A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyCharacterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus.The use of SD-OCT in the differential diagnosis of dots, spots and other white retinal lesions.The retinal pigment epithelium in health and diseaseexomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.Retinal degeneration in animal models with a defective visual cycle.Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatusNew syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.Delayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: a role of RDH11 in visual processes in vivo.Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.The role of 11-cis-retinyl esters in vertebrate cone vision.Aberrant metabolites in mouse models of congenital blinding diseases: formation and storage of retinyl esters.Key enzymes of the retinoid (visual) cycle in vertebrate retinaImprovement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal.Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.HEK293S cells have functional retinoid processing machineryTwo siblings with late-onset cone-rod dystrophy and no visible macular degenerationGenetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.Defective RDH5 does not oxidise 11cROL to 11cRAL and causes RPA
P2860
Q26770321-192E11D3-8A8E-45DF-BB84-B444FB5F96B4Q28367330-1FD02E57-07E8-4E2B-BA7E-7DEE9172C7D0Q33702115-44DDACD9-1330-486E-BC5D-3BE4842E9965Q33998365-A00B7A40-778B-4C82-8496-01F8FF42E4D1Q34097381-F7076449-D92B-4638-99D1-7E0A9CC4775EQ34149638-9A35ADB4-3E6D-4556-96A6-F5272BA5994AQ34173730-A741AF64-3030-4CE1-B40A-E566C9D56ED5Q34307307-4289BDFB-3443-480F-A8E7-326725AA238BQ34313759-E9358628-D5A4-438C-BE76-152AED65B493Q34469235-5657045E-55FE-43F9-89FC-2189727C5FB6Q34611207-4A8CC6C8-BC87-45D6-92B2-9639E6B6D35BQ34847790-E6274444-70FA-45A6-8E12-F11A1E324F7BQ35017289-7939804D-077C-4BD8-B740-E6AF4221274AQ35172750-282C1A6A-EFC0-4F9D-8527-0DAB56C8FD97Q35575591-6A2420C8-0671-4379-B660-0EE83615B93AQ36051712-F10562C5-1F2E-472C-BC0B-3F6C38E3C4C4Q36103162-D75B0E3B-8385-4D13-B81D-484401AD6310Q36445302-4C1F4ACD-F5CE-4370-B9A2-DD3A786B300FQ37164602-4F102E89-24F4-4DB4-BF6D-C5E3399FAFF3Q41992625-7F00D360-21AA-4614-9DCC-526F42C3D81CQ50288899-14FFE89A-0D80-4975-B1F7-3570E26C8696
P2860
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene
description
2000 nî lūn-bûn
@nan
2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
A high association with cone d ...... by mutations of the RDH5 gene
@ast
A high association with cone d ...... by mutations of the RDH5 gene
@en
A high association with cone d ...... by mutations of the RDH5 gene
@nl
type
label
A high association with cone d ...... by mutations of the RDH5 gene
@ast
A high association with cone d ...... by mutations of the RDH5 gene
@en
A high association with cone d ...... by mutations of the RDH5 gene
@nl
prefLabel
A high association with cone d ...... by mutations of the RDH5 gene
@ast
A high association with cone d ...... by mutations of the RDH5 gene
@en
A high association with cone d ...... by mutations of the RDH5 gene
@nl
P2093
P1476
A high association with cone d ...... by mutations of the RDH5 gene
@en
P2093
P304
P407
P577
2000-11-01T00:00:00Z