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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A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
PMID 20003495 · PMC2802351 · Orphanet journal of rare diseases · 2009 · 8 claims · 7 setups
A novel FAH gene mutation, c.103G>A (Ala35Thr), causes a mild, atypical form of tyrosinemia type I
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Tumor cell metabolism: the marriage of molecular genetics and proteomics with cellular intermediary metabolism; proceed with caution!
PMID 17090311 · PMC1636067 · Molecular cancer · 2006 · 8 claims · 5 setups
Genetic/proteomic alterations will have little relevancy to disease processes if they are not manifested in altered and impaired cellular and metabolic function
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Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.
PMID 17408487 · PMC1853099 · BMC microbiology · 2007 · 8 claims · 8 setups
Arginase activity varies more than 100-fold among H. pylori clinical isolates and laboratory-adapted strains
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters.
PMID 12237774 · PMC2364248 · British journal of cancer · 2002 · 8 claims · 8 setups
RhoA, RhoB, Rac1 and Cdc42 protein levels are markedly overexpressed in breast tumours compared to matched normal tissue from the same patient
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Identification of novel citrullinated autoantigens of synovium in rheumatoid arthritis using a proteomic approach.
PMID 17125526 · PMC1794520 · Arthritis research & therapy · 2006 · 8 claims · 6 setups
51 citrullinated protein spots were detected in RA synovial tissue, of which 30 (58.8%) were autoantigenic (reactive with RA sera)
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Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.
PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups
The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.
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mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice.
PMID 19763141 · PMC2909846 · Journal of human genetics · 2009 · 8 claims · 8 setups
The G10398A cybrid shows slower proliferation and delayed cell cycle progression (G1 accumulation, decreased G2/M) compared to wild-type G10398 cybrid
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Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.
PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups
Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels
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The protein-phosphatome of the human malaria parasite Plasmodium falciparum.
PMID 18793411 · PMC2559854 · BMC genomics · 2008 · 8 claims · 8 setups
P. falciparum possesses 27 putative protein phosphatase sequences across the four major PP families (PPP, PPM, PTP, NIF), plus 7 additional sequences predicted to dephosphorylate non-protein substrates, totaling 34.
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Proteomic analysis identifies MMP-9, DJ-1 and A1BG as overexpressed proteins in pancreatic juice from pancreatic ductal adenocarcinoma patients.
PMID 18706098 · PMC2528014 · BMC cancer · 2008 · 7 claims · 6 setups
MMP-9, DJ-1 and A1BG are overexpressed in pancreatic juice and tissue from PDAC patients compared with cancer-free/normal controls
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A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
PMID 19864672 · PMC2793117 · The New England journal of medicine · 2009 · 7 claims · 7 setups
A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.
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Single-nucleus mRNA-sequencing reveals dynamics of lipogenic and thermogenic adipocyte populations in murine brown adipose tissue in response to cold exposure.
PMID 40945691 · PMC12506565 · Molecular metabolism · 2025 · 8 claims · 8 setups
snRNA-seq of murine BAT identifies seven distinct brown adipocyte subtypes with distinct metabolic profiles, part of a 21-cell-type atlas.
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Development of animal models to test the fundamental basis of gene-environment interactions.
PMID 19037209 · PMC2703424 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups
Selective breeding for low and high intrinsic aerobic treadmill running capacity produced divergent rat lines (LCR and HCR) that contrast in propensity for complex disease
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups
A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).
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Human Protein Reference Database--2009 update.
PMID 18988627 · PMC2686490 · Nucleic acids research · 2009 · 8 claims · 8 setups
HPRD is a curated database of experimentally derived human protein-protein interactions, post-translational modifications, and tissue expression data
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Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.
PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups
pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC