DNA Repair-Deficiency Disorders (Chromosome Instability Syndromes)

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
Also Known As:
Chromosome Instability Syndromes; Chromosome Instability Syndrome; Deficient DNA Repair; DNA Repair Deficiency; DNA Repair Deficiency Disorders; DNA Repair, Deficient; DNA Repair-Deficiencies; DNA Repair-Deficiency Disorder; DNA Repairs, Deficient; Deficient DNA Repairs; Disorder, DNA Repair-Deficiency; Disorders, DNA Repair-Deficiency; Repair, Deficient DNA; Repairs, Deficient DNA; Syndrome, Chromosome Instability; Syndromes, Chromosome Instability; DNA Repair-Deficiency
Networked: 329 relevant articles (4 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neoplasms (Cancer)
2. Chromosome Aberrations (Chromosome Abnormalities)
3. Lung Neoplasms (Lung Cancer)
4. Xeroderma Pigmentosum (Kaposi's Disease)
5. Ataxia Telangiectasia (Louis Bar Syndrome)


1. van Steeg, Harry: 9 articles (09/2011 - 03/2003)
2. Sarasin, Alain: 7 articles (01/2010 - 10/2002)
3. Takeda, Shunichi: 6 articles (02/2016 - 05/2004)
4. Menck, Carlos Frederico Martins: 5 articles (08/2013 - 10/2002)
5. Luijten, Mirjam: 4 articles (09/2011 - 04/2006)
6. Beems, Rudolf B: 4 articles (10/2009 - 03/2003)
7. de Vries, Annemieke: 4 articles (10/2009 - 03/2003)
8. Wells, Peter G: 3 articles (01/2015 - 01/2011)
9. Niedernhofer, Laura J: 3 articles (03/2014 - 08/2012)
10. Kraemer, Kenneth H: 3 articles (09/2013 - 02/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to DNA Repair-Deficiency Disorders:
1. DNA (Deoxyribonucleic Acid)IBA
2. SmokeIBA
3. Viral DNAIBA
4. AcetaldehydeIBA
5. MutagensIBA
6. A-Form DNA (A-DNA)IBA
12/01/2013 - "Studies in DNA repair-deficient mice show that MAM perturbs brain development through a DNA damage-mediated mechanism. "
10/15/1992 - "Sequence data were obtained from 71 independently arising mutants recovered from DNA repair deficient xeroderma pigmentosum (XP) cells [XP12BE(SV40)] and 60 mutants recovered from a DNA repair proficient cell line (GM0637). "
10/01/1996 - "However, crc mutants do not have a DNA repair phenotype, nor can the crc gene complement Escherichia coli DNA repair-deficient strains. "
06/01/1985 - "From a comparison with alkylation-induced mutational spectra, we note a number of peculiarities of HMPA mutagenesis: there is no storage effect on HMPA-induced translocations; the ratio of F2-lethals: F3-lethals varies from 6:1 to 9:1, indicating a low capacity of HMPA for delayed mutations; the use of the DNA-repair-deficient mei-9L1 females instead of an excision-proficient control strain has no influence on the recovery of mutations (recessive lethals) induced in males; the high frequencies of chromosome loss (CL) induced by HMPA, which are mostly due to ring-X loss, leads us to speculate that one (or more) of its metabolites acts as a DNA-crosslinking agent. "
07/01/1990 - "We have isolated a DNA endonuclease, pI 7.6, from the chromatin of normal human lymphoblastoid cells which recognizes damage produced by UVC light, and have introduced this endonuclease into UVC-irradiated XPA cells in culture to determine whether it can restore their markedly deficient DNA repair-related unscheduled DNA synthesis (UDS). "
7. Cisplatin (Platino)FDA LinkGeneric
8. Interleukin-12 (IL 12)IBA
9. Plasminogen Activators (Plasminogen Activator)IBA
10. Lamin Type A (Lamin A)IBA

Therapies and Procedures

1. Aftercare (After-Treatment)
2. Drug Therapy (Chemotherapy)
3. Radiotherapy
4. Immunomodulation
5. Transplants (Transplant)