. Identification and characterization of a novel murine allele of Tmprss6. Haematologica. 2013 Jun; 98(6):854-61. View Abstract
99. An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine ß-thalassemia intermedia. Blood. 2013 Feb 14; 121(7):1200-8. View Abstract
100. Mitochondrial heme: an exit strategy at last. J Clin Invest. 2012 Dec; 122(12):4328-30. View Abstract
101. Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts. Nature. 2012 Nov 22; 491(7425):608-12. View Abstract
102. Increased survival with enzalutamide in prostate cancer after chemotherapy. N Engl J Med. 2012 Sep 27; 367(13):1187-97. View Abstract
103. Pathogenesis of Langerhans cell histiocytosis. Annu Rev Pathol. 2013 Jan 24; 8:1-20. View Abstract
104. Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2. Am J Hematol. 2012 Jun; 87(6):588-95. View Abstract
105. Identifying, understanding and overcoming barriers to medication error reporting in hospitals: a focus group study. BMJ Qual Saf. 2012 May; 21(5):361-8. View Abstract
106. QTLs for murine red blood cell parameters in LG/J and SM/J F(2) and advanced intercross lines. Mamm Genome. 2012 Jun; 23(5-6):356-66. View Abstract
107. Murine mutants in the study of systemic iron metabolism and its disorders: an update on recent advances. Biochim Biophys Acta. 2012 Sep; 1823(9):1444-50. View Abstract
108. Design and validation of a high-throughput matrix-assisted laser desorption ionization time-of-flight mass spectrometry method for quantification of hepcidin in human plasma. Anal Chem. 2011 Nov 01; 83(21):8357-62. View Abstract
109. Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. Haematologica. 2012 Feb; 97(2):189-92. View Abstract
110. A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease. Blood. 2011 Nov 17; 118(20):5401-8. View Abstract
111. Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice. Blood. 2011 Oct 13; 118(15):4224-30. View Abstract
112. Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia. Biol Reprod. 2011 Oct; 85(4):690-701. View Abstract
113. Description of the development and validation of the Canadian Paediatric Trigger Tool. BMJ Qual Saf. 2011 May; 20(5):416-23. View Abstract
114. Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation. Hematology Am Soc Hematol Educ Program. 2011; 2011:525-31. View Abstract
115. Characterization of mitochondrial ferritin-deficient mice. Am J Hematol. 2010 Dec; 85(12):958-60. View Abstract
116. A tincture of hepcidin cures all: the potential for hepcidin therapeutics. J Clin Invest. 2010 Dec; 120(12):4187-90. View Abstract
117. T-lymphoblastic lymphoma cells express high levels of BCL2, S1P1, and ICAM1, leading to a blockade of tumor cell intravasation. Cancer Cell. 2010 Oct 19; 18(4):353-66. View Abstract
118. Transferrin is a major determinant of hepcidin expression in hypotransferrinemic mice. Blood. 2011 Jan 13; 117(2):630-7. View Abstract
119. Endogenous oncogenic Nras mutation promotes aberrant GM-CSF signaling in granulocytic/monocytic precursors in a murine model of chronic myelomonocytic leukemia. Blood. 2010 Dec 23; 116(26):5991-6002. View Abstract
120. Target-specific, histology-independent, randomized discontinuation study of lapatinib in patients with HER2-amplified solid tumors. Invest New Drugs. 2012 Apr; 30(2):695-701. View Abstract
121. Common variants at 10 genomic loci influence hemoglobin A1(C) levels via glycemic and nonglycemic pathways. Diabetes. 2010 Dec; 59(12):3229-39. View Abstract
122. Iron overload in patients with acute leukemia or MDS undergoing myeloablative stem cell transplantation. Biol Blood Marrow Transplant. 2011 Jun; 17(6):852-60. View Abstract
123. Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin. Blood. 2010 Dec 16; 116(25):5679-87. View Abstract
124. SBDS protein expression patterns in the bone marrow. Pediatr Blood Cancer. 2010 Sep; 55(3):546-9. View Abstract
125. Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia. Nat Med. 2010 Aug; 16(8):903-8. View Abstract
126. Potential biomarkers of bortezomib activity in mantle cell lymphoma from the phase 2 PINNACLE trial. Leuk Lymphoma. 2010 Jul; 51(7):1269-77. View Abstract
127. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010 Sep 16; 116(11):1919-23. View Abstract
128. Pathology of the liver in familial hemophagocytic lymphohistiocytosis. Am J Surg Pathol. 2010 Jun; 34(6):852-67. View Abstract
129. Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 2010 Jun; 137(11):1907-17. View Abstract
130. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood. 2010 May 06; 115(18):3817-26. View Abstract
131. How much do locked screws add to the fixation of "hybrid" plate constructs in osteoporotic bone? J Orthop Trauma. 2010 Mar; 24(3):163-9. View Abstract
132. High-throughput matrix-assisted laser desorption ionization-time-of-flight mass spectrometry method for quantification of hepcidin in human urine. Anal Chem. 2010 Feb 15; 82(4):1551-5. View Abstract
133. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010 Feb; 54(2):273-8. View Abstract
134. Safety of carotid endarterectomy in patients concurrently on clopidogrel. Ann Vasc Surg. 2009 Sep-Oct; 23(5):612-5. View Abstract
135. Emi1 maintains genomic integrity during zebrafish embryogenesis and cooperates with p53 in tumor suppression. Mol Cell Biol. 2009 Nov; 29(21):5911-22. View Abstract
136. Histiocytoses. Oncology of Infancy and Childhood (Orkin SH, Fisher D, Look AT, Lux SE, Ginsberg D, Nathan DG, editors). 2009. View Abstract
137. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009 Jun; 41(6):651-3. View Abstract
138. Oncogenic Kras-induced leukemogeneis: hematopoietic stem cells as the initial target and lineage-specific progenitors as the potential targets for final leukemic transformation. Blood. 2009 Feb 05; 113(6):1304-14. View Abstract
139. Iron metabolism and sideroblastic anemias. Nathan and Oski's Hematology of Infancy and Childhood (Orkin SH, Fisher D, Look AT, Lux SE, Ginsberg D, Nathan DG, editors). 2008. View Abstract
140. Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism. Blood. 2009 Feb 19; 113(8):1805-8. View Abstract
141. hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse. Blood. 2008 Nov 15; 112(10):4308-13. View Abstract
142. Structure of the membrane proximal oxidoreductase domain of human Steap3, the dominant ferrireductase of the erythroid transferrin cycle. Proc Natl Acad Sci U S A. 2008 May 27; 105(21):7410-5. View Abstract
143. Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins. Nature. 2008 Jun 19; 453(7198):1127-31. View Abstract
144. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet. 2008 May; 40(5):569-71. View Abstract
145. The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth. Nature. 2008 Mar 13; 452(7184):230-3. View Abstract
146. Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. Nature. 2008 Feb 28; 451(7182):1125-9. View Abstract
147. Aggressive Langerhans cell histiocytosis following T-ALL: clonally related neoplasms with persistent expression of constitutively active NOTCH1. Am J Hematol. 2008 Feb; 83(2):116-21. View Abstract
148. The regulation of hepcidin and its effects on systemic and cellular iron metabolism. Hematology Am Soc Hematol Educ Program. 2008; 151-8. View Abstract
149. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Mol Cell Biol. 2008 Feb; 28(3):949-57. View Abstract
150. Mutations in the serum/glucocorticoid regulated kinase 3 (Sgk3) are responsible for the mouse fuzzy (fz) hair phenotype. J Invest Dermatol. 2008 Mar; 128(3):730-2. View Abstract
151. Response: What's in a name?. Blood. 2007; 110(7):2771. View Abstract
152. CD4+/CD56+ hematodermic neoplasm ("blastic natural killer cell lymphoma"): neoplastic cells express the immature dendritic cell marker BDCA-2 and produce interferon. Am J Clin Pathol. 2007 Sep; 128(3):445-53. View Abstract
153. Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice. Nat Genet. 2007 Aug; 39(8):1025-32. View Abstract
154. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood. 2007 Apr 15; 109(8):3297-9. View Abstract
155. Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Blood. 2007 Apr 15; 109(8):3567-9. View Abstract
156. Immunosurveillance and survivin-specific T-cell immunity in children with high-risk neuroblastoma. J Clin Oncol. 2006 Dec 20; 24(36):5725-34. View Abstract
157. Retinal projections to the subcortical visual system in congenic albino and pigmented rats. Neuroscience. 2006 Dec; 143(3):895-904. View Abstract
158. Loss of the acyl-CoA binding protein (Acbp) results in fatty acid metabolism abnormalities in mouse hair and skin. J Invest Dermatol. 2007 Jan; 127(1):16-23. View Abstract
159. The Steap proteins are metalloreductases. Blood. 2006 Aug 15; 108(4):1388-94. View Abstract
160. The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. Hum Mol Genet. 2006 Mar 15; 15(6):953-64. View Abstract
161. Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster. EMBO J. 2006 Feb 08; 25(3):544-53. View Abstract
162. AKT induces erythroid-cell maturation of JAK2-deficient fetal liver progenitor cells and is required for Epo regulation of erythroid-cell differentiation. Blood. 2006 Mar 01; 107(5):1888-91. View Abstract
163. A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice. Nat Genet. 2005 Nov; 37(11):1270-3. View Abstract
164. Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Nat Genet. 2005 Nov; 37(11):1264-9. View Abstract
165. Erythropoietin stimulates phosphorylation and activation of GATA-1 via the PI3-kinase/AKT signaling pathway. Blood. 2006 Feb 01; 107(3):907-15. View Abstract
166. A mouse model of juvenile hemochromatosis. J Clin Invest. 2005 Aug; 115(8):2187-91. View Abstract
167. nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood. 2005 Nov 15; 106(10):3625-31. View Abstract
168. Cybrd1 (duodenal cytochrome b) is not necessary for dietary iron absorption in mice. Blood. 2005 Oct 15; 106(8):2879-83. View Abstract
169. Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia. J Clin Invest. 2005 Jun; 115(6):1562-70. View Abstract
170. Evidence for a protective role of the Gardos channel against hemolysis in murine spherocytosis. Blood. 2005 Aug 15; 106(4):1454-9. View Abstract
171. Failure to define window of time for autologous tumor vaccination in patients with newly diagnosed or relapsed acute lymphoblastic leukemia. Exp Hematol. 2005 Mar; 33(3):286-94. View Abstract
172. Patient safety culture measurement and improvement: a "how to" guide. Healthc Q. 2005; 8 Spec No:14-9. View Abstract
173. In vivo reduction of erythrocyte oxidant stress in a murine model of beta-thalassemia. Haematologica. 2004 Nov; 89(11):1287-98. View Abstract
174. Defective apoptosis and B-cell lymphomas in mice with p53 point mutation at Ser 23. EMBO J. 2004 Sep 15; 23(18):3689-99. View Abstract
175. SOD2-deficiency anemia: protein oxidation and altered protein expression reveal targets of damage, stress response, and antioxidant responsiveness. Blood. 2004 Oct 15; 104(8):2565-73. View Abstract
176. Identification of a novel mutation (C321X) in HJV. Blood. 2004 Oct 01; 104(7):2176-7. View Abstract
177. Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. Mol Genet Metab. 2003 Sep-Oct; 80(1-2):234-41. View Abstract
178. Coincident expression of the chemokine receptors CCR6 and CCR7 by pathologic Langerhans cells in Langerhans cell histiocytosis. Blood. 2003 Apr 01; 101(7):2473-5. View Abstract
179. Examination of the Bone marrow. Blood: Principles and Practice of Hematology. 2003; 59-79. View Abstract
180. Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell. 2002 Nov; 2(5):415-25. View Abstract
181. The genetics of inherited sideroblastic anemias. Semin Hematol. 2002 Oct; 39(4):270-81. View Abstract
182. Telomerase contributes to tumorigenesis by a telomere length-independent mechanism. . Proc Natl Acad Sci USA. 2002; 99(20):12606-12611. View Abstract
183. Telomerase contributes to tumorigenesis by a telomere length-independent mechanism. Proc Natl Acad Sci U S A. 2002 Oct 01; 99(20):12606-11. View Abstract
184. Immortalization and transformation of primary human airway epithelial cells by gene transfer. Oncogene. 2002 Jul 04; 21(29):4577-86. View Abstract
185. Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Blood. 2002 Nov 15; 100(10):3776-81. View Abstract
186. Lymphomas of the breast: primary and secondary involvement. Cancer. 2002 Jan 01; 94(1):6-13. View Abstract
187. Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency. EMBO J. 2001 Dec 03; 20(23):6909-18. View Abstract
188. Ineffective erythropoiesis in Stat5a(-/-)5b(-/-) mice due to decreased survival of early erythroblasts. Blood. 2001 Dec 01; 98(12):3261-73. View Abstract
189. Erythropoiesis in the absence of janus-kinase 2: BCR-ABL induces red cell formation in JAK2(-/-) hematopoietic progenitors. Blood. 2001 Nov 15; 98(10):2948-57. View Abstract
190. Characterization of a murine high-affinity thiamine transporter, Slc19a2. Mol Genet Metab. 2001 Sep-Oct; 74(1-2):273-80. View Abstract
191. Myelopoiesis in the zebrafish, Danio rerio. Blood. 2001 Aug 01; 98(3):643-51. View Abstract
192. Organized sports for children and preadolescents. Pediatrics. 2001 Jun; 107(6):1459-62. View Abstract
193. The spleen as a diagnostic specimen: a review of 10 years' experience at two tertiary care institutions. Cancer. 2001 Jun 01; 91(11):2001-9. View Abstract
194. A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. Genes Dev. 2001 Mar 15; 15(6):652-7. View Abstract
195. Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders. Blood. 2001 Feb 15; 97(4):1138-40. View Abstract
196. Human breast cancer cells generated by oncogenic transformation of primary mammary epithelial cells. Genes Dev. 2001 Jan 01; 15(1):50-65. View Abstract
197. The liver and iron. The Liver Biology and Pathobiology (Arias I, Boyer JL, Fausto N, Jakoby WB, Schachter D, and Shafritz DA, editors). 2001; 345-359. View Abstract
198. The Nramp2/DMT1 iron transporter is induced in the duodenum of microcytic anemia mk mice but is not properly targeted to the intestinal brush border. Blood. 2000 Dec 01; 96(12):3964-70. View Abstract
199. The molecular defect in hypotransferrinemic mice. Blood. 2000 Aug 01; 96(3):1113-8. View Abstract
200. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 2000 Feb 17; 403(6771):776-81. View Abstract
201. Commentary on: ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. J Pediatr Hematol Oncol. 1999 Sep-Oct; 21(5):353-5. View Abstract
202. The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood. 1999 Jul 01; 94(1):9-11. View Abstract
203. Iron transport across biologic membranes. Nutr Rev. 1999 Apr; 57(4):114-23. View Abstract
204. Molecular insights into mechanisms of iron transport. Curr Opin Hematol. 1999 Mar; 6(2):61-4. View Abstract
205. Iron and erythropoiesis: Lessons from anemic mice. Molecular Biology of Hematopoiesis. 1999; 6:363-370. View Abstract
206. Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption [commentary]. J. Ped. Hem. /Onc. 1999; 21(5):354-356. View Abstract
207. Mammalian iron transport: an unexpected link between metal homeostasis and host defense. J Lab Clin Med. 1998 Dec; 132(6):464-8. View Abstract
208. Splenic pathology in myelodysplasia: a report of 13 cases with clinical correlation. Am J Surg Pathol. 1998 Oct; 22(10):1255-66. View Abstract
209. The G185R mutation disrupts function of the iron transporter Nramp2. Blood. 1998 Sep 15; 92(6):2157-63. View Abstract
210. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell. 1998 Sep; 2(3):305-16. View Abstract
211. Hepatic iron overload in the age of hereditary hemochromatosis mutation analysis. Am J Clin Pathol. 1998 May; 109(5):505-7. View Abstract
212. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc Natl Acad Sci U S A. 1998 Feb 03; 95(3):1148-53. View Abstract
213. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. . Proc Natl Acad Sci USA. 1998; 95(3):1148-1153. View Abstract
214. Absence of dendritic reticulum cell staining is helpful for distinguishing T-cell rish B-cell lymphoma from lymphocyte predominance Hodgkin's Disease. Applied Immunochemistry. 1998; 6:16-22. View Abstract
215. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet. 1997 Aug; 16(4):383-6. View Abstract
216. Angiosarcoma. J Clin Oncol. 1997 Apr; 15(4):1708-9. View Abstract
217. Iron deficiency anemia associated with an error of iron metabolism in two siblings: A thirty year follow up. Hematology. 1996; 1:65-73. View Abstract
218. Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings: A Thirty Year Follow Up. Hematology. 1996; 1(1):65-73. View Abstract
219. Principles of management of basal and squamous cell carcinoma of the skin. Cancer. 1995 Jan 15; 75(2 Suppl):699-704. View Abstract
220. Breast cancer in elderly women. Cancer. 1994 Oct 01; 74(7 Suppl):2160-4. View Abstract
221. Dominant negative mutants of the transcription factor mXBP-1. 1993. View Abstract
222. Dominant negative mutants of transcription factor mXBP (CRE-BP1, ATF-2). New Biol. 1992 Apr; 4(4):360-8. View Abstract
223. Different epitope structures select distinct mutant forms of an antibody variable region for expression during the immune response. J Exp Med. 1991 Mar 01; 173(3):665-72. View Abstract
224. Studies on the 6-Aminopenicillanic acid, acyl-coenzyme A acyltransferase from P. chrysogenum and A. nidulans. 1991. View Abstract
225. Molecular characterization of the acyl-coenzyme A:isopenicillin N acyltransferase gene (penDE) from Penicillium chrysogenum and Aspergillus nidulans and activity of recombinant enzyme in Escherichia coli. J Bacteriol. 1990 Oct; 172(10):5908-14. View Abstract
226. Internal sequence analysis of proteins separated on polyacrylamide gels at the submicrogram level: improved methods, applications and gene cloning strategies. Electrophoresis. 1990 Jul; 11(7):537-53. View Abstract
227. Acyl coenzyme A: 6-aminopenicillanic acid acyltransferase from Penicillium chrysogenum and Aspergillus nidulans. FEBS Lett. 1990 Mar 26; 262(2):342-4. View Abstract
228. Molecular analysis of original antigenic sin. I. Clonal selection, somatic mutation, and isotype switching during a memory B cell response. J Exp Med. 1989 Oct 01; 170(4):1191-209. View Abstract
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