Biomaterial Database

Therapeutic Window for Phosphodiesterase 6-Related Retinitis Pigmentosa. 2019

Nan-Kai Wang, and Vinit B Mahajan, and Stephen H Tsang

Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology and Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D005136	Eye Proteins	PROTEINS derived from TISSUES of the EYE.	Proteins, Eye
D005500	Follow-Up Studies	Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.	Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071700	Cone-Rod Dystrophies	Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.	Rod-Cone Dystrophy,Cone-Rod Degenerations,Cone-Rod Dystrophy,Cone-Rod Dystrophy 2,Cone-Rod Retinal Dystrophy,Retinal Cone-Rod Dystrophy,Rod Cone Dystrophies,Cone Rod Degenerations,Cone Rod Dystrophies,Cone Rod Dystrophy,Cone Rod Dystrophy 2,Cone Rod Retinal Dystrophy,Cone-Rod Degeneration,Cone-Rod Dystrophies, Retinal,Cone-Rod Dystrophy, Retinal,Cone-Rod Retinal Dystrophies,Retinal Cone Rod Dystrophy,Retinal Cone-Rod Dystrophies,Retinal Dystrophies, Cone-Rod,Retinal Dystrophy, Cone-Rod,Rod Cone Dystrophy,Rod-Cone Dystrophies
D012174	Retinitis Pigmentosa	Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.	Pigmentary Retinopathy,Tapetoretinal Degeneration,Pigmentary Retinopathies,Retinopathies, Pigmentary,Retinopathy, Pigmentary,Tapetoretinal Degenerations
D054707	Cyclic Nucleotide Phosphodiesterases, Type 6	A cyclic nucleotide phosphodiesterase subfamily that is highly specific for CYCLIC GMP. It is found predominantly in the outer segment PHOTORECEPTOR CELLS of the RETINA. It is comprised of two catalytic subunits, referred to as alpha and beta, that form a dimer. In addition two regulatory subunits, referred to as gamma and delta, modulate the activity and localization of the enzyme.	Cyclic Nucleotide Phosphodiesterases, Type 6, alpha Subunit,Cyclic Nucleotide Phosphodiesterases, Type 6, beta Subunit,Cyclic Nucleotide Phosphodiesterases, Type 6, delta Subunit,Cyclic Nucleotide Phosphodiesterases, Type 6, gamma Subunit,PDE6 Phosphodiesterases,PDE6, alpha Subunit,PDE6, beta Subunit,PDE6, delta Subunit,Phosphodiesterase 6,Phosphodiesterase Type 6,Retinal Phosphodiesterase 6,Retinal Phosphodiesterase, alpha Subunit,Retinal Phosphodiesterase, beta Subunit,Retinal Phosphodiesterase, delta Subunit,Rod cGMP Phosphodiesterase, beta Subunit,alpha Subunit, PDE6,beta Subunit, PDE6,cGMP Phosphodiesterase delta Subunit,cGMP-PDE gamma Subunit,delta Subunit, PDE6,gamma Subunit, cGMP Phosphodiesterase,PDE6 alpha Subunit,PDE6 beta Subunit,PDE6 delta Subunit,Phosphodiesterase 6, Retinal,Phosphodiesterases, PDE6,alpha Subunit PDE6,beta Subunit PDE6,cGMP PDE gamma Subunit,delta Subunit PDE6,gamma Subunit, cGMP-PDE