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Disease on EC 1.14.14.79 - docosahexaenoic acid omega-hydroxylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Blindness
New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.
Choroidal Neovascularization
Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization.
Eye Diseases
CYP4V2 in Bietti's Crystalline Dystrophy: Ocular Localization, Metabolism of ?-3 Polyunsaturated Fatty Acids and Functional Deficit of the p.H331P Variant.
Generation and characterization of a murine model of Bietti crystalline dystrophy.
Glaucoma
Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition.
Leber Congenital Amaurosis
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.
Lymphatic Metastasis
Cytochrome p450 profile of colorectal cancer: identification of markers of prognosis.
Macular Degeneration
Multimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy.
Neoplasm Metastasis
Cytochrome p450 profile of colorectal cancer: identification of markers of prognosis.
Neoplasms
Cytochrome p450 profile of colorectal cancer: identification of markers of prognosis.
Profiling the expression of cytochrome P450 in breast cancer.
Retinal Degeneration
Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy.
Retinal Diseases
New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
Retinal Dystrophies
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.
New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
Retinitis Pigmentosa
CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS.
Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations.
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
Multimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy.
Skin Diseases
Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications.
Venous Thromboembolism
Association of the CYP4V2 polymorphism rs13146272 with venous thromboembolism in a Chinese population.
Venous Thrombosis
Association of F11 polymorphism rs2289252 with deep vein thrombosis and related phenotypes in population of Latvia.