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Results 1 - 10 of 1,446 for Or
  1. ... In the bloodstream, this protein carries hormones made or used by the thyroid gland, which is a ... thyroxine-binding globulin. These mutations alter the structure or processing of the protein, leading to the partial ...
  2. ... delete genetic material in the KMT2D gene sequence, or result in a premature stop signal that leads ... of the gene in tumor cells, altered stability or processing of the enzyme, or other mechanisms. Excess ...
  3. ... for making a protein called tumor protein p53 (or p53). This protein acts as a tumor suppressor, ... cells from growing and dividing (proliferating) too fast or in an uncontrolled way.The p53 protein is ...
  4. ... for making a protein called the dopamine transporter or DAT. This protein is embedded in the membrane ... begin in infancy but can appear in childhood or later. Some of the mutations change single protein ...
  5. ... making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a ... and pyrimidines may be manufactured from smaller molecules, or they can be recycled from the breakdown of ...
  6. ... another and form clumps called neuroserpin inclusion bodies or Collins bodies. These clumps disrupt the cells' normal ... in people with FENIB.SERPINI1 mutations also reduce or eliminate the ability of neuroserpin to inhibit tPA ...
  7. ... instructions for making a protein called epithelial cadherin or E-cadherin. This protein is found within the ... prevents cells from growing and dividing too rapidly or in an uncontrolled way. Inherited mutations in the ...
  8. ... illegal opioid drugs such as heroin.When endogenous or exogenous opioids bind to the μ opioid receptor, ... The best-studied OPRM1 gene polymorphism, called A118G or rs1799971, changes a protein building block (amino acid) ...
  9. ... sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). Na+/H+ exchangers are found in the membranes that surround cells or compartments within cells. These proteins act as channels ...
  10. ... prevents cells from growing and dividing too quickly or in an uncontrolled way. The TMEM127 protein controls ... tumor associated with the nervous system called paraganglioma or pheochromocytoma (a type of paraganglioma). TMEM127 gene mutations ...
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