Search

Your search keyword '"Splenomegaly genetics"' showing total 310 results

Search Constraints

Start Over You searched for: Descriptor "Splenomegaly genetics" Remove constraint Descriptor: "Splenomegaly genetics" Publication Type Academic Journals Remove constraint Publication Type: Academic Journals
310 results on '"Splenomegaly genetics"'

Search Results

1. Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.

2. Leukocytosis and Splenomegaly in a Neonate With NRAS Mutation.

3. Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.

4. Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4 .

5. Clinical features and next-generation sequencing landscape of essential thrombocythemia, prefibrotic primary myelofibrosis, and overt fibrotic primary myelofibrosis: a Chinese monocentric retrospective study.

6. A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.

7. Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis.

8. Interleukin-1 contributes to clonal expansion and progression of bone marrow fibrosis in JAK2V617F-induced myeloproliferative neoplasm.

9. Splenic clearance of rigid erythrocytes as an inherited mechanism for splenomegaly and natural resistance to malaria.

10. Inhibition of BTK and PI3Kδ impairs the development of human JMML stem and progenitor cells.

11. [Clinical phenotype and genotype of Gaucher disease in 14 children].

12. Study of Clinical, Hematological and Molecular Characteristics of Patients of Thalassemia and Hemoglobinopathies in Tertiary Care Hospital.

13. Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient.

14. Ggct (γ-glutamyl cyclotransferase) plays an important role in erythrocyte antioxidant defense and red blood cell survival.

15. Immunomodulatory Activity of Carboxymethyl Pachymaran on Immunosuppressed Mice Induced by Cyclophosphamide.

16. Galectin-9 regulates the threshold of B cell activation and autoimmunity.

17. Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice.

18. Bcl-3 inhibits lupus-like phenotypes in BL6/lpr mice.

19. Xylosyltransferase 2 deficiency and organ homeostasis.

20. Beclin 2 negatively regulates innate immune signaling and tumor development.

21. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.

22. A benzimidazole inhibitor attenuates sterile inflammation induced in a model of systemic autoinflammation in female mice.

23. The role of AGK in thrombocytopoiesis and possible therapeutic strategies.

24. High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.

25. T-cell prolymphocytic leukemia: Review of an entity and its differential diagnostic considerations.

26. A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis.

27. Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.

28. Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.

29. Predominant Role of Immunoglobulin G in the Pathogenesis of Splenomegaly in Murine Lupus.

30. IRF-5 Expression in Myeloid Cells Is Required for Splenomegaly in L. donovani Infected Mice.

31. Pathological roles of MRP14 in anemia and splenomegaly during experimental visceral leishmaniasis.

32. The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB : c.88G>C].

33. Association between Different Polymorphic Markers and β-Thalassemia Intermedia in Central Iran.

34. Case report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.

35. Primary myelofibrosis marrow-derived CD14+/CD34- monocytes induce myelofibrosis-like phenotype in immunodeficient mice and give rise to megakaryocytes.

36. PKN1 kinase-negative knock-in mice develop splenomegaly and leukopenia at advanced age without obvious autoimmune-like phenotypes.

37. MCM8- and MCM9 Deficiencies Cause Lifelong Increased Hematopoietic DNA Damage Driving p53-Dependent Myeloid Tumors.

38. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

39. Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age: a systematic review.

40. Notch Signaling in Nestin-Expressing Cells in the Bone Marrow Maintains Erythropoiesis via Macrophage Integrity.

41. Combined analysis of ZAP-70 and CD38 expression in sudanese patients with B-cell chronic lymphocytic leukemia.

42. RIPK1 can mediate apoptosis in addition to necroptosis during embryonic development.

43. Integrated analysis of microRNA and mRNA expression profiles in splenomegaly induced by non-cirrhotic portal hypertension in rats.

44. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

45. Captopril mitigates splenomegaly and myelofibrosis in the Gata1 low murine model of myelofibrosis.

46. The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis.

47. Allylpyrocatechol attenuates methotrexate-induced hepatotoxicity in a collagen-induced model of arthritis.

48. Understanding Splenomegaly in Myelofibrosis: Association with Molecular Pathogenesis.

49. HIF-1α hampers dendritic cell function and Th1 generation during chronic visceral leishmaniasis.

50. Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage.

Catalog

Books, media, physical & digital resources