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245 results
  1. Cartilage (Bovine and Shark) (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65762
    ... an increase in the transcription of the tPA gene.[ 40 ] This transcriptional activation is associated with activation of c-Jun N-terminal kinase (JNK) and nuclear factor-kappa B (NF-kappa B) signaling pathways to ...
  2. Complement factor I deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/complement-factor-i-deficiency
    ... of functional complement factor I protein allows uncontrolled activation of the complement ... Inheritance This condition is inherited ...
  3. Clopidogrel resistance: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/clopidogrel-resistance
    ... common variations (polymorphisms) in this gene have been associated with clopidogrel resistance. CYP2C19 gene polymorphisms account for most of the variation in clopidogrel activation due to genetic factors. Polymorphisms in other genes likely have smaller effects ...
  4. Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1367
    ... 50%-75%) [ Xiao et al 2014 ]. C3G is associated with alternative pathway complement activation usually caused by C3 nephritic factors, IgG autoantibodies that stabilize the alternative C3 convertase (C3bBb), or by pathogenic variants in complement genes. C3Nefs are found in 60%-70% of individuals ...
  5. Anhidrotic ectodermal dysplasia with immune deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/...todermal-dysplasia-with-immune-deficiency
    ... production of proteins with altered function, which reduces activation of nuclear ... ectodermal dysplasia with immune deficiency IKBKG ...
  6. Factor XIII deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/factor-xiii-deficiency
    ... XIII deficiency can also be caused by abnormal activation of the immune system, which ... F13A1 F13B Inheritance ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... XPC complex subunit, DNA damage recognition and repair ... YY1 associated protein 1</title><url >https://medlineplus.gov/genetics/ ...
  8. Hemophilia B - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1495
    ... factor Xa activation [ Kristensen et al 2016 ]. This activation is a critical ... are associated with dysfunctional protein (see Table A , Locus-Specific ...
  9. CFI gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cfi
    ... in an abnormal or nonfunctional version of complement factor I. The defective ... also been associated with age-related macular degeneration (AMD). AMD is ...
  10. CARD14 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/card14
    ... rare variants of the CARD14 gene have been associated with an increased risk ... risk factor for this condition. Additional factors in combination with ...
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