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1,990 results on '"Fanconi Anemia genetics"'

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1. Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

2. Q&A with Ying Wai Chan.

3. Why hematopoietic stem cells fail in Fanconi anemia: Mechanisms and models.

4. Case Report: A Novel Homozygous Variant in the SLX4 Gene Causes Fanconi Anemia.

5. Clinical and Biological Perspectives on Noncanonical Esophageal Squamous Cell Carcinoma in Rare Subtypes.

6. Unveiling Immunotherapy Evasion in Lung Cancer: The Role of Fanconi Anemia and Stemness Genes in Shaping an Immunosuppressive Microenvironment.

7. Identifying an AML Prognostic Model Using 10 Marker Genes from Single-Cell Transcriptome and Bulk Transcriptome Analysis.

8. Contribution of p53-dependent and -independent mechanisms to upregulation of p21 in Fanconi anemia.

9. Benign tumors and non-melanoma skin cancers in patients with Fanconi anemia.

10. Chemical Carcinogen (3-Methylcholanthrene)-induced Pleomorphic Rhabdomyosarcomas in Fanconi Anemia Fancd2-/-, Fancg-/- (C57BL/6), Fancd2-/- (129/Sv) Mice.

11. Longitudinal clinical manifestations of Fanconi anemia: A systematized review.

12. New Insights into the Fanconi Anemia Pathogenesis: A Crosstalk Between Inflammation and Oxidative Stress.

13. The Fanconi anemia pathway induces chromothripsis and ecDNA-driven cancer drug resistance.

14. FANCD2 genome binding is nonrandom and is enriched at large transcriptionally active neural genes prone to copy number variation.

15. Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.

16. The role of SLFN11 in DNA replication stress response and its implications for the Fanconi anemia pathway.

17. Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.

18. Hematopoiesis after anti-CD117 monoclonal antibody treatment in the settings of wild-type and Fanconi anemia mice.

19. The Fanconi anemia core complex promotes CtIP-dependent end resection to drive homologous recombination at DNA double-strand breaks.

20. Histone-methyltransferase KMT2D deficiency impairs the Fanconi anemia/BRCA pathway upon glycolytic inhibition in squamous cell carcinoma.

21. In Fanconi anemia, impaired accumulation of bone marrow neutrophils during emergency granulopoiesis induces hematopoietic stem cell stress.

22. Deciphering the role of post-translational modifications in fanconi anemia proteins and their influence on tumorigenesis.

23. Transformation of an abnormal karyotype to acute erythroid leukemia in a pediatric patient with Fanconi anemia: A case report.

24. Pediatric acute promyelocytic leukemia and Fanconi anemia: Case report and literature review.

25. The Compromised Fanconi Anemia Pathway in Prelamin A-Expressing Cells Contributes to Replication Stress-Induced Genomic Instability.

26. Fanconi Anaemia associated with café au lait spots: A rare case report.

27. The splicing factor CCAR1 regulates the Fanconi anemia/BRCA pathway.

28. Splicing regulation of DNA repair via CCAR1.

29. CCAR1 promotes DNA repair via alternative splicing.

30. A Nutrigenomic View on the Premature-Aging Disease Fanconi Anemia.

31. Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor-mimicking lesions in the brain and acute neurological deterioration.

32. Development of specific growth charts for children with Fanconi anemia.

33. ALDH2 mutations and defense against genotoxic aldehydes in cancer and inherited bone marrow failure syndromes.

34. Advanced Analysis and Validation of a microRNA Signature for Fanconi Anemia.

36. Integrated proteogenomic analysis for inherited bone marrow failure syndrome.

37. [Homozygous Variant of FANCM of the Fanconi Anemia Pathway Causes Premature Ovarian Insufficiency: Investigation of the Pathogenic Mechanism].

38. A minimal Fanconi Anemia complex in early diverging fungi.

39. Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.

40. Cytogenetic findings in Polish patients with suspected Fanconi anemia.

41. Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency.

42. Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study.

43. Deregulated protein homeostasis constrains fetal hematopoietic stem cell pool expansion in Fanconi anemia.

44. FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.

45. A Fanca knockout mouse model reveals novel Fancd2 function.

46. A murine model to evaluate immunotherapy effectiveness for human Fanconi anemia-mutated acute myeloid leukemia.

47. Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

48. [SLFN11 inhibition rescues the Fanconi anemia phenotype by stabilizing stalled replication forks].

49. Profiling salivary miRNA expression levels in Fanconi anemia patients - a pilot study.

50. The metabolic basis of inherited neutropenias.

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