title: Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia.
authors.affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Inst/NIH, Bethesda, MD 20892, USA.
authors.forename: Natalia
authors.initials: N
authors.lastname: Strunnikova
authors.forename: Wadih M
authors.initials: WM
authors.lastname: Zein
authors.forename: Chris
authors.initials: C
authors.lastname: Silvin
authors.forename: Ian M
authors.initials: IM
authors.lastname: MacDonald
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D018932:Chemokine CCL2 / Q000097:blood; D015794:Choroideremia / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D005136:Eye Proteins / Q000097:blood; D005192:Family Health; D006801:Humans; D008297:Male; D009414:Nerve Growth Factors / Q000097:blood; D010587:Phagocytosis / Q000502:physiology; D010641:Phenotype; D011237:Predictive Value of Tests; D021381:Protein Transport / Q000502:physiology*; D012164:Retinal Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D015843:Serpins / Q000097:blood; D012720:Severity of Illness Index; D035781:Siblings; D042461:Vascular Endothelial Growth Factor A / Q000097:blood; D000099174:Pigment Epithelium-Derived Factor
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D015415:Biomarkers; D018932:Chemokine CCL2; D005136:Eye Proteins; D009414:Nerve Growth Factors; D015843:Serpins; D042461:Vascular Endothelial Growth Factor A; D000099174:Pigment Epithelium-Derived Factor; C111835:CCL2 protein, human; C081787:CHM protein, human; C467484:VEGFA protein, human