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Results 1 - 10 of 38 for DNA repair disease
  1. ZMYM2 gene 
    ... JK. ZNF198 protein, involved in rearrangement in myeloproliferative disease, forms complexes with the DNA repair-associated HHR6A/6B and RAD18 proteins. Oncogene. 2003 ...
    https://medlineplus.gov/genetics/gene/zmym2 - Genetics
  2. ERCC2 gene 
    ... Nadem C, Digiovanna JJ, Kraemer KH. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum ...
    https://medlineplus.gov/genetics/gene/ercc2 - Genetics
  3. MUTYH gene 
    ... MUTYH_HUMAN MYH Tests of MUTYH PubMed MutY DNA GLYCOSYLASE; MUTYH NCBI Gene ClinVar Cheadle JP, Sampson JR. Exposing the MYtH about base excision repair and human inherited disease. Hum Mol Genet. 2003 Oct 15;12 Spec ...
    https://medlineplus.gov/genetics/gene/mutyh - Genetics
  4. PNKP gene 
    ... affinity interaction with polynucleotide kinase/phosphatase (PNKP) during DNA ... (PNKP) mutations and neurologic disease. Mech Ageing Dev. 2017 Jan;161(Pt A): ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics
  5. BRCA2 gene 
    ... risk of having an aggressive form of the disease. They may also be at increased risk for other cancers.BRCA2 gene mutations likely reduce the BRCA2 protein's ability to repair DNA, allowing potentially damaging mutations to persist in various ...
    https://medlineplus.gov/genetics/gene/brca2 - Genetics
  6. RRM2B gene 
    ... RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct ... DNA replication and DNA repair in quiescent cells. Proc Natl Acad Sci U ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  7. HTT gene 
    ... that loss of the huntingtin protein's DNA repair function may result in the ... symptoms of Huntington's disease.As the altered HTT gene is passed from ...
    https://medlineplus.gov/genetics/gene/htt - Genetics
  8. SETX gene 
    ... 2, some researchers suggest that it disrupts DNA repair and can lead to an accumulation of ... ALS4 AOA2 KIAA0625 ...
    https://medlineplus.gov/genetics/gene/setx - Genetics
  9. APTX gene 
    ... protein allow the protein to interact with other DNA repair proteins to make repairs. At the site of ... the cell. A lack of functional aprataxin disrupts DNA repair and can lead to an accumulation of damage ...
    https://medlineplus.gov/genetics/gene/aptx - Genetics
  10. BLM gene 
    ... VA. Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging. Biogerontology. 2009 Jun;10( ... of the BLM helicase in replication fork management. DNA Repair (Amst). 2007 Jul 1;6(7):936-44. ...
    https://medlineplus.gov/genetics/gene/blm - Genetics
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