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).

Publications 1.3k Datasets 392.5k Experiments 54

System / cell line: wild-type ✕ Assay: activity ✕ Clear

Functional analysis of human mutations in homeodomain transcription factor PITX3.

PMID 17888164 · PMC2093940 · BMC molecular biology · 2007 · 7 claims · 5 setups

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Both S13N and G219fs mutants show partial loss-of-function in DNA-binding and/or transactivation activity, with G219fs more severely affected than S13N

lens western immunocytochemistry electrophoretic
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups

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Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family

hek immunoprecipitated tsc2 peripheral coimmunoprecipitation rheb s6k-t389
The hemolytic and cytolytic activities of Serratia marcescens phospholipase A (PhlA) depend on lysophospholipid production by PhlA.

PMID 20003541 · PMC2800117 · BMC microbiology · 2009 · 8 claims · 8 setups

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S. marcescens possesses a hemolytic factor independent of ShlA, revealed because an shlAB deletion mutant loses contact hemolysis but retains hemolysis on blood agar plates.

marcescens coli his-phla sheep hemolysis contact-dependent functional
Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups

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A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.

genomic hek293 m17 south sscp dual-luciferase pcr-rflp
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups

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A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination

cattle bovine coli affinity-purified snp reverse cdna
Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.

PMID 17408487 · PMC1853099 · BMC microbiology · 2007 · 8 claims · 8 setups

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Arginase activity varies more than 100-fold among H. pylori clinical isolates and laboratory-adapted strains

minimally-passaged pylori coli arginase urease heterologous
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

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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.

family hek293t lymphoid pcr-amplified fluorometric site-directed western
Physiology engages with functional genomics - at last.

PMID 16086845 · PMC1273626 · Genome biology · 2005 · 8 claims · 8 setups

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Large-scale QTL phenotyping in rat strains reveals that most hypertension-related traits are sexually dimorphic

wild-type caenorhabditis kidney pcr qtl enu copas
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.

PMID 16522644 · PMC1390679 · Nucleic acids research · 2006 · 7 claims · 6 setups

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Align-GVGD predicts loss of transactivation activity with high specificity (~88%) but lower sensitivity (67.9-71.2%) for neutral mutants

p53 tp53 yeast-based sequence align-gvgd
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups

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A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice

enu-mutagenized jna cell-free hippocampus locomotor qtl gtp-binding
Searching for genes underlying behavior: lessons from circadian rhythms.

PMID 18988844 · PMC3744585 · Science (New York, N.Y.) · 2008 · 8 claims · 5 setups

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Forward genetic mutagenesis screens successfully identified the molecular components of the circadian clock across Drosophila, Neurospora, cyanobacteria, Arabidopsis, and mouse.

c57bl genomic automated contextual psychostimulant-induced
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

PMID 18725978 · PMC2518116 · PloS one · 2008 · 7 claims · 6 setups

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TP53 mutations, especially those affecting the L2/L3 DNA-binding domains, are associated with resistance (progressive disease) to epirubicin therapy

snap-frozen tumor u-2-os patients pcr bisulphite loss
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups

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Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis

lysosomal full-length pro-peptide bovine homology sequence weblogo
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

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A novel FAH gene mutation, c.103G>A (Ala35Thr), causes a mild, atypical form of tyrosinemia type I

fibroblasts liver genomic tnt northern western liver
Tyrosine phosphorylation inhibits PKM2 to promote the Warburg effect and tumor growth.

PMID 19920251 · PMC2812789 · Science signaling · 2009 · 7 claims · 8 setups

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Oncogenic FGFR1 directly phosphorylates PKM2 at tyrosine 105 (Y105), inhibiting its enzymatic activity

293t kg-1a recombinant h1299 ms-based co-transfection enzymatic
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

microdissected resected non-tumor liver pcr-rflp immunohistochemistry western
Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling.

PMID 11435474 · PMC2193443 · The Journal of experimental medicine · 2001 · 8 claims · 7 setups

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MD-2 is a required component of the LPS signaling complex; a point mutation in MD-2 abolishes LPS-induced signaling

cho hek western nf-kb il-6
Finding the needle in the haystack: why high-throughput screening is good for your health.

PMID 12100740 · PMC138735 · Breast cancer research : BCR · 2002 · 8 claims · 8 setups

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HTS is essential for finding lead compounds, especially for novel targets whose active-site structure is unknown

raf-1 mitotic mutant tumor biochemical cell-based conformational
Characterization of genome-wide p53-binding sites upon stress response.

PMID 18474530 · PMC2441782 · Nucleic acids research · 2008 · 7 claims · 7 setups

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Genome-wide ChIP-on-chip identified 1546 high-confidence p53-binding sites upon Actinomycin D treatment in U2OS cells

u2os saos-2 chip-on-chip chip-qpcr western
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

Has reproduction · 50

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.

erwinia intergenic candidate wounded small northern race

Experiments

Functional analysis of human mutations in homeodomain transcription factor PITX3.

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

The hemolytic and cytolytic activities of Serratia marcescens phospholipase A (PhlA) depend on lysophospholipid production by PhlA.

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.

A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

Physiology engages with functional genomics - at last.

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

Searching for genes underlying behavior: lessons from circadian rhythms.

CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

Tyrosine phosphorylation inhibits PKM2 to promote the Warburg effect and tumor growth.

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling.

Finding the needle in the haystack: why high-throughput screening is good for your health.

Characterization of genome-wide p53-binding sites upon stress response.

Genome-wide identification of Hfq-regulated small RNAs in the fire blight pathogen Erwinia amylovora discovered small RNAs with virulence regulatory function.