A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
about
Complement modulation in the retinal pigment epithelium rescues photoreceptor degeneration in a mouse model of Stargardt disease.Gene expression profiling of transporters in the solute carrier and ATP-binding cassette superfamilies in human eye substructures.Retinal degeneration in animal models with a defective visual cycle.Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genesCommon synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degenerationRestoration of mesenchymal retinal pigmented epithelial cells by TGFβ pathway inhibitors: implications for age-related macular degenerationQuantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.Reduced macular function in ABCA4 carriers.A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.All-trans-retinal sensitizes human RPE cells to alternative complement pathway-induced cell death.ABCA4 gene screening by next-generation sequencing in a British cohortNovel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.Personalized genomic disease risk of volunteers.Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence StudyWhole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.Bisretinoid-mediated complement activation on retinal pigment epithelial cells is dependent on complement factor H haplotype.How genetic studies have advanced our understanding of age-related macular degeneration and their impact on patient care: a review.Cell and gene therapy.Highly penetrant alleles in age-related macular degeneration.Fundus autofluorescence imaging in dry AMD: 2014 Jules Gonin lecture of the Retina Research Foundation.Photo-damage, photo-protection and age-related macular degeneration.Prognostic implications of imaging in atrophic macular degeneration and its use in clinical practice and clinical trial design.Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Risk factors and biomarkers of age-related macular degeneration.In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.The impact of the human genome project on complex diseaseGenetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
P2860
Q33569372-F1B7F42C-9233-403A-85E0-F3795A06AC16Q33654708-030022FC-1847-4943-834D-C78CAD41B187Q34149638-63BB268D-C663-4388-BA5C-1BCA42613148Q34675175-72800A1F-7ECA-4DC8-814B-AF18261315F9Q34832437-8AB063A9-8488-4168-9E46-74A6BC1D2330Q35155368-0DFEB4C1-4DA2-4F73-BBC0-170BE01C2461Q35593465-5A3F2917-B29B-482E-A381-9DB2D975A483Q35819298-0DCA3F1A-477E-41D4-9638-D912F8CAC665Q35836034-AD30B823-75B2-42D5-9434-BCFE4386D42DQ35862219-B60C6E2B-93BF-4181-A5DE-A5863FC4E76DQ36556369-63FD4E14-F0E5-4575-9541-1B13986EF3DEQ36779356-F9C81AE2-02FE-44E6-9569-48434BCA3ACDQ37230434-01445782-897E-4315-9FE3-A04B7CF4359CQ37235131-0B654D9B-F6BF-44AF-9C16-87C75872912AQ37240475-78042DB9-091F-4096-B894-A41A7796EF8BQ37415582-14666562-1ECE-477B-B41B-F1CCF82AECA3Q37525938-0A69F6AB-50B6-4735-BA94-EED4FE9BFA2FQ37610127-356A2417-8531-4452-8852-22F123707F4FQ37691648-ECAB9F71-76F5-48CB-A97C-83B861A50016Q38151224-7B365260-F5F3-42EB-A968-D6E3BA82B77AQ38204644-6E3B2B0C-D557-4DA4-A432-3109A1C999B9Q38265848-5A05C09A-E9BD-4261-ACA1-33E9F8C433DFQ38269457-96002DCC-5758-4CB0-9FA2-4FA299A052CCQ38551646-55657ABD-3E3C-4DCD-8288-11AA4A52A4D1Q38607697-68083C81-E852-4F9B-A373-F4E507DCFB80Q38818096-8B4130DC-575F-434E-BFDB-4994AF2759DAQ38828895-A00FF470-1514-4633-9622-7AD61BE710CAQ39043581-F4AAE978-B6D6-418E-B8C4-AB6A92236A52Q39158595-09DAEA4B-A8D2-4A79-9E2B-5E65208FFB10Q49265040-0D99358A-210A-4FFF-9447-68B534117FD2Q51366977-08F0E1D0-DF2F-4469-A422-E5B420534E76
P2860
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
A subgroup of age-related macu ...... ce variants in the ABCA4 gene.
@en
A subgroup of age-related macu ...... ce variants in the ABCA4 gene.
@nl
type
label
A subgroup of age-related macu ...... ce variants in the ABCA4 gene.
@en
A subgroup of age-related macu ...... ce variants in the ABCA4 gene.
@nl
prefLabel
A subgroup of age-related macu ...... ce variants in the ABCA4 gene.
@en
A subgroup of age-related macu ...... ce variants in the ABCA4 gene.
@nl
P2093
P356
P1476
A subgroup of age-related macu ...... ce variants in the ABCA4 gene.
@en
P2093
Agnes B Renner
Almut Bindewald-Wittich
Andreas Mößner
Bernhard H F Weber
Britta S Fiebig
Christine Adrion
Claudia N Keilhauer
Daniel Pauleikhoff
Friederike Mackensen
Hendrik P N Scholl
P304
P356
10.1167/IOVS.11-8785
P407
P577
2012-04-30T00:00:00Z