Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Has reproduction · 84
Genetically engineered stem cell-derived retinal grafts for improved retinal reconstruction after transplantation.
PMID 34409267 · PMC8361135 · iScience · 2021 · 8 claims · 7 setups
Bhlhb4−/− and Islet1−/− grafts have markedly reduced bipolar cell populations after transplantation while retaining intact photoreceptor cell layers
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A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups
A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.
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Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
PMID 18552984 · PMC2426732 · Molecular vision · 2008 · 8 claims · 4 setups
Coding/flanking regions of RHO, PRPF31, and IMPDH1, plus exons 4F/4G/4H of RP1, were PCR-amplified and directly sequenced in 48 isolated and 53 adRP Indian patients and 75 controls
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Mutations in NYX of individuals with high myopia, but without night blindness.
PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups
Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.
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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups
Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21
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Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
PMID 16597330 · PMC1456953 · BMC medical genetics · 2006 · 8 claims · 5 setups
Three novel RP1 truncating mutations (Gln686Ter, Lys705fsX712, Lys722fsX737) cause adRP
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Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.
PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups
High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.