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Results 11 - 20 of 74 for DNA repair disease
  1. Can changes in mitochondrial DNA affect health and development?: MedlinePlus Genetics 
    ... Because mitochondrial DNA has a limited ability to repair errors, these variants tend to build ... disease , and Parkinson's disease . Additionally, ...
    https://medlineplus.gov/.../mitochondrialconditions - Genetics
  2. What are genome editing and CRISPR-Cas9?: MedlinePlus Genetics 
    ... cut, researchers use the cell's own DNA repair machinery to add or delete ... treatment of human diseases. Currently, genome editing is used in cells and ...
    https://medlineplus.gov/.../genomicresearch/genomeediting - Genetics
  3. 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
  4. 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
  5. 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
  6. Trichothiodystrophy 
    ... of TFIIH complex within cells, which impairs both DNA repair and gene transcription. An inability to repair DNA ... gene does not appear to be involved in DNA repair. This protein interacts with another protein that is ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  7. 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
  8. Microcephaly, seizures, and developmental delay 
    ... in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010 Mar;42(3):245-9. ... PJ. Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability. EMBO J. 2015 ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  9. 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
  10. Bloom syndrome 
    ... 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/condition/bloom-syndrome - Genetics
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