227 results on '"Campagna, Dean R."'
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2. A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion
3. Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and Infection
4. Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia
5. Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
6. UBE2O remodels the proteome during terminal erythroid differentiation
7. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
8. A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
9. Screen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels
10. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
11. Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in α-spectrin–deficient red cells
12. Pyridoxine Response in Mouse Alas2 Knock-in Models of X-Linked Sideroblastic Anemia and X-Linked Protoporphyria
13. Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6
14. A synonymous coding variant that alters ALAS2 splicing and causes X‐linked sideroblastic anemia
15. SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature
16. QTLs for murine red blood cell parameters in LG/J and SM/J F2 and advanced intercross lines
17. hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse
18. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations
19. Corrigendum: Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts
20. Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts
21. A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hemotological and skeletal phenotype of flexed-tail (f/f) mice
22. Characterization of mitochondrial ferritin-deficient mice
23. Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations
24. nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse
25. Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
26. The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron–sulfur cluster biogenesis
27. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
28. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
29. The molecular defect in hypotransferrinemic mice
30. Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders
31. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
32. Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity
33. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
34. RINGED SIDEROBLASTS IN β-THALASSEMIA
35. Chasing a moving target: Detection of mitochondrial heteroplasmy for clinical diagnostics
36. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
37. Ringed sideroblasts in β‐thalassemia
38. Physiologic Expression of Sf3b1 K700E Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation
39. Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations
40. A Novel Conditional Knockout of the Diamond Blackfan Anemia Gene Rpl11 Shows Failure of Erythropoiesis, a Marked Increase in BFU-E Progenitors By Phenotype That Proliferate Poorly in Culture, and Activation of p53 Target Genes
41. Ringed sideroblasts in β-thalassemia.
42. Normalizing hepcidin predicts TMPRSS6mutation status in patients with chronic iron deficiency
43. QTLs for murine red blood cell parameters in LG/J and SM/J F 2 and advanced intercross lines
44. Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism
45. X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations
46. A mouse model of mitochondrial myopathy and sideroblastic anemia
47. Erratum: Corrigendum: Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts
48. A synonymous coding variant that alters ALAS2 splicing and causes X‐linked sideroblastic anemia.
49. Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors
50. The Clinical and Genetic Spectrum of TMPRSS6 Mutations Leading to Inappropriate Hepcidin Expression and Iron Refractory Iron Deficiency Anemia (IRIDA).
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