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Results 1 - 10 of 23 for Abnormality of DNA repair
  1. Trichothiodystrophy 
    ... Kraemer KH, DiGiovanna JJ. Structural and molecular hair abnormalities in ... DNA repair and transcription gene disorder on human fetal development. ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  2. UV-sensitive syndrome 
    ... proteins is not functioning normally, skin cells cannot repair DNA damage caused by UV rays, and transcription of damaged genes is blocked. However, it is unclear exactly how abnormalities in these proteins cause the signs and symptoms ...
    https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome - Genetics
  3. Fanconi anemia 
    ... uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide ... abnormalities characteristic of Fanconi anemia. When the buildup of ...
    https://medlineplus.gov/genetics/condition/fanconi-anemia - Genetics
  4. Warsaw breakage syndrome 
    ... DNA strands to help with DNA replication and repair. A lack of functional ChlR1 impairs cell division and leads to ... This condition ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  5. Xeroderma pigmentosum 
    ... related to xeroderma pigmentosum are part of a DNA-repair process known as nucleotide excision repair (NER). The ... Sarasin A, Stefanini M, Lehmann AR. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne ...
    https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum - Genetics
  6. 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
  7. Nijmegen breakage syndrome 
    ... defects with misrejoining in Nijmegen breakage syndrome cells. DNA Repair (Amst). 2008 Jan 1;7(1):108-18. ...
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  8. Sézary syndrome 
    ... Candidate driver genes involved in genome maintenance and DNA repair in Sezary syndrome. Blood. 2016 Jun 30;127( ...
    https://medlineplus.gov/genetics/condition/sezary-syndrome - Genetics
  9. Dyskeratosis congenita 
    ... complex helps protect telomeres from the cell's DNA repair process. Without the protection of shelterin, the repair mechanism would sense the chromosome ends as abnormal breaks in the DNA sequence and either attempt to join the ends ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  10. Triple A syndrome 
    ... of molecules across this membrane. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
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