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 71

System / cell line: intron ✕ Assay: coding ✕ Clear

Large-scale trends in the evolution of gene structures within 11 animal genomes.

PMID 16518452 · PMC1386723 · PLoS computational biology · 2006 · 8 claims · 5 setups

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Change in intron–exon gene structure is gradual, clock-like, and largely independent of coding-sequence (protein) evolution

annotated animal unannotated comparative all-against-all neighbor-joining
Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups

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Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded

genomic predicted archival mutation targeted functional
The excess of 5' introns in eukaryotic genomes.

PMID 16314314 · PMC1292992 · Nucleic acids research · 2005 · 7 claims · 4 setups

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All 21 eukaryotic genomes studied show a statistically significant 5′-biased distribution of introns in protein-coding genes

eukaryotic same housekeeping comparative chi-square bidirectional
Designating eukaryotic orthology via processed transcription units.

PMID 18445630 · PMC2425467 · Nucleic acids research · 2008 · 8 claims · 5 setups

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Existing ortholog databases discard/ignore alternative splicing via all-against-all protein comparisons, causing ambiguous ortholog calls and misclassification of AS isoforms as in-paralogs

ortholog blat exon-intron blast-based
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

PMID 15890066 · PMC1142516 · BMC medical genetics · 2005 · 7 claims · 3 setups

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Screening of the PITX2 coding region and exon-intron junctions in 96 dTGA patients revealed no stop or frameshift mutations.

genomic pcr denaturing direct
Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

PMID 18955805 · PMC2580002 · Journal of Korean medical science · 2008 · 8 claims · 1 setups

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The patient is a compound heterozygote for CFTR mutations c.263T>G (p.Leu88X) in exon 3 and c.2089-2090insA (p.Arg697LysfsX33) in exon 13

peripheral direct
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups

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The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.

bac heart ccs genomic genomic rt-pcr transcription
Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups

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Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed

genomic hela itgb1bp2 melusin direct minigene in-silico
Identifying synonymous regulatory elements in vertebrate genomes.

PMID 15980499 · PMC1160227 · Nucleic acids research · 2005 · 7 claims · 4 setups

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SynoR is a tool that performs de novo genome-wide identification of synonymous regulatory elements (SREs) using evolutionarily conserved TFBS modules as seeds

genome genes genome-wide gene tissue-specificity
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
SVC: structured visualization of evolutionary sequence conservation.

PMID 15991338 · PMC1160265 · Nucleic acids research · 2005 · 7 claims · 5 setups

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SVC aligns protein-coding sequences of orthologous gene pairs and maps them back onto their encoding exons/introns to generate a scaffold of conserved gene structure.

orthologous exonic tblastx blastn sliding-window
Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms.

PMID 16916449 · PMC1559705 · BMC genomics · 2006 · 8 claims · 5 setups

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Genome-wide, both intronic SNPs (iSNPs) and FFD SNPs show a significant excess of A→G over complementary T→C substitutions, confirming prior transcription-coupled repair (TCR) findings from a single chromosome 7 region.

autosomal intronic chimpanzee genes comparative human-chimpanzee background
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

PMID 18552984 · PMC2426732 · Molecular vision · 2008 · 8 claims · 4 setups

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Coding/flanking regions of RHO, PRPF31, and IMPDH1, plus exons 4F/4G/4H of RP1, were PCR-amplified and directly sequenced in 48 isolated and 53 adRP Indian patients and 75 controls

genomic peripheral probands identified pcr reverse clinical
Visualizing the genome: techniques for presenting human genome data and annotations.

PMID 12149135 · PMC119855 · BMC bioinformatics · 2002 · 8 claims · 4 setups

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Web-based client-server genome browsers (e.g., LocusLink evidence viewer, UCSC genome browser) are limited by lack of true interactivity, requiring server round-trips for navigation

flj22324 snurf arg1 plat cdna-to-genomic multi-track frame-of-translation
Free circular introns with an unusual branchpoint in neuronal projections.

PMID 31697236 · PMC6879206 · eLife · 2019 · 8 claims · 7 setups

Has reproduction · 99

A set of free circular introns with a non-canonical (C) branchpoint is enriched in distal neuronal projections; these appear to be tailless lariats that escape debranching.

hippocampal cytoplasmic rrna-depleted polya-site ribosome
Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups

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Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls

peripheral ceph individuals cases strp genotyping fluorescent
ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

genomic red computational abo sequencing blood
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups

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No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.

genomic dog sage pcr northern sage
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups

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Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)

genomic erythrocyte gnas sanger methylation-specific microsatellite
Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).

PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups

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Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene

mm.1s pcr demethylating quantitative

Experiments

Large-scale trends in the evolution of gene structures within 11 animal genomes.

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

The excess of 5' introns in eukaryotic genomes.

Designating eukaryotic orthology via processed transcription units.

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

Identifying synonymous regulatory elements in vertebrate genomes.

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

SVC: structured visualization of evolutionary sequence conservation.

Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms.

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

Visualizing the genome: techniques for presenting human genome data and annotations.

Free circular introns with an unusual branchpoint in neuronal projections.

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).