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Results 71 - 80 of 148 for Down syndrome
  1. WWP1 gene 
    The WWP1 gene provides instructions for making a protein that is found is many tissues. This protein has activity known as E3 ubiquitin ligase. Proteins ...
    https://medlineplus.gov/genetics/gene/wwp1 - Genetics
  2. CTC1 gene 
    The CTC1 gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. ...
    https://medlineplus.gov/genetics/gene/ctc1 - Genetics
  3. CHD3 gene 
    ... have been found to cause Snijders Blok-Campeau syndrome. This condition is ... in breaking down ATP to provide the energy for chromatin remodeling. ...
    https://medlineplus.gov/genetics/gene/chd3 - Genetics
  4. BAP1 gene 
    ... of cancer are linked to BAP1 tumor predisposition syndrome.Affected ... down prematurely. Other germline mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/bap1 - Genetics
  5. CISD2 gene 
    ... injury.The CISD2 gene mutation that causes Wolfram syndrome replaces the ... eventually break down. Since the mitochondria provide energy to cells, the ...
    https://medlineplus.gov/genetics/gene/cisd2 - Genetics
  6. LTBP4 gene 
    ... laxa type 1C (ARCL1C) or Urban-Rifkin-Davis syndrome, which is characterized by ... blueprint is broken down in the cell before LTBP4 protein is made. ...
    https://medlineplus.gov/genetics/gene/ltbp4 - Genetics
  7. OBSL1 gene 
    The OBSL1 gene provides instructions for making a protein that is thought to help maintain normal levels of another protein called cullin-7, which is produced ...
    https://medlineplus.gov/genetics/gene/obsl1 - Genetics
  8. CDKL5 gene 
    ... article on PubMed Central Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi ... Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda ...
    https://medlineplus.gov/genetics/gene/cdkl5 - Genetics
  9. LYST gene 
    The LYST gene (also known as CHS1) provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this ...
    https://medlineplus.gov/genetics/gene/lyst - Genetics
  10. MMP2 gene 
    ... normal process in which old bone is broken down and new bone is created to replace it. ... gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet. 2001 Jul;28(3):261-5. ...
    https://medlineplus.gov/genetics/gene/mmp2 - Genetics
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