The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
about
Reciprocal regulation of expression of the human adenosine 5'-triphosphate binding cassette, sub-family A, transporter 2 (ABCA2) promoter by the early growth response-1 (EGR-1) and Sp-family transcription factorsThe molecular genetics of familial intrahepatic cholestasisExome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt diseaseRole of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases.Quantitative fundus autofluorescence in healthy eyes.Immunochemical recognition of A2E, a pigment in the lipofuscin of retinal pigment epithelial cells.Phospholipid meets all-trans-retinal: the making of RPE bisretinoidsGenetic susceptibility to age related macular degeneration.Structural characterization of bisretinoid A2E photocleavage products and implications for age-related macular degenerationEffects of organic solvents on two retinal pigment epithelial lipofuscin fluorophores, A2E and all-trans-retinal dimerEnzymatic degradation of A2E, a retinal pigment epithelial lipofuscin bisretinoid.The retinal pigment epithelium in health and diseaseEndoplasmic reticulum stress and the unfolded protein responses in retinal degeneration.Simple and complex ABCR: genetic predisposition to retinal disease.The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.Interpretations of fundus autofluorescence from studies of the bisretinoids of the retinaFurther evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium.Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degenerationExome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesPhoto-products of retinal pigment epithelial bisretinoids react with cellular thiolsCiliary ectosomes: transmissions from the cell's antenna.Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.The bisretinoids of retinal pigment epitheliumThe putative role of lutein and zeaxanthin as protective agents against age-related macular degeneration: promise of molecular genetics for guiding mechanistic and translational research in the field.Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.Clan genomics and the complex architecture of human disease.ABCA4 disease progression and a proposed strategy for gene therapyABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.Structures and biogenetic analysis of lipofuscin bis-retinoids.Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 geneThe role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence StudyAssociation between genotype and phenotype in families with mutations in the ABCA4 gene.Lessons learned from additional research analyses of unsolved clinical exome cases.Risk factors and biomarkers of age-related macular degeneration.Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.Biosynthetic studies of A2E, a major fluorophore of retinal pigment epithelial lipofuscin.ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.Characterization of peroxy-A2E and furan-A2E photooxidation products and detection in human and mouse retinal pigment epithelial cell lipofuscin.Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.
P2860
Q24293615-34DFADA7-28ED-47D9-94E5-4AD7D526EAA6Q24670001-E605F029-5225-47A2-9011-22A5AAFE6A70Q28540924-5DFD00AF-D601-4B2C-8BE0-9CD432E645CCQ30373731-C6CD6E4D-822C-49B8-B590-C6AF8F1EDCA9Q30543909-DFF5F22F-001B-4511-AE42-7B829EDA3448Q33297465-BA9D9999-AE6C-47A8-BE89-FB16CB5B99A2Q33577803-9253EC14-0C51-40AC-B0FA-7733DBCFAC0BQ33831396-64327FEF-B8F2-44D9-A3A1-D61462C4FFD3Q33842052-D46406E7-8982-4FCF-9C16-BB8DF3A692D5Q33899116-ED90856E-F4FD-42A0-B814-2BD16ADE0EB0Q33956569-F753FBD9-7198-4487-873E-CFB17A0C9FC8Q33998365-849CBC8A-1D05-4F46-B89E-8DB980FFB766Q34005691-5B167145-4F3B-453E-A8E1-19C88490B04AQ34022106-C24D9103-E15E-46F1-8EC1-974C80D351C0Q34092691-AE7D1A6C-437C-43BC-8A1A-A720CDB03E6FQ34135516-EAC8C49E-B810-4314-ACF2-44496FF66DAFQ34142148-8AD93E96-828F-4F66-8BB5-2938F7DD5014Q34157723-B86321E8-7739-43C5-87FE-FC9DE0E768D7Q34784703-037C0BE0-350D-4C4A-AD53-6DB5CE905B0CQ35108814-19C5036E-1F07-47FE-8673-638D4869AFE7Q35537057-0067E738-8544-45B5-A5FF-48829F31F013Q35568316-5A7589EA-A978-42A5-908B-00D4532CC812Q35785390-8C30F663-F2D2-43A2-B6A4-8244AA1CAD56Q36317120-18E8ADB4-DC73-4613-86C5-FEB93BC1FA81Q36762773-B135B60D-1D0F-4FCD-A7B6-19FA2CC46AFDQ36851578-B83DD9BC-485A-43D8-B24B-E0A7448677B5Q37092442-4F5A39BD-7121-4840-9BF9-B4941AC48840Q37139294-F5FB68E9-F21F-4149-8742-CDC328AFD5A6Q37172298-D2CFC001-BE48-4908-AF5F-3CF08B197C1EQ37317216-798422CF-FABA-4706-9149-AE26F2310D69Q37351985-6DFBC46F-E876-4438-93B4-F95957E2171CQ37415582-3C9C017A-338E-48C2-85FD-FEB98107A52FQ37482138-F3661327-85CB-4D7C-8349-32EE68B834F7Q37715741-CD3448E2-F65B-4CB5-BF96-4068E149A70EQ38828895-6565B28C-B44B-4966-8639-7C1B96F34FCAQ39807416-5FBC7396-8288-4967-9624-CEE619AE5F41Q43833680-C7676CE4-436A-4F86-AFF8-607B8E5F0066Q46652702-4F63C832-7B05-4E55-8B5F-CF0AAF0B4B79Q46722184-F2738120-331E-43F9-912B-377FC81701C8Q47329117-BC71C3D0-D62E-496D-AF06-7953D236ED1D
P2860
The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
The rod photoreceptor ATP-bind ...... m monogenic to multifactorial.
@ast
The rod photoreceptor ATP-bind ...... m monogenic to multifactorial.
@en
type
label
The rod photoreceptor ATP-bind ...... m monogenic to multifactorial.
@ast
The rod photoreceptor ATP-bind ...... m monogenic to multifactorial.
@en
prefLabel
The rod photoreceptor ATP-bind ...... m monogenic to multifactorial.
@ast
The rod photoreceptor ATP-bind ...... m monogenic to multifactorial.
@en
P2093
P1433
P1476
The rod photoreceptor ATP-bind ...... om monogenic to multifactorial
@en
P2093
P304
P356
10.1016/S0042-6989(99)00037-1
P577
1999-07-01T00:00:00Z