dna repair deficiency disorders

Summary

Summary: Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.

Top Publications

  1. Forsythe E, Wild R, Sellick G, Houlston R, Lehmann A, Wakeling E. A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. Am J Med Genet A. 2009;149A:2075-9 pubmed publisher
  2. Au W, Giri A, Ruchirawat M. Challenge assay: A functional biomarker for exposure-induced DNA repair deficiency and for risk of cancer. Int J Hyg Environ Health. 2010;213:32-9 pubmed publisher
    ..Therefore, the challenge assay is a useful functional biomarker for population studies. Details of the challenge assay and its application will be presented in this review. ..
  3. Kratz C, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer C, et al. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. J Med Genet. 2009;46:418-20 pubmed publisher
    ..Subsequent mutation analysis will lead to a definitive diagnosis of the underlying disorder. ..
  4. Peddi P, Loftin C, Dickey J, Hair J, Burns K, Aziz K, et al. DNA-PKcs deficiency leads to persistence of oxidatively induced clustered DNA lesions in human tumor cells. Free Radic Biol Med. 2010;48:1435-43 pubmed publisher
    ..The information rendered will be important for understanding not only cancer etiology in the presence of an NHEJ deficiency but also cancer treatments based on the induction of oxidative stress and inhibition of cluster repair. ..
  5. Suzumura H, Arisaka O. Cerebro-oculo-facio-skeletal syndrome. Adv Exp Med Biol. 2010;685:210-4 pubmed
    ..All mutations have been found in Cockayne syndrome gene, CSB, xeroderma pigmentosum genes, XPD and XPG and ERCC1 gene involved in the transcription-coupled NER pathway. ..
  6. Slatter M, Gennery A. Primary immunodeficiency syndromes. Adv Exp Med Biol. 2010;685:146-65 pubmed
    ..We describe the mechanisms involved in the development of adaptive immunity relating to DNA repair and describe the clinical consequences and treatment developments of primary immunodeficiency resulting from such defects. ..
  7. Liu J, Baynam G. Cornelia de Lange syndrome. Adv Exp Med Biol. 2010;685:111-23 pubmed
    ..Here, we will discuss the biology ofcohesin and its associated factors, with emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS related proteins. ..
  8. Lambert W, Gagna C, Lambert M. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome. Adv Exp Med Biol. 2010;685:106-10 pubmed
    ..These patients are designated as having trichothiodystrophy-photosensitive (TTDP). Non-photosensitivepatients are designated as having trichothiodystrophy-nonphotosensitive (TTDN). Skin cancer is very rare in sun-sensitive TTD. ..
  9. Walton C, Interthal H, Hirano R, Salih M, Takashima H, Boerkoel C. Spinocerebellar ataxia with axonal neuropathy. Adv Exp Med Biol. 2010;685:75-83 pubmed
    ..However, our current understanding of the biology of Tdp1 function in humans is limited and does not allow us to fully elucidate the disease mechanism. ..

More Information

Publications22

  1. 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. ..
  2. 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. ..
  3. 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. ..
  4. 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. ..
  5. 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. ..
  6. Habib S. Tuberous sclerosis complex and DNA repair. Adv Exp Med Biol. 2010;685:84-94 pubmed
  7. 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...
  8. Pollard J, Gatti R. Clinical radiation sensitivity with DNA repair disorders: an overview. Int J Radiat Oncol Biol Phys. 2009;74:1323-31 pubmed publisher
  9. Kracker S, Gard├Ęs 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. ..
  10. 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. ..
  11. 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. ..
  12. 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. ..
  13. 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. ..