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ProteomicsComplement factor B is critical for sub-RPE deposit formation in the Efemp1 R345W mutant mouse model with features of age-related macular degeneration
This dataset represent supplemental data for publication submitted to Human Molecular Genetics in 2022. Briefly, Efemp1 R345W is a protein misfolding-prone mutation in humans causing Doyne honeycomb retinal dystrophy/Mallatia Leventinese (DHRD/ML), a disease sharing similar clinical pathology with ...
ORGANISM(S): Mus musculus (Mouse) 
2023-03-11 | PXD035772 | Pride
Tmt proteomics Mouse efemp1 model Age-related macular degeneration 
GenomicsDevelopment of an antisense oligonucleotide targeting EFEMP1 in models relevant to macular degeneration
Development of an antisense oligonucleotide targeting EFEMP1 in models relevant to macular degeneration
PRJNA1225679 | ENA
TranscriptomicsDevelopment of an antisense oligonucleotide targeting EFEMP1 in models relevant to macular degeneration
Antisense oligonucleotides (ASOs) are RNA targeting therapies with substantial potential for the medical treatment of genetically defined inherited ocular conditions and beyond. The eye is, in principle an ideal model for ASO therapeutic development due to the ease of administration and potential li...
ORGANISM(S): Homo sapiens 
2026-08-03 | GSE289976 | GEO
UnknownEFEMP1 as a Potential Biomarker for Diagnosis and Prognosis of Osteosarcoma.
Not available
S-EPMC7115049 | biostudies-literature
UnknownBiallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.
Not available
S-EPMC7080811 | biostudies-literature
TranscriptomicsTranscription profiling of mouse C57BL/6 Mouse Embryo Culture Model treated with ethanol
Mouse model for Fetal Alcohol Syndrome. Embryos exposed to alcohol in controlled environment to assess teratogenic effects. Fetal Alcohol Syndrome (FAS) is a leading developmental disorder. To date, a holistic view of molecular gene changes is largely unexplored. Using microarray analysis of whole ...
ORGANISM(S): Mus musculus 
2009-09-05 | E-GEOD-9545 | biostudies-arrayexpress
UnknownComplement C5 is not critical for the formation of sub-RPE deposits in Efemp1 mutant mice.
Not available
S-EPMC8128922 | biostudies-literature
UnknownMouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.
Not available
S-EPMC3857944 | biostudies-literature
UnknownGenetic removal of Nlrp3 protects against sporadic and R345W Efemp1-induced basal laminar deposit formation.
Not available
S-EPMC11507711 | biostudies-literature
UnknownGenetic removal of Nlrp3 protects against age-related and R345W Efemp1-induced basal laminar deposit formation.
Not available
S-EPMC12592729 | biostudies-literature
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