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Results 11 - 20 of 28 for DNA repair disease
  1. Schimke immuno-osseous dysplasia 
    ... damage. When DNA replication stalls, the SMARCAL1 proteins repair DNA damage by reattaching the two strands of DNA' ... genes.The altered or missing SMARCAL1 protein cannot repair DNA damage, which stalls DNA replication. While the exact ...
    https://medlineplus.gov/.../schimke-immuno-osseous-dysplasia - Genetics
  2. Aicardi-Goutières syndrome 
    ... when the cell is preparing for cell division, DNA repair, cell death (apoptosis), and other processes. The nuclease enzymes produced by genes with variants may not function properly, and some ... the accumulation of unneeded DNA and RNA in cells. The unneeded DNA and ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  3. Cockayne syndrome 
    ... DNA, cells malfunction and eventually die. The faulty DNA repair underlies photosensitivity in affected individuals, and researchers suspect ...
    https://medlineplus.gov/genetics/condition/cockayne-syndrome - Genetics
  4. Myopathy with deficiency of iron-sulfur cluster assembly enzyme 
    ... of many different proteins, including those needed for DNA repair and the regulation of iron levels. Proteins containing ...
    https://medlineplus.gov/...cy-of-iron-sulfur-cluster-assembly-enzyme - Genetics
  5. RAPADILINO syndrome 
    ... The loss of helicase function may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. These changes may result in the accumulation of DNA errors and cell death, although it is unclear ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
  6. Rothmund-Thomson syndrome 
    ... shortage of the RECQL4 protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  7. Ataxia with oculomotor apraxia 
    ... from that gene. This shortage prevents the efficient repair of DNA damage, which leads to the accumulation of broken ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  8. Histiocytosis-lymphadenopathy plus syndrome 
    ... nucleosides are likely used in the formation or repair of DNA found in these structures, known as mitochondrial DNA. ...
    https://medlineplus.gov/...stiocytosis-lymphadenopathy-plus-syndrome - Genetics
  9. Werner syndrome 
    ... perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of ...
    https://medlineplus.gov/genetics/condition/werner-syndrome - Genetics
  10. Cerebral folate transport deficiency 
    ... Additionally, folate is involved in the production and repair of DNA, regulation of gene activity (expression), and protein production. ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
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