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Results 71 - 80 of 281 for Abnormal affect
  1. WNK1 gene 
    ... of sensory neurons; however, the role that the abnormal WNK1/HSN2 protein plays in that loss is unclear. The loss of sensory neurons results in the signs and symptoms of HSAN2A.WNK1 gene mutations involved in HSAN2A do not appear to affect the L-WNK1 or KS-WNK1 isoforms. More ...
    https://medlineplus.gov/genetics/gene/wnk1 - Genetics
  2. ERCC3 gene 
    ... so other proteins can snip out (excise) the abnormal section and replace the damaged area with the correct DNA. At least one variant (also called a mutation) in the ERCC3 gene appears to be a rare cause of trichothiodystrophy. This condition affects many parts of the body. The hallmark of ...
    https://medlineplus.gov/genetics/gene/ercc3 - Genetics
  3. EVC2 gene 
    ... this signaling pathway may ultimately lead to the abnormal bone growth and heart defects seen ... a condition that affects the development of the teeth, nails, and bones. ...
    https://medlineplus.gov/genetics/gene/evc2 - Genetics
  4. FGA gene 
    ... mutations, the amyloid deposits are made up of abnormal fibrinogen Aα chain proteins, and ... Fib2 FIBA_HUMAN fibrinogen ...
    https://medlineplus.gov/genetics/gene/fga - Genetics
  5. RELN gene 
    ... of synapses, where cell-to-cell communication occurs. Abnormal communication between ... (LCH). This condition affects brain development, resulting in the brain having a ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  6. SOX10 gene 
    ... prevent the gene from making any protein. An abnormal or missing SOX10 protein ... A lack of melanocytes affects the coloring of skin, hair, and eyes and ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  7. NOD2 gene 
    ... and invade cells that line the intestine. An abnormal immune response to these bacteria ... and primarily affects the skin, joints, and eyes. These mutations change ...
    https://medlineplus.gov/genetics/gene/nod2 - Genetics
  8. DSC2 gene 
    ... with woolly hair type III. Studies suggest that abnormal cell signaling may ... mutations in this gene affect the skin and hair, while others do not. ...
    https://medlineplus.gov/genetics/gene/dsc2 - Genetics
  9. KCTD1 gene 
    ... The mutations associated with scalp-ear-nipple syndrome affect the BTB domain of the KCTD1 protein and impair its transcriptional repressor function. This impairment results in abnormal regulation of genes involved in ectodermal development. The ...
    https://medlineplus.gov/genetics/gene/kctd1 - Genetics
  10. SERPINC1 gene 
    ... clotting proteins, which causes the increased risk for abnormal blood clots ... the mutation affects binding to thrombin and other clotting factors (type ...
    https://medlineplus.gov/genetics/gene/serpinc1 - Genetics
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