dna repair deficiency disorders
Summary: Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
- Slatter M, Gennery A. Primary immunodeficiencies associated with DNA-repair disorders. Expert Rev Mol Med. 2010;12:e9 pubmed publisher..We describe the mechanisms involved in the development of adaptive immunity relating to DNA repair, and the clinical consequences and treatment of the primary immunodeficiency resulting from such defects. ..
- Shen J, Gilmore E, Marshall C, Haddadin M, Reynolds J, Eyaid W, et al. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010;42:245-9 pubmed publisher..Unlike other DNA repair defects that affect humans, PNKP mutations universally cause severe seizures. The neurological abnormalities in individuals with MCSZ may reflect a role for PNKP in several DNA repair pathways. ..
- Poulogiannis G, Frayling I, Arends M. DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome. Histopathology. 2010;56:167-79 pubmed publisher..Identification of the gene targets that become mutated in MMR-deficient tumours may explain, at least in part, some of the clinical, pathological and biological features of MSI-H CRCs and holds promise for developing novel therapeutics. ..
- George K, Hada M, Jackson L, Elliott T, Kawata T, Pluth J, et al. Dose response of gamma rays and iron nuclei for induction of chromosomal aberrations in normal and repair-deficient cell lines. Radiat Res. 2009;171:752-63 pubmed publisher..The differences found between AT and NBS cells at lower doses suggest important questions about the applicability of observations of radiation sensitivity at high doses to low-dose exposures. ..
- Foresta M, Ropolo M, Degan P, Pettinati I, Kow Y, Damonte G, et al. Defective repair of 5-hydroxy-2'-deoxycytidine in Cockayne syndrome cells and its complementation by Escherichia coli formamidopyrimidine DNA glycosylase and endonuclease III. Free Radic Biol Med. 2010;48:681-90 pubmed publisher..Hence, the expression of a single enzyme, FPG from E. coli, stably corrects the delayed removal of both oxidized purines and oxidized pyrimidines in CS cells. ..
- Habib S. Tuberous sclerosis complex and DNA repair. Adv Exp Med Biol. 2010;685:84-94 pubmed
- Oh D, Spivak G. Hereditary photodermatoses. Adv Exp Med Biol. 2010;685:95-105 pubmed..Special emphasis will be placed on the relatively recently described UV-sensitive syndrome...
- Kracker S, Gardès P, Durandy A. Inherited defects of immunoglobulin class switch recombination. Adv Exp Med Biol. 2010;685:166-74 pubmed..Novel findings are awaited from the study ofyet-genetically undefined CSR-deficiencies, probably leading to the identification of AID cofactor(s) and/or proteins involved in CSR-induced DNA repair. ..
- Chistiakov D. Ligase IV syndrome. Adv Exp Med Biol. 2010;685:175-85 pubmed..As a consequence, patients with LIG4 syndrome frequently develop multiple immune abnormalities, clinically overlapping with severe combined immunodeficiency syndrome. ..
- Sari N, Akyuz C, Aktas D, Gumruk F, Orhan D, Alikasifoglu M, et al. Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer. 2009;53:208-10 pubmed publisher..This is a novel presentation of Fanconi anemia with this cytogenetic abnormality. ..
- Silva S, Tomar M, Paulo C, Gomes B, Azevedo A, Teixeira V, et al. Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51. Cancer Epidemiol. 2010;34:85-92 pubmed publisher..Therefore, in our study the potential protective role of the variant allele of XRCC2 (Ex3+442G>A, R188H, rs3218536), in never breast fed women, might be related with a more efficient DNA repair activity. ..
- Nahas S, Gatti R. DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity'. Curr Opin Allergy Clin Immunol. 2009;9:510-6 pubmed publisher..Recognizing compromised genome stability is important but difficult. We review the evidence for correlations between DSB repair, abnormal colony formation, clinical radiosensitivity and other laboratory methods. ..