Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 51 - 60 of 148 for Down syndrome
  1. NOD2 gene 
    ... Thomas G, Hugot JP. CARD15 mutations in Blau syndrome. Nat Genet. 2001 Sep;29(1):19-20. doi: 10.1038/ng720. Citation on PubMed Sidiq T, Yoshihama S, Downs I, Kobayashi KS. Nod2: A Critical Regulator of ...
    https://medlineplus.gov/genetics/gene/nod2 - Genetics
  2. MAP2K1 gene 
    ... normal process in which old bone is broken down and new bone is created to replace ... Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This ...
    https://medlineplus.gov/genetics/gene/map2k1 - Genetics
  3. FKRP gene 
    ... Many FKRP gene mutations involved in Walker-Warburg syndrome change single protein building blocks (amino acids) in FKRP. The altered protein cannot reach the Golgi apparatus and is instead broken down, reducing the amount of functional FKRP.A shortage ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  4. TTR gene 
    ... form tetramers. As a result, the tetramers break down into individual transthyretin ... More About This Health Condition In some older ...
    https://medlineplus.gov/genetics/gene/ttr - Genetics
  5. DICER1 gene 
    ... by which protein is made. Sometimes, miRNAs break down the mRNA, which also blocks ... the DICER1 gene cause DICER1 syndrome. People with this condition have an increased risk ...
    https://medlineplus.gov/genetics/gene/dicer1 - Genetics
  6. EFNB1 gene 
    ... B1 protein. The shortened molecules are quickly broken down before protein can be ... EFL3 EFNB1 gene ...
    https://medlineplus.gov/genetics/gene/efnb1 - Genetics
  7. UBE3A gene 
    The UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. Ubiquitin protein ligases are enzymes that target other proteins ...
    https://medlineplus.gov/genetics/gene/ube3a - Genetics
  8. SKIC2 gene 
    ... the cytosolic exosome helps to recognize and break down excess or abnormal messenger RNA ... to cause trichohepatoenteric syndrome, a rare condition that affects many parts of ...
    https://medlineplus.gov/genetics/gene/skic2 - Genetics
  9. SKIC3 gene 
    ... the cytosolic exosome helps to recognize and break down excess or abnormal messenger RNA ... to cause trichohepatoenteric syndrome, a rare condition that affects many parts of ...
    https://medlineplus.gov/genetics/gene/skic3 - Genetics
  10. PSMB8 gene 
    The PSMB8 gene provides instructions for making one part (subunit) of cell structures called immunoproteasomes. Immunoproteasomes are specialized versions ...
    https://medlineplus.gov/genetics/gene/psmb8 -
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next