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Results 1 - 10 of 13 for "Aicardi-Goutieres" syndrome 1
  1. Aicardi-Goutières syndrome 
    ... Registry: Aicardi-Goutieres syndrome 7 Genetic Testing Registry: Aicardi-Goutieres syndrome 1 Genetic Testing Registry: Aicardi-Goutieres syndrome 2 Genetic ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. RNU7-1 gene 
    ... replication). Variants (also called mutations) in the RNU7-1 gene have been found to cause Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction ( ...
    https://medlineplus.gov/genetics/gene/rnu7-1 - Genetics
  3. TREX1 gene 
    ... the eye (the retina). As in people with Aicardi-Goutières syndrome, the absence or impaired function of the three prime repair exonuclease 1 enzyme may cause immune system dysfunction that damages ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  4. RNASEH2A gene 
    ... Shaban NM, Hollis T. RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. J Mol Med (Berl). 2009 Jan;87(1):25-30. doi: 10.1007/s00109-008-0422- ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
  5. IFIH1 gene 
    ... Shirai T, Ohara O, Fujita T, Heike T. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014. ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  6. ADAR gene 
    ... this disorder. ADAR1 adenosine deaminase acting on RNA 1-A DRADA DSH DSRAD dsRNA adenosine ... Crow YJ. Aicardi-Goutieres Syndrome. 2005 Jun 29 [updated 2016 Nov 22]. In: ...
    https://medlineplus.gov/genetics/gene/adar - Genetics
  7. LSM11 gene 
    ... RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutieres Syndrome with Severe End-Organ Involvement. J Clin Immunol. ...
    https://medlineplus.gov/genetics/gene/lsm11 - Genetics
  8. SAMHD1 gene 
    ... that leads to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition DCIP dendritic cell-derived IFNG-induced protein monocyte protein 5 MOP-5 SAM domain and HD domain 1 SAM domain and HD domain-containing protein 1 ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  9. Leukodystrophies (National Library of Medicine)  
    What are leukodystrophies? Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your ...
    https://medlineplus.gov/leukodystrophies.html - Health Topics
  10. RNAse T2-deficient leukoencephalopathy 
    ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
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