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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Mutations in the focal adhesion targeting region of deleted in liver cancer-1 attenuate their expression and function.
PMID 18829524 · PMC2597479 · Cancer research · 2008 · 8 claims · 6 setups
The DLC-1 fragment spanning residues 201-500 is sufficient for focal adhesion targeting (FAT region)
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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one
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Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups
Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings
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Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
PMID 19753315 · PMC2742642 · Molecular vision · 2009 · 8 claims · 5 setups
Wild-type HA-tagged CLRN1 is correctly trafficked to the plasma membrane in transfected BHK-21 cells
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Has reproduction · 55
Arabidopsis RBV is a conserved WD40 repeat protein that promotes microRNA biogenesis and ARGONAUTE1 loading.
PMID 35260568 · PMC8904849 · Nature communications · 2022 · 7 claims · 8 setups
RBV, a WD40 repeat protein, is required for global microRNA biogenesis in Arabidopsis
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Has reproduction · 90
The tumour suppressor L(3)mbt inhibits neuroepithelial proliferation and acts on insulator elements.
PMID 21857667 · PMC3173870 · Nature cell biology · 2011 · 8 claims · 8 setups
Brain tumors in l(3)mbt mutants originate from overproliferation of neuroepithelial cells of the optic lobes, not from defects in asymmetric cell division.
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alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.
PMID 19684871 · PMC2726717 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 5 setups
SNTA1 is a new susceptibility gene for LQTS
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Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.
PMID 18949062 · PMC2571945 · Molecular vision · 2008 · 8 claims · 5 setups
Truncating (nonsense/frameshift) mutations in NHS cause Nance-Horan syndrome by prematurely terminating the protein
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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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A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups
A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.
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A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.
PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups
The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls
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Genomics--from Neanderthals to high-throughput sequencing.
PMID 16934106 · PMC1779599 · Genome biology · 2006 · 8 claims · 8 setups
Next-generation sequencing platforms (GS20/454 and Solexa) can deliver the throughput and cost reductions needed for population-scale and medical resequencing.
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Has reproduction · 57
The identification of a Distinct Astrocyte Subtype that Diminishes in Alzheimer's Disease.
PMID 38502590 · PMC11567244 · Aging and disease · 2024 · 7 claims · 6 setups
A distinct astrocyte subpopulation marked by low GFAP, plus AQP4 and CD63 expression, exists in normal brain but is diminished in AD samples in both human and mouse.
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Has reproduction · 74
Toward a Consensus in the Repertoire of Hemocytes Identified in Drosophila.
PMID 33748138 · PMC7969988 · Frontiers in cell and developmental biology · 2021 · 8 claims · 8 setups
Comparative analysis of three scRNAseq studies identifies eight common, robust hemocyte subgroups associated with distinct functions (proliferation, immune response, phagocytosis, secretion)
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Has reproduction · 85
Colocalization and potential interactions of Endozoicomonas and chlamydiae in microbial aggregates of the coral Pocillopora acuta.
PMID 37196086 · PMC11809670 · Science advances · 2023 · 8 claims · 8 setups
CAMAs are located in the epidermis of the tentacle tips of P. acuta polyps
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Characterization, expression profiles, intracellular distribution and association analysis of porcine PNAS-4 gene with production traits.
PMID 18588709 · PMC2464599 · BMC genetics · 2008 · 8 claims · 7 setups
Porcine PNAS-4 encodes a 194-amino-acid protein that localizes to the Golgi complex
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A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.
PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups
A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.
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Has reproduction · 65
comBO: A combined human bone and lympho-myeloid bone marrow organoid for preclinical modeling of hematopoietic disorders.
PMID 41734765 · PMC7618947 · Cell stem cell · 2026 · 8 claims · 8 setups
comBO is a single iPSC differentiation generating lymphoid, myeloid, vascular, mesenchymal stromal, and functional osteo/adipogenic lineages within one organoid
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Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
PMID 18806880 · PMC2538492 · Molecular vision · 2008 · 8 claims · 4 setups
A novel heterozygous 1493A>T mutation in exon 7 of KRT3, predicting E498V, was identified as the cause of MCD in this family
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Has reproduction · 58
Mucospheres produced by a mixotrophic protist impact ocean carbon cycling.
PMID 35288549 · PMC8921327 · Nature communications · 2022 · 8 claims · 8 setups
P. cf. balticum constructs carbon-rich mucospheres that attract, capture and immobilise microbial prey to facilitate phago-heterotrophic consumption