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
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups
HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition
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Has reproduction · 82
The GATA factor ELT-3 specifies endoderm in Caenorhabditis angaria in an ancestral gene network.
PMID 36196618 · PMC9720673 · Development (Cambridge, England) · 2022 · 8 claims · 8 setups
Can-elt-3 (and orthologues in C. portoensis and C. monodelphis) is expressed in the early E lineage prior to elt-2 orthologue expression
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Has reproduction · 92
Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.
PMID 41124077 · PMC12795473 · Cell reports · 2025 · 6 claims · 5 setups
Non-DNA-contacting residues, especially in the loop between helices 2 and 3 and in wing 2, control mono- vs. bispecificity of FH domains for the FKH and FHL motifs
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Has reproduction · 46
Cancer cells copy migratory behavior and exchange signaling networks via extracellular vesicles.
PMID 29907695 · PMC6068466 · The EMBO journal · 2018 · 8 claims · 8 setups
B16F1 and B16F10 melanoma subclones functionally exchange EVs in vivo, transferring Cre mRNA cargo detectable via a Cre-LoxP color-switch reporter system
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Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups
A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.
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Has reproduction · 67
The TREM2-APOE Pathway Drives the Transcriptional Phenotype of Dysfunctional Microglia in Neurodegenerative Diseases.
PMID 28930663 · PMC5719893 · Immunity · 2017 · 8 claims · 8 setups
A common APOE-dependent microglial molecular signature (MGnD) — loss of homeostatic genes plus induction of inflammatory genes with Apoe among the most upregulated — occurs in ALS, MS and AD mouse models and around neuritic Aβ-plaques in human AD brain.
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The diagnosis and management of pre-invasive breast disease: promise of new technologies in understanding pre-invasive breast lesions.
PMID 14580250 · PMC314415 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups
ADH and ductal carcinoma in situ (DCIS) are precursor lesions molecularly similar to adjacent invasive breast cancer
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Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups
The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)
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A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups
A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.
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Application of ecotoxicogenomics for studying endocrine disruption in vertebrates and invertebrates.
PMID 16818254 · PMC1874166 · Environmental health perspectives · 2006 · 8 claims · 8 setups
Estrogen-responsive genes in mouse uterus are induced in a dose-dependent, ER-α-dependent manner, as shown by loss of induction in ER-α knockout mice.
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Dark matter in a deep-sea vent and in human mouth.
PMID 17803764 · PMC2040194 · Environmental microbiology · 2007 · 7 claims · 8 setups
The first genome sequence from the uncultured TM7 phylum was obtained by capturing and sequencing DNA from a single cell using a microfluidic device, yielding a 2.86 Mb assembly with 3245 predicted genes.
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Mutations of the Igbeta gene cause agammaglobulinemia in man.
PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups
A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient
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A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.
PMID 17596672 · PMC2693656 · Journal of Korean medical science · 2007 · 7 claims · 8 setups
Two members of a Korean family (mother and son) with generalized RTH harbor a novel insertion mutation, 1358_1359insC, in exon 10 of the THRB gene, causing a frameshift (Leu454PhefsX11)
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Functional genomics in zebrafish permits rapid characterization of novel platelet membrane proteins.
PMID 19109564 · PMC2680375 · Blood · 2009 · 8 claims · 6 setups
Zebrafish morpholino knockdown combined with a laser-induced arterial thrombosis assay is a fast, powerful method for initial functional screening of novel platelet genes.
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A genetically hard-wired metabolic transcriptome in Plasmodium falciparum fails to mount protective responses to lethal antifolates.
PMID 19023412 · PMC2581438 · PLoS pathogens · 2008 · 7 claims · 5 setups
WR99210 treatment does not overproduce protective levels of DHFR-TS RNA, the gene's principal target
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Tuberculosis vaccine strain Mycobacterium bovis BCG Russia is a natural recA mutant.
PMID 18637199 · PMC2483709 · BMC microbiology · 2008 · 8 claims · 5 setups
A RecA- phenotype increases genetic stability and may help restrict ongoing genome evolution of BCG substrains while maintaining protective efficacy
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Crystallin gene mutations in Indian families with inherited pediatric cataract.
PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups
Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population
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Has reproduction · 50
Genome-wide identification of Hfq-regulated small RNAs in the fire blight pathogen Erwinia amylovora discovered small RNAs with virulence regulatory function.
PMID 24885615 · PMC4070566 · BMC genomics · 2014 · 8 claims · 8 setups
A total of 40 candidate Hfq-dependent sRNAs were identified genome-wide in E. amylovora by combining RNA-seq with a Rho-independent terminator search.
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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups
A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family
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Phosphoproteomic analysis of human embryonic stem cells.
PMID 19664994 · PMC2726933 · Cell stem cell · 2009 · 8 claims · 6 setups
MDLC-MS/MS phosphoproteomics identified 2546 phosphorylation sites on 1602 phosphoproteins in undifferentiated hESCs and their differentiated derivatives