222 results on '"Rio-Machin A"'
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2. Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
3. SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS
4. Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes
5. Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41
6. The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes
7. Acquired somatic variants in inherited myeloid malignancies
8. The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes
9. A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure
10. SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS
11. GATA2 deficiency syndrome: A compensatory mechanism gone awry?
12. Endogenous retroviruses are a source of enhancers with oncogenic potential in acute myeloid leukaemia
13. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
14. P405: INHIBITION OF CKS1-DEPENDENT PROTEOSTASIS REVEALS VULNERABILITIES IN LEUKAEMIC STEM CELLS WITH CONCOMITANT PROTECTION OF HEALTHY HAEMATOPOIETIC STEM CELLS
15. SCD inhibition eradicates AML displaying high de novo fatty acid desaturation and synergizes with chemotherapy
16. Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants
17. GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML
18. Endogenous retroviruses are a source of enhancers with oncogenic potential in acute myeloid leukaemia
19. Non-coding mutations at enhancer clusters contribute to pancreatic ductal adenocarcinoma
20. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
21. Germline ERCC excision repair 6 like 2 ( <scp> ERCC6L2 </scp> ) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment
22. Genomics and Diagnostics in Acute Myeloid Leukaemia
23. OC 11 - SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS
24. Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells
25. Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma
26. Deep Multi-Omics Profiling in Cytogenetically Poor-Risk AML
27. Inhibition of Stearoyl-CoA Desaturase Has Anti-Leukemic Properties in Acute Myeloid Leukemia
28. A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation
29. Inherited predisposition to MDS/AML
30. Transmission of diffuse large B-cell lymphoma by an allogeneic stem-cell transplant
31. DDX41: the poster child for familial AML
32. Acquired somatic variants in inherited myeloid malignancies
33. Stearoyl-CoA desaturase inhibition is toxic to acute myeloid leukemia displaying high levels of the de novo fatty acid biosynthesis and desaturation
34. Deep Multi-Omics Profiling in Cytogenetically Poor-Risk AML
35. Inhibition of Stearoyl-CoA Desaturase Has Anti-Leukemic Properties in Acute Myeloid Leukemia
36. Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in RUNX1, GATA2 and DDX41
37. Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes
38. ATM serine/threonine kinase germline mutations in chronic lymphocytic leukaemia come in different flavours
39. Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment
40. ATM serine/threonine kinase germline mutations in chronic lymphocytic leukaemia come in different flavours
41. DDX41: the poster child for familial AML
42. Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
43. CKS1 inhibition depletes leukemic stem cells and protects healthy hematopoietic stem cells in acute myeloid leukemia
44. A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation
45. CKS1 inhibition depletes leukemic stem cells and protects healthy hematopoietic stem cells in acute myeloid leukemia
46. P405: INHIBITION OF CKS1-DEPENDENT PROTEOSTASIS REVEALS VULNERABILITIES IN LEUKAEMIC STEM CELLS WITH CONCOMITANT PROTECTION OF HEALTHY HAEMATOPOIETIC STEM CELLS
47. The molecular pathogenesis of the NUP98-HOXA9 fusion protein in acute myeloid leukemia
48. Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene‐CanVar and the NHS England Haematological Oncology Working Group.
49. Correction: Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma
50. A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure
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