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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Neuroscience in the era of functional genomics and systems biology.
PMID 19829370 · PMC3645852 · Nature · 2009 · 8 claims · 7 setups
Omics/discovery-based approaches do not eschew hypotheses but elevate hypothesis testing to high-throughput hypothesis generation and prioritization.
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A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.
PMID 11305939 · PMC31480 · Genome biology · 2001 · 8 claims · 8 setups
SLC4A9 is a novel human NBC-like gene on chromosome 5q31 encoding a 990-amino-acid, 12-transmembrane-domain protein with high similarity to other sodium bicarbonate cotransporters
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes.
PMID 15809229 · PMC1074396 · Nucleic acids research · 2005 · 8 claims · 6 setups
Comparative gene finding (SGP2) between human and chicken, followed by RT-PCR verification, adds at most ~0.2% new genes to the multi-exonic human gene catalog
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X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.
PMID 14966353 · PMC2822247 · Journal of Korean medical science · 2004 · 8 claims · 7 setups
The patient's X-SCID is caused by a C690T point mutation in exon 5 of the γc chain gene, producing an R226C amino acid substitution.
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Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups
dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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52-kD SS-A/Ro: genomic structure and identification of an alternatively spliced transcript encoding a novel leucine zipper-minus autoantigen expressed in fetal and adult heart.
PMID 7561701 · PMC2192297 · The Journal of experimental medicine · 1995 · 7 claims · 7 setups
The 52-kD SS-A/Ro gene spans 10 kb of DNA and is composed of seven exons, with the translation initiation codon in exon 2 and the leucine zipper encoded by exon 4.
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Biphasic expression of thyroid hormone receptor TRβ1 in mammalian retina and anterior ocular tissues.
PMID 37033230 · PMC10076699 · Frontiers in endocrinology · 2023 · 7 claims · 8 setups
TRβ1 shows a biphasic, late-peaking expression profile in retina that contrasts with the early embryonic peak of TRβ2
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PRKCA and multiple sclerosis: association in two independent populations.
PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups
PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families
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Alternative splicing of human peroxisome proliferator-activated receptor delta (PPAR delta): effects on translation efficiency and trans-activation ability.
PMID 17705821 · PMC2045109 · BMC molecular biology · 2007 · 8 claims · 8 setups
Multiple alternatively spliced 5'-UTR isoforms of human PPARdelta mRNA differ in translation efficiency
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A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups
A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.