DNA Repair-Deficiency Disorders (Chromosome Instability Syndromes)

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67 relevant articles (1 outcomes, 2 trials/studies) found for this Disease

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

Also Known As:

Chromosome Instability Syndromes; Chromosome Instability Syndrome; DNA Repair-Deficiency; Defic DNA Repair; DNA Repair Deficiency; DNA Repair Deficiency Disorders; DNA Repair, Defic; DNA Repair-Deficiencies; DNA Repair-Deficiency Disorder; DNA Repairs, Defic; Defic DNA Repairs; Disorder, DNA Repair-Deficiency; Disorders, DNA Repair-Deficiency; Repair, Defic DNA; Repairs, Defic DNA; Syndrome, Chromosome Instability; Syndromes, Chromosome Instability

Relationship Network

Disease Context: Research Results

Nutritional and Metabolic Diseases

Metabolic Diseases: 1264

DNA Repair-Deficiency Disorders: 67

Severe Combined Immunodeficiency: 2995

Ataxia Telangiectasia: 1380

Xeroderma Pigmentosum: 1262

Fanconi Anemia: 709

Werner Syndrome: 403

Hereditary Nonpolyposis Colorectal Neoplasms: 278

Cockayne Syndrome: 206

Bloom Syndrome: 127

Nijmegen Breakage Syndrome: 88

Li-Fraumeni Syndrome: 73

Rothmund-Thomson Syndrome: 35

Related Diseases

1.	Neoplasms (Cancer)
2.	Syndrome
3.	DNA Damage
4.	Xeroderma Pigmentosum (Kaposi's Disease)
5.	Ataxia Telangiectasia (Louis Bar Syndrome)
20 Diseases and 24 more articles analyzed in the Research Interface, order at left...

Experts

1.	Palitti, Fabrizio: 2 articles (01/2008 - 01/2008)
2.	Natarajan, Adayapalam T: 2 articles (01/2008 - 01/2008)
3.	Banerjee, Mayukh: 1 article (07/2008)
4.	Sarma, Nilendu: 1 article (07/2008)
5.	Giri, Ashok K: 1 article (07/2008)
6.	Mukherjee, Anita: 1 article (07/2008)
7.	Biswas, Rupanwita: 1 article (07/2008)
8.	Roy, Jyoeeta: 1 article (07/2008)
9.	Mancinelli, Pierluigi: 1 article (01/2008)
10.	Meschini, Roberta: 1 article (01/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to DNA Repair-Deficiency Disorders:

1.	Viral DNAIBA 01/01/1996 - "However, a significant reduction in HCR of viral DNA synthesis for UV-irradiated Ad could not be detected in series of UV-sensitive PV mutants from complementation groups 1, 5, 9 and 10 derived from parental CHO-K1 cells, which harbour relatively small DNA repair deficiencies" Get all the results and reference details, order at left...
2.	DNA (Deoxyribonucleic Acid)IBA 01/01/1991 - "In this study, a sensitive host cell reactivation (HCR) technique was used to examine the repair capacity for DNA damaged by sunlamp exposure in fibroblast strains derived from 5 normal individuals and 8 patients representing three different diseases associated with DNA repair deficiencies" 11/01/1995 - "In each of the syndromes chromosome instability exists in the form of increased frequencies of breaks and interchanges occurring either spontaneously or following treatment with various DNA-damaging agents" 08/01/1991 - "The exacerbation by X-rays of the effects of DNA repair deficiencies on genetic damage indicates that both repair mechanisms are required for processing DNA lesions induced by the combined effect of P activity and ionizing radiation." 05/01/1982 - "DNA-repair deficiencies do not affect intercalator-induced cytotoxicity or DNA scission in human cells." 11/24/1978 - "This decrease is related to the observed DNA repair deficiency indicated by the delayed closing of repair DNA strands following UV irradiation" Get all the results and reference details, order at left...
3.	Cisplatin (Platino)FDA LinkGeneric 01/01/1989 - "This study demonstrates that whilst some DNA-repair deficiencies can be detected using host cell reactivation of cisplatin (CDDP)-treated adenovirus (Ad5), not all repair deficiencies affected replication of CDDP-treated Ad5 in human cells" 03/18/2008 - "Although the Mlh1(G67R) mutation resulted in DNA repair deficiency in homozygous mutant mice, it did not affect the MMR-mediated cellular response to DNA damage, including the apoptotic response of epithelial cells in the intestinal mucosa to cisplatin, which was defective in Mlh1(-/-) mice but remained normal in Mlh1(G67R/G67R) mice" 05/01/1999 - "Mismatch DNA repair deficiency is associated with resistance to certain major groove alkylating agents including methylating agents and cisplatin" Get all the results and reference details, order at left...
4.	Proteins (Proteins, Gene)IBA 06/01/2006 - "Molecular interactions among FA proteins and responsible proteins for other chromosome instability syndromes (BLM, NBS1, MRE11, ATM, and ATR) have also been found" 06/01/2001 - "Therefore the attenuated expression of some proteins in differentiated cells is most likely explained by a mechanism distinct from DNA repair deficiency" 05/01/2008 - "Nevertheless, the identification of mutations in genes that encode proteins that function in DNA repair and DNA damage response in human hereditary DNA repair deficiency syndromes and ataxic disorders is establishing a mechanistic precedent that clearly links DNA damage and DNA repair abnormalities with progressive neurodegeneration" 06/01/2000 - "Recently, findings regarding a group of cancer predisposition and chromosome instability syndromes, Nijmegen breakage syndrome (NBS), the ataxia-telangiectasia-like disorder (A-TLD) and ataxia telangiectasia have shed light on the unexpected role of recombinational DNA repair proteins in DNA-damage-dependent cell-cycle regulation" 05/01/1988 - "The results suggest that the sbcB/xonA gene product is a bi- or multifunctional protein that interacts with single-stranded DNA and possibly with other proteins in the suppression of genetic recombination and DNA-repair deficiencies in recB and recC mutants." Get all the results and reference details, order at left...
5.	MutagensIBA 01/01/1977 - "Development and applications of Bacillus subtilis test systems for mutagens, involving DNA-repair deficiency and suppressible auxotrophic mutations." 11/15/2003 - "Some of these DNA repair deficiencies are manifested at the level of the mitotic chromosome as increased breakage, particularly after treatment with specific mutagens" 01/01/1998 - "There are a number of possible mechanisms of genetic instability, some internal to cancer cells (mutation, amplification, mutator phenotypes, DNA repair deficiencies) and some present in the tumor microenvironment (endogenous mutagens)" 01/01/1993 - "The paper also provides evidence for the unique protective action of interferons against various mutagens and reveals their activity depending on the genotype of cells, in some DNA repair-deficiency cells, interferons failed to act" Get all the results and reference details, order at left...
6.	Complementary DNA (cDNA)IBA 10/01/1995 - "We report here the construction of a retroviral vector (LXPDSN) containing the XPD (ERCC2) cDNA, which fully complements the DNA repair deficiency of primary skin fibroblasts" 09/01/2008 - "We report the case of an 83-year-old French woman with multiple melanomas showing a severe DNA repair deficiency, corrected after transfection by XPC cDNA" 08/25/1998 - "Finally, to characterize the XPG DNA repair deficiency in these cell lines, an episomal expression vector containing wild-type XPG cDNA was used to correct UV-induced damage in a beta-galactosidase reporter gene." Get all the results and reference details, order at left...
7.	RNA (Ribonucleic Acid)IBA 01/01/2002 - "Differential suppression of DNA repair deficiencies of Yeast rad50, mre11 and xrs2 mutants by EXO1 and TLC1 (the RNA component of telomerase)." 10/01/1997 - "After transduction, the complete correction of DNA repair deficiency and functional expression of the transgenes were monitored by UV survival, unscheduled DNA synthesis and recovery of RNA synthesis, and Western blots" 04/01/1996 - "We further demonstrated that the LFS strains are impaired in the recovery of both RNA and replicative DNA syntheses after UV treatment, two molecular anomalies of the DNA repair deficiency disorders xeroderma pigmentosum and Cockayne's syndrome" Get all the results and reference details, order at left...
8.	Telomerase (Telomerase Reverse Transcriptase)IBA 11/22/2004 - "These results support the notion that absence of telomerase and short telomeres in combination with DNA repair deficiencies accelerate the aging process without impacting on tumorigenesis." 01/01/2002 - "Differential suppression of DNA repair deficiencies of Yeast rad50, mre11 and xrs2 mutants by EXO1 and TLC1 (the RNA component of telomerase)." Get all the results and reference details, order at left...
9.	Carbon MonoxideIBA 02/01/2007 - "Researchers and clinicians interested in human diseases of DNA repair deficiency and premature aging gathered at the National Conference Center in Lansdowne, Virginia on 5-8 September 2006 to attend a workshop co-organized by Vilhelm Bohr (National Institute of Aging) and Kenneth Kraemer (National Cancer Institute)" 01/01/2001 - "I point to the shared DNA repair deficiency of certain cancer-prone syndromes and HLA-linked AID, their occasional co-occurrence, and their demonstrably exceptional immunity against solid tumors" Get all the results and reference details, order at left...
10.	Alkylating AgentsIBA 10/01/1990 - "This DNA repair deficiency renders the stain phenotypically sensitive to treatment with alkylating agents" 05/01/1999 - "Mismatch DNA repair deficiency is associated with resistance to certain major groove alkylating agents including methylating agents and cisplatin" Get all the results and reference details, order at left...
54 Drugs and Important Bio-Agents and 67 more articles analyzed in the Research Interface, order at left...

Therapies and Procedures

1.	Aftercare (After-Treatment) 11/15/2003 - "Some of these DNA repair deficiencies are manifested at the level of the mitotic chromosome as increased breakage, particularly after treatment with specific mutagens" 01/01/1983 - "The gene locus assignments were taken from a recent review (McKusick 1982); the chromosomal distances were those estimated by Hager et al. (1982) from the frequencies of reunion figures between specific chromosomes as observed in chromosome instability syndromes (Fanconi anemia, Bloom syndrome) and after treatment with Trenimon" Get all the results and reference details, order at left...
2.	Transplants (Transplant) 09/15/2004 - "The ability of retinoic acid to regulate the expression of proapoptotic genes and to sensitize KCs to apoptosis may play a role in their prevention of NMSC in transplant patients and patients with DNA-repair deficiencies." Get all the results and reference details, order at left...
3.	Anesthesia 02/01/1998 - "In patients with DNA repair deficiencies anesthesia with enflurane may induce irreversible DNA damage." Get all the results and reference details, order at left...
3 Therapies and Procedures and 4 more articles analyzed in the Research Interface, order at left...

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