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 135

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

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
TP53 intron 6 polymorphism and the risk of ovarian and breast cancer.

PMID 9484829 · PMC2149940 · British journal of cancer · 1998 · 5 claims · 2 setups

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The N' allele (G-to-A variant) is significantly more prevalent in ovarian cancer patients than in controls (P=0.01)

peripheral genotype pcr chi-square
isoSeQL: comparing long-read isoforms across multiple datasets.

PMID 41452740 · PMC12790818 · Bioinformatics (Oxford, England) · 2026 · 8 claims · 4 setups

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isoSeQL enables comparison of long-read isoform profiles across multiple datasets by consolidating SQANTI3-annotated samples into a unified SQLite database with consistent isoform IDs

gencode simulated gm12878 peripheral intron simulated long-read
Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.

PMID 18953408 · PMC2568805 · PloS one · 2008 · 8 claims · 8 setups

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Re-sequencing and genotyping across a 28.5 kb region delineates the prostate cancer risk association within FHIT intron 5 to a 15 kb LD block in European-Americans.

european-american yoruban japanese case sanger snp linkage
Identification of six new polymorphisms in the human coronavirus 229E receptor gene (aminopeptidase N/CD13).

PMID 15234325 · PMC7129141 · International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases · 2004 · 7 claims · 3 setups

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Human aminopeptidase N (APN/CD13/ANPEP) is the receptor for human coronavirus 229E (HCoV-229E)

genomic cloned consensus pcr molecular sequence
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
Organelle Genomes and Transcriptomes of Nymphaea Reveal the Interplay between Intron Splicing and RNA Editing.

PMID 34576004 · PMC8466565 · International journal of molecular sciences · 2021 · 8 claims · 8 setups

Has reproduction · 76

Both cis- and trans-splicing group II introns in Nymphaea organelle genomes are spliced in random order, generating diverse co-existing intermediates rather than following a fixed splicing sequence.

nymphaea joey liriodendron pacbio illumina strand-specific
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups

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Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P

family additional unrelated mutant direct linkage targeted
Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups

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Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls

genomic postmortem nimhgi esr1 targeted case-control family-based
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
Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

PMID 19967551 · PMC7370861 · Journal of clinical immunology · 2010 · 8 claims · 8 setups

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Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11

genomic peripheral blood fresh direct snp rt-pcr
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
Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits.

PMID 33461502 · PMC7812657 · Genetics, selection, evolution : GSE · 2021 · 7 claims · 5 setups

Has reproduction · 90

Gene expression, exon expression, and intron excision ratio (splicing) molecular phenotypes are significantly heritable in sheep liver and muscle

liver sheep sequencing snp heritability
Eight previously unidentified mutations found in the OA1 ocular albinism gene.

PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups

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Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.

genomic oa1 direct long-range splice-site
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
Multiple epiphyseal dysplasia.

PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups

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An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members

family patients microsatellite sequencing clinical
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

PMID 19901218 · PMC3514888 · Archives of ophthalmology (Chicago, Ill. : 1960) · 2009 · 8 claims · 4 setups

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No COL2A1 mutations were found, making ocular Stickler syndrome an unlikely diagnosis for this family

genomic family complete pcr clinical
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

PMID 19786220 · PMC3309400 · Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2009 · 7 claims · 5 setups

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SLC26A4 mutations are highly prevalent in Chinese patients with SNHL and EVA, with mutations found in 100% (32/32) of subjects.

blood-derived subjects mutation pure high-resolution
Different molecular patterns in glioblastoma multiforme subtypes upon recurrence.

PMID 19644652 · PMC2811648 · Journal of neuro-oncology · 2010 · 7 claims · 5 setups

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Type 1 GBM (p53 mutation, no EGFR amplification) and type 2 GBM (EGFR amplification, no p53 mutation) conserve their original molecular pattern at relapse.

paired gbm sequencing semiquantitative microsatellite
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

Experiments

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

TP53 intron 6 polymorphism and the risk of ovarian and breast cancer.

isoSeQL: comparing long-read isoforms across multiple datasets.

Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk.

Identification of six new polymorphisms in the human coronavirus 229E receptor gene (aminopeptidase N/CD13).

Free circular introns with an unusual branchpoint in neuronal projections.

Organelle Genomes and Transcriptomes of Nymphaea Reveal the Interplay between Intron Splicing and RNA Editing.

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

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

Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

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

Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits.

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

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

Multiple epiphyseal dysplasia.

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

Different molecular patterns in glioblastoma multiforme subtypes upon recurrence.

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.