OCT angiography and evaluation of the choroid and choroidal vascular disorders
The recent introduction of optical coherence tomography angiography (OCTA) has
remarkably expanded our knowledge of the choroid through in vivo investigation of the …
remarkably expanded our knowledge of the choroid through in vivo investigation of the …
Human cytochromes P450 in health and disease
There are 18 mammalian cytochrome P450 (CYP) families, which encode 57 genes in the
human genome. CYP2, CYP3 and CYP4 families contain far more genes than the other 15 …
human genome. CYP2, CYP3 and CYP4 families contain far more genes than the other 15 …
Inherited retinal diseases: therapeutics, clinical trials and end points—a review
M Georgiou, K Fujinami… - Clinical & Experimental …, 2021 - Wiley Online Library
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …
Retinitis pigmentosa
C Hamel - Orphanet journal of rare diseases, 2006 - Springer
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of
photoreceptors and characterized by retinal pigment deposits visible on fundus examination …
photoreceptors and characterized by retinal pigment deposits visible on fundus examination …
[HTML][HTML] Dynamic lipid turnover in photoreceptors and retinal pigment epithelium throughout life
The retinal pigment epithelium-photoreceptor interphase is renewed each day in a stunning
display of cellular interdependence. While photoreceptors use photosensitive pigments to …
display of cellular interdependence. While photoreceptors use photosensitive pigments to …
Human cytochrome P450 enzymes
FP Guengerich - Cytochrome P450: structure, mechanism, and …, 2015 - Springer
Abstract The cytochrome P450 (P450) enzymes first attracted interest because of their
relevance to the metabolism of drugs, steroids, and carcinogens. Collectively, the 57 human …
relevance to the metabolism of drugs, steroids, and carcinogens. Collectively, the 57 human …
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …
population and children. The scope of this review is to familiarise clinicians and scientists …
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant
social and professional consequences. Molecular genetic information is invaluable for an …
social and professional consequences. Molecular genetic information is invaluable for an …
Gene variants associated with deep vein thrombosis
ID Bezemer, LA Bare, CJM Doggen, AR Arellano… - Jama, 2008 - jamanetwork.com
Context The genetic causes of deep vein thrombosis (DVT) are not fully understood.
Objective To identify single-nucleotide polymorphisms (SNPs) associated with DVT. Design …
Objective To identify single-nucleotide polymorphisms (SNPs) associated with DVT. Design …
Cytochrome P450 omega hydroxylase (CYP4) function in fatty acid metabolism and metabolic diseases
JP Hardwick - Biochemical pharmacology, 2008 - Elsevier
The cytochrome P450 gene 4 family (CYP4) consists of a group of over 63 members that ω-
hydroxylate the terminal carbon of fatty acids. In mammals, six subfamilies have been …
hydroxylate the terminal carbon of fatty acids. In mammals, six subfamilies have been …