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 146

System / cell line: alleles ✕ Clear

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

PMID 38600112 · PMC11006913 · Nature communications · 2024 · 8 claims · 5 setups

Has reproduction · 93

Many of the 92 assayed HD missense variants alter DNA binding affinity and/or specificity compared to their corresponding reference alleles

homeodomain hoxd13 cerevisiae amino universal chip-seq electrophoretic
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.

PMID 11870543 · PMC2375272 · British journal of cancer · 2002 · 8 claims · 5 setups

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DFFA is localized within the 1p36.2-3 smallest region of overlap (SRO) of deletions defined in Scandinavian neuroblastoma tumours, distal to marker D1S244

scandinavian chromosome unfinished neuroblastoma pcr bac-library in-silico
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups

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The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.

8-year-old muscle lower skeletal molecular immunostaining electromyogram
Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).

PMID 15836796 · PMC1090573 · BMC genomics · 2005 · 8 claims · 7 setups

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89 polymorphic microsatellite markers were developed from rainbow trout EST-derived cDNA clones

normalized rainbow salmonids microsatellite sanger pcr
Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.

PMID 17264398 · PMC3850613 · Disease markers · 2006 · 7 claims · 4 setups

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Significant associations (p ≤ 0.01) were found between BPD subgroups and alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B

greek genomic family-based pyrosequencing pcr
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups

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All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism

genomic pcr-amplified ldlr blood long-range cycle diagnostic
New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus.

PMID 16340004 · PMC1310899 · Nucleic acids research · 2005 · 7 claims · 8 setups

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Long pure palindromes (>~200 bp) cannot be stably cloned in E.coli due to cruciform-driven instability, and no E.coli mutant fully overcomes this cloning block.

individuals e.coli cerevisiae yeast pcr plasmid phi-29
A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy.

PMID 19083245 · PMC2662477 · Blood cells, molecules & diseases · 2009 · 7 claims · 4 setups

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A new CYP2C9 coding polymorphism, G1078A (D360N) in exon 7, was identified in an African American patient who experienced major gastrointestinal hemorrhage on warfarin therapy

african index cyp2c9 study pyrosequencing pcr custom
The mammalian phenotype ontology: enabling robust annotation and comparative analysis.

PMID 20052305 · PMC2801442 · Wiley interdisciplinary reviews. Systems biology and medicine · 2009 · 8 claims · 6 setups

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The Mammalian Phenotype (MP) Ontology enables classification and organization of phenotypic data for mouse and other mammalian species in a computationally useful, standardized manner.

genotypes neural inbred viable phenotype phylogenetic comparative
Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.

PMID 19754929 · PMC2759954 · BMC genetics · 2009 · 8 claims · 4 setups

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Breast tumor heterozygotes show a significant difference in relative mRNA levels between the two alleles of rs4986938

breast hek293 erβ1 allelic luciferase stability
Investigations on a clinically and functionally unusual and novel germline p53 mutation.

PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups

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A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.

peripheral yeast saos-2 genomic fasay apoptotic
Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

PMID 16429166 · PMC1342637 · PLoS genetics · 2005 · 8 claims · 5 setups

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PANTHER subPSEC scores correctly predicted the functional impact of >94% (16/17) of tested naturally occurring ABCA1 variants

abca1 stably subpsec cholesterol rt-pcr
Identification of functional SNPs in the 5-prime flanking sequences of human genes.

PMID 15717931 · PMC550646 · BMC genomics · 2005 · 6 claims · 5 setups

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7 of 10 candidate SNPs tested by EMSA showed reproducible allele-specific differences in TF-DNA complex binding/stability

flanking synthetic genomic cloned comparative electrophoretic rflp
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

PMID 18157127 · PMC2397541 · Nature genetics · 2008 · 8 claims · 8 setups

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Homozygous truncating mutations in PCNT cause Seckel syndrome

consanguineous genomic lymphoblastoid lcls snp-microarray sanger immunofluorescence
A universal mechanism ties genotype to phenotype in trinucleotide diseases.

PMID 18039028 · PMC2082501 · PLoS computational biology · 2007 · 8 claims · 5 setups

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A universal mechanism of somatic, length-dependent trinucleotide repeat expansion toward a disease-specific pathological threshold explains genotype-phenotype correlations common to trinucleotide diseases

dominant recessive patients homozygous computer mathematical
Phagosome maturation: going through the acid test.

PMID 18813294 · PMC2908392 · Nature reviews. Molecular cell biology · 2008 · 8 claims · 8 setups

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Maturation of apoptotic cell-containing phagosomes proceeds via machinery mechanistically distinct from receptor-mediated endocytosis

caenorhabditis elegans swiss phagosomes rnai genetic acridine
Systems biology: where it's at in 2005.

PMID 16086862 · PMC1273629 · Genome biology · 2005 · 8 claims · 8 setups

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High-throughput genetic-interaction and physical-interaction maps show only minimal overlap with each other, whereas literature-derived genetic and physical interaction maps share a much greater fraction of edges

saccharomyces drosophila environmental literature systematic genome-wide
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

PMID 22821884 · PMC4166655 · American journal of medical genetics. Part A · 2012 · 8 claims · 6 setups

Has reproduction · 88

A novel heterozygous HRAS c.266C>G (p.S89C) germline mutation was identified in two siblings with severe fetal hydrops/pleural effusion (Patient 1) and polyhydramnios/Dandy-Walker malformation (Patient 2).

cos-7 parental hras genomic ras immunoblotting egf
Population structure analysis of Salmonella serovar Muenchen to redefine geno-serotyping using genome indexing approaches.

PMID 41743541 · PMC12929376 · Frontiers in microbiology · 2025 · 8 claims · 7 setups

Has reproduction · 54

bettercallsal, leveraging the NCBI Pathogen Detection database, enhances serovar resolution by incorporating genome proximity calls

salmonella same megahit-assembled genome genome-indexing antigen-based cgmlst-based
Frequency and patterns of ribonucleotide incorporation around autonomously replicating sequences in yeast reveal the division of labor of replicative DNA polymerases.

PMID 34551434 · PMC8501979 · Nucleic acids research · 2021 · 6 claims · 4 setups

Has reproduction · 75

rNTP incorporation is preferentially found on the leading strand in yeast cells expressing wild-type replicative DNA polymerases

saccharomyces model ribose-seq emriboseq rhii-hyden-seq

Experiments

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).

Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus.

A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy.

The mammalian phenotype ontology: enabling robust annotation and comparative analysis.

Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.

Investigations on a clinically and functionally unusual and novel germline p53 mutation.

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

Identification of functional SNPs in the 5-prime flanking sequences of human genes.

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

A universal mechanism ties genotype to phenotype in trinucleotide diseases.

Phagosome maturation: going through the acid test.

Systems biology: where it's at in 2005.

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

Population structure analysis of Salmonella serovar Muenchen to redefine geno-serotyping using genome indexing approaches.

Frequency and patterns of ribonucleotide incorporation around autonomously replicating sequences in yeast reveal the division of labor of replicative DNA polymerases.