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 40

System / cell line: heterozygous ✕ Assay: expression ✕ Clear

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
Integrative analysis of RUNX1 downstream pathways and target genes.

PMID 18671852 · PMC2529319 · BMC genomics · 2008 · 7 claims · 8 setups

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Integrating gene expression profiles from three independent RUNX1 perturbation platforms (FPD-AML patient cell lines, RUNX1/CBFβ overexpression in HeLa cells, Runx1 knockout mouse embryos) identifies RUNX1-regulated genes and downstream pathways

lymphoblastic hela runx1 aml cdna microarray affymetrix
Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.

PMID 15500681 · PMC529269 · BMC biotechnology · 2004 · 8 claims · 7 setups

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Both microarray minisequencing formats accurately quantify SNP allele ratios, with R2 > 0.95 for the majority of regression lines

genomic huvec microarray solid-phase real-time
Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?

PMID 16983454 · PMC6275806 · Cellular & molecular biology letters · 2006 · 7 claims · 7 setups

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Human FKBP6 expression is restricted to the testis among 15 adult tissues examined

genomic bilateral testicular rt-pcr mutation testicular
Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.

PMID 16417627 · PMC1382246 · BMC genetics · 2006 · 8 claims · 7 setups

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Heterozygous truncating BRCA2 mutations occur in 47% (7/15) of gastrointestinal MSI cancer cell lines/xenografts, a higher rate than previously reported

gastrointestinal ls174t pl3 msi gene rt-pcr rad51
Mutation of ERBB2 provides a novel alternative mechanism for the ubiquitous activation of RAS-MAPK in ovarian serous low malignant potential tumors.

PMID 19010816 · PMC6953412 · Molecular cancer research : MCR · 2008 · 8 claims · 8 setups

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Activating RAS-MAPK pathway mutations are present in >70% of serous LMP tumors versus ~12.5% of serous ovarian carcinomas

serous same lmp braf-mutant gene hotspot erbb2
Expanding CEP290 mutational spectrum in ciliopathies.

PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.

peripheral genomic quantitative cdna pcr
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
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups

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The E320Q, Q463H, and L706S STAT1 alleles are intrinsically deleterious for both IFNG/GAF-mediated and IFNA/ISGF3-mediated immunity when tested in STAT1-deficient transfected cells

ebv-transformed sv40-transformed nuclear stat1-deficient cdna western immunofluorescence
Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.

PMID 17480121 · PMC1865561 · PLoS genetics · 2007 · 7 claims · 8 setups

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KLF14 is a novel imprinted gene showing monoallelic maternal expression in embryonic and extra-embryonic tissues of both human and mouse

embryonic fetal monochromosomal fibroblasts allele-specific rt-pcr chromatin
Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.

PMID 19116668 · PMC2605564 · PloS one · 2008 · 7 claims · 6 setups

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ASE is more robust than total gene expression approaches to environmental variation and trans-acting genetic factors, giving a cleaner representation of cis-acting effects.

hapmap combined coriell ceu allele-specific linear one-sample
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups

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A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls

family k4425 embryonic scn9a-n641y linkage copy deletion
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

PMID 18680191 · PMC3708306 · American journal of medical genetics. Part A · 2008 · 8 claims · 3 setups

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A novel heterozygous SCN1A frameshift mutation, c.3608delA (p.Gln1203HisfsX4), was identified in a postmortem SMEI patient, located in the D2-D3 intracellular linker of NaV1.1.

postmortem cdna western quantitative
5-methylcytosine RNA modification regulators-based patterns and features of immune microenvironment in acute myeloid leukemia.

PMID 38277218 · PMC10911375 · Aging · 2024 · 8 claims · 8 setups

Has reproduction · 93

Most of the 17 m5C regulators are differentially expressed between AML and normal samples and correlate with AML prognosis.

aml bulk mutation copy
The Drosophila estrogen-related receptor promotes triglyceride storage within the larval fat body.

PMID 40288680 · PMC12155637 · Journal of lipid research · 2025 · 8 claims · 8 setups

Has reproduction · 88

dERR autonomously promotes TAG accumulation within larval fat body cells

mid-l2 larval dissected tag immunofluorescence nile
Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.

PMID 18836848 · PMC4319114 · Journal of inherited metabolic disease · 2008 · 7 claims · 8 setups

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Synergistic heterozygosity — cumulative heterozygous mutations at multiple loci in functionally related metabolic pathways — can cause physiologically relevant reduction of pathway flux and disease.

models liver sucrose vlcad-deficient physiological blue sucrose
Transgenerational inheritance of an acquired small RNA-based antiviral response in C. elegans.

PMID 22119442 · PMC3250924 · Cell · 2011 · 8 claims · 8 setups

Has reproduction · 68

viRNA-mediated silencing of the FR1gfp Flock House virus is transmitted to RNAi-deficient (rde-1 or rde-4 homozygous) progeny and persists for many ensuing generations, i.e. an acquired antiviral trait is inherited.

transgenic elegans four gfp genetic template-independence
Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.

PMID 17470268 · PMC1868757 · BMC genomics · 2007 · 8 claims · 7 setups

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graCNV uses re-annotated Affymetrix expression microarray probe sets and the WPP algorithm to measure DNA copy number variation at a median resolution of ~17,500 bp without genomic complexity reduction.

neuroblastoma same normal megabladder acgh bac principal
The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.

PMID 11161380 · PMC2363702 · British journal of cancer · 2001 · 7 claims · 7 setups

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No CDX2 mutations predisposing to sporadic colorectal cancer were identified

genomic pcr cdna informative sscp pcr automated
ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.

PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups

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Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH

ductal same sporadic paired cdna quantitative genotyping

Experiments

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

Integrative analysis of RUNX1 downstream pathways and target genes.

Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.

Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?

Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.

Mutation of ERBB2 provides a novel alternative mechanism for the ubiquitous activation of RAS-MAPK in ovarian serous low malignant potential tumors.

Expanding CEP290 mutational spectrum in ciliopathies.

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

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.

Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations.

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

5-methylcytosine RNA modification regulators-based patterns and features of immune microenvironment in acute myeloid leukemia.

The Drosophila estrogen-related receptor promotes triglyceride storage within the larval fat body.

Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.

Transgenerational inheritance of an acquired small RNA-based antiviral response in C. elegans.

Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.

The homeobox gene CDX2 in colorectal carcinoma: a genetic analysis.

ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.