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.

Authors

Natalia Strunnikova¹, Wadih M Zein, Chris Silvin, Ian M MacDonald

Affiliation

¹ Ophthalmic Genetics and Visual Function Branch, National Eye Inst/NIH, Bethesda, MD 20892, USA.

PMID: 22183356
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