Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia

Adv Exp Med Biol. 2012:723:381-7. doi: 10.1007/978-1-4614-0631-0_49.
No abstract available

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adolescent
  • Biomarkers / blood
  • Chemokine CCL2 / blood
  • Choroideremia / genetics
  • Choroideremia / metabolism*
  • Choroideremia / pathology*
  • Eye Proteins / blood
  • Family Health
  • Humans
  • Male
  • Nerve Growth Factors / blood
  • Phagocytosis / physiology
  • Phenotype
  • Predictive Value of Tests
  • Protein Transport / physiology*
  • Retinal Diseases / genetics
  • Retinal Diseases / metabolism*
  • Retinal Diseases / pathology*
  • Serpins / blood
  • Severity of Illness Index
  • Siblings
  • Vascular Endothelial Growth Factor A / blood

Substances

  • Adaptor Proteins, Signal Transducing
  • Biomarkers
  • CCL2 protein, human
  • CHM protein, human
  • Chemokine CCL2
  • Eye Proteins
  • Nerve Growth Factors
  • Serpins
  • VEGFA protein, human
  • Vascular Endothelial Growth Factor A
  • pigment epithelium-derived factor