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Translocation Down syndrome
- ... in an AFF4 protein that is not broken down when it is no longer needed, so more ... rearrangements (translocations) that are found in certain blood cancers called ...
- ... contains the UBE3A gene can also cause Angelman syndrome. These chromosomal changes include rearrangements (translocations) of genetic material or a defect in the ...
- ... cleared from the body. For example, the OATP1B3 protein transports bilirubin, which is a yellowish substance that is produced when red blood cells are broken down. In the liver, bilirubin is dissolved in a ...
- ... cleared from the body. For example, the OATP1B1 protein transports bilirubin, which is a yellowish substance that is produced when red blood cells are broken down. In the liver, bilirubin is dissolved in a ...
- ... the NOTCH1 gene mutations involved in Adams-Oliver syndrome lead to production of an abnormally short protein that is likely broken down quickly, causing a shortage of Notch1. Other mutations ...
- ... foreign invaders such as bacteria and viruses. The protein transports molecules from these ... have been found to cause Vici syndrome, a severe condition that primarily affects the brain, ...
- ... about Systemic mastocytosis More About This Health Condition ... and myelodysplastic syndromes (MDS). Depending on the type of mutation, these ...
- ... form tetramers. As a result, the tetramers break down into individual transthyretin ... More About This Health Condition In some older ...
- ... down excess nitrogen, made when protein is broken down by the body, to make ... protein transports ornithine across the inner membrane of mitochondria to ...
- ... Momburg F, Hammerling GJ. Selective and ATP-dependent translocation of peptides by the MHC-encoded transporter. Science. ... Parcej D, Tampe R. ABC proteins in antigen translocation and viral inhibition. Nat Chem Biol. 2010 Aug; ...