Mutation of the RAD51C gene in a Fanconi anemia–like disorder

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Items 101–200 of 408

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5. Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs
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8. Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility
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9. Tissue specificity of DNA damage response and tumorigenesis
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10. Structural insights into BCDX2 complex function in homologous recombination
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11. The Role of Fanconi Anemia/BRCA Genes in Zebrafish Sex Determination
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12. TNF-α signaling in Fanconi anemia
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13. REV1 and DNA polymerase zeta in DNA interstrand crosslink repair
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14. Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing
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15. FANCP/SLX4
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16. Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling
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17. Functional and physical interaction between the mismatch repair and FA-BRCA pathways
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18. RETRACTED ARTICLE: RNA interferences targeting the Fanconi anemia/BRCA pathway upstream genes reverse cisplatin resistance in drug-resistant lung cancer cells
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19. RAD51C germline mutations in breast and ovarian cancer patients
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20. The FANC/BRCA Pathway Releases Replication Blockades by Eliminating DNA Interstrand Cross-Links
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21. Dermatological manifestations of inherited cancer syndromes in children
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22. A novel interplay between the Fanconi anemia core complex and ATR-ATRIP kinase during DNA cross-link repair
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24. DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms
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25. A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer: Table 1
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26. A Boolean network model of the FA/BRCA pathway
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27. MRE11-Dependent Instability in Mitochondrial DNA Fork Protection Activates cGAS Inflammation
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28. High-resolution functional mapping of RAD51C by saturation genome editing
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29. Hereditary breast cancer syndromes and genetic testing
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30. Recent insights into inherited bone marrow failure syndromes
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31. Evolutionary and Functional Analysis of the Invariant SWIM Domain in the Conserved Shu2/SWS1 Protein Family fromSaccharomyces cerevisiaetoHomo sapiens
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32. RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles
    Michael A. Longo, Sunetra Roy, Yue Chen, Karl-Heinz Tomaszowski, Andrew S. Arvai, Jordan T. Pepper, Rebecca A. Boisvert, Selvi Kunnimalaiyaan, Caezanne Keshvani, David Schild et al. · 2023 · Nature Communications
33. Genetic testing for RAD51C mutations: in the clinic and community
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34. The Role of the Human SWI5-MEI5 Complex in Homologous Recombination Repair
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35. DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome
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36. Anorectal malformations
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37. Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer
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38. The Fanconi anemia pathway and DNA interstrand cross-link repair
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39. A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families
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40. Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges
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41. Overexpression of IL-3Rα on CD34+CD38− stem cells defines leukemia-initiating cells in Fanconi anemia AML
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42. BRCA1-mediated repression of mutagenic end-joining of DNA double-strand breaks requires complex formation with BACH1
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43. FANCJ is essential to maintain microsatellite structure genome-wide during replication stress
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44. Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase
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45. Convergence of Rad6/Rad18 and Fanconi Anemia Tumor Suppressor Pathways upon DNA Damage
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46. p38 MAPK inhibition suppresses the TLR-hypersensitive phenotype in FANCC- and FANCA-deficient mononuclear phagocytes
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47. RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families
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48. An abnormal bone marrow microenvironment contributes to hematopoietic dysfunction in Fanconi anemia
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49. Regulation of the activation of the Fanconi anemia pathway by the p21 cyclin-dependent kinase inhibitor
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50. Fancf‐deficient mice are prone to develop ovarian tumours
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51. DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity
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52. Homologous recombination–deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants
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56. Direct Inhibition of TNF-α Promoter Activity by Fanconi Anemia Protein FANCD2
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57. Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan
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58. Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer
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59. Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes
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60. A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
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61. FANCA and FANCC modulate TLR and p38 MAPK–dependent expression of IL-1β in macrophages
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63. Myoclonic epilepsy in a child with 17q22–q23.1 deletion
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64. FANCL ubiquitinates β-catenin and enhances its nuclear function
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65. The Fanconi anemia pathway in replication stress and DNA crosslink repair
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66. The Shu complex is a conserved regulator of homologous recombination
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67. Constitutive role of the Fanconi anemia D2 gene in the replication stress response
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68. Fanconi Anemia Complementation Group A (FANCA) Protein Has Intrinsic Affinity for Nucleic Acids with Preference for Single-stranded Forms
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71. Promotion of Homologous Recombination by SWS-1 in Complex with RAD-51 Paralogs in Caenorhabditis elegans
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73. Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans
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74. Defects in homologous recombination repair behind the human diseases: FA and HBOC
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75. C. elegans as a model organism to study female reproductive health
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76. Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability
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77. Fanconi anemia and the cell cycle: new perspectives on aneuploidy
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79. A new nuclease member of the FAN club
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80. Exploring the link between MORF4L1 and risk of breast cancer
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81. Cancer TARGETases: DSB repair as a pharmacological target
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82. Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications
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83. Rad18 is required for functional interactions between FANCD2, BRCA2, and Rad51 to repair DNA topoisomerase 1-poisons induced lesions and promote fork recovery
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84. Exploiting the Fanconi Anemia Pathway for Targeted Anti-Cancer Therapy
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85. Rad51C is essential for embryonic development and haploinsufficiency causes increased DNA damage sensitivity and genomic instability
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87. FANCJ is essential to maintain microsatellite structure genome-wide during replication stress
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88. Challenges in the identification and use of rare disease-associated predisposition variants
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89. FAVL impairment of the Fanconi anemia pathway promotes the development of human bladder cancer
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94. Inhibition of non-homologous end joining in Fanconi Anemia cells results in rescue of survival after interstrand crosslinks but sensitization to replication associated double-strand breaks
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96. Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing
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97. Towards a Molecular Understanding of the Fanconi Anemia Core Complex
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98. Hepatoblastoma in a 4‐year‐old girl with Fanconi anaemia
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