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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Characterization of detergent-insoluble proteins in ALS indicates a causal link between nitrative stress and aggregation in pathogenesis.
PMID 19956584 · PMC2780298 · PloS one · 2009 · 8 claims · 8 setups
The Triton X-100-insoluble fraction (TIF) from spinal cord of G93A SOD1 mice is enriched in specific proteins (cytoskeletal, chaperone, mitochondrial, metabolic, signaling) compared to WT mice, already at a preclinical stage.
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Has reproduction · 94
Hierarchical cell-type identifier accurately distinguishes immune-cell subtypes enabling precise profiling of tissue microenvironment with single-cell RNA-sequencing.
PMID 36681937 · PMC10025442 · Briefings in bioinformatics · 2023 · 8 claims · 8 setups
HiCAT is a hierarchical, marker-based cell-type identifier that uses gene set analysis (GSA) scoring with markers structured in a three-level taxonomy tree (major-type, minor-type, subset)
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Has reproduction · 44
Weighted gene co-expression network analysis reveals that CXCL10, IRF7, MX1, RSAD2, and STAT1 are related to the chronic stage of spinal cord injury.
PMID 34532385 · PMC8421925 · Annals of translational medicine · 2021 · 8 claims · 7 setups
The brown co-expression module (775 genes) is the module most significantly associated with the chronic stage of SCI
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Has reproduction · 26
Integrating transcriptomic datasets across neurological disease identifies unique myeloid subpopulations driving disease-specific signatures.
PMID 36527260 · PMC10952672 · Glia · 2023 · 6 claims · 3 setups
The bulk microglial and monocyte transcriptomic program is highly contingent on the disease environment, challenging the notion of a universal microglial disease signature
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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups
SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4
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Proteomic profiling of the amniotic fluid to detect inflammation, infection, and neonatal sepsis.
PMID 17227133 · PMC1769412 · PLoS medicine · 2007 · 8 claims · 8 setups
Higher MR scores (severe, 3-4) are associated with significantly shorter amniocentesis-to-delivery intervals than minimal (1-2) or no (0) inflammation
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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups
Mutations in GLE1, an mRNA export mediator, cause LCCS1
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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups
Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C
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Proteomic and functional characterisation of platelet microparticle size classes.
PMID 19806257 · PMC2861410 · Thrombosis and haemostasis · 2009 · 8 claims · 8 setups
PMP separated by gel filtration into 4 size classes differ in protein content, phospholipid/protein ratio, and functional effects on platelets and endothelial cells
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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups
No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.
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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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A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups
A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family