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).
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Has reproduction · 66
Prime editing in mice reveals the essentiality of a single base in driving tissue-specific gene expression.
PMID 33722289 · PMC7962346 · Genome biology · 2021 · 7 claims · 8 setups
A three-base-pair (HDR) or single-base (PE2) substitution in the Tspan2 CArG box causes cell-specific loss of Tspan2 mRNA in aorta and bladder, but not heart or brain
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Continued colonization of the human genome by mitochondrial DNA.
PMID 15361937 · PMC515365 · PLoS biology · 2004 · 7 claims · 6 setups
NUMT insertion into nuclear chromosomes is an ongoing process shaped by double-strand-break repair (as shown in yeast) and continuing in humans.
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GREM, a technique for genome-wide isolation and quantitative analysis of promoter active repeats.
PMID 16698959 · PMC3303178 · Nucleic acids research · 2006 · 7 claims · 5 setups
GREM enables genome-wide isolation and quantitative analysis of transcriptionally active (promoter-active) repetitive elements while excluding read-through transcript background
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An integrative genomic and epigenomic approach for the study of transcriptional regulation.
PMID 18365023 · PMC2266992 · PloS one · 2008 · 8 claims · 7 setups
Integrative analysis combining gene expression, DNA methylation, and H3K9 acetylation data reveals hundreds of additional differentially expressed genes missed by gene expression arrays alone
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Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.
PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups
Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent
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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.
PMID 17142224 · PMC1669776 · Nucleic acids research · 2006 · 8 claims · 8 setups
Pure (GAA·TTC)44+ alleles at the FXN locus are unstable in human somatic cells in vivo, showing both expansions and contractions.
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Has reproduction · 68
Identification of new ETV6 modulators through a high-throughput functional screening.
PMID 35198911 · PMC8851229 · iScience · 2022 · 7 claims · 8 setups
A genome-wide shRNA screen in an engineered ETV6-dependent Blasticidin-sensitive pre-B ALL cell line can identify modulators of ETV6 repressive transcriptional activity
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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
PMID 12702206 · PMC154576 · Genome biology · 2003 · 8 claims · 6 setups
Segmental duplications comprise 3.53% (107.4/3,043.1 Mb) of the June 2002 human genome assembly
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Effects of DNA-targeted ionizing radiation produced by 5-[125I]iodo-2'-deoxyuridine on global gene expression in primary human cells.
PMID 17594496 · PMC1934370 · BMC genomics · 2007 · 8 claims · 7 setups
125I-IUdR-induced DNA damage alters expression of only a limited subset of genes in primary human cells
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups
40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups
Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1
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A genome-wide screen for copy number alterations in Aicardi syndrome.
PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.
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Integration of cytogenetic landmarks into the draft sequence of the human genome.
PMID 11237021 · PMC7845515 · Nature · 2001 · 8 claims · 6 setups
7,600 cytogenetically defined landmarks (from a set of 8,877 clones) were placed on the draft sequence of the human genome as a public resource
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Identification of the REST regulon reveals extensive transposable element-mediated binding site duplication.
PMID 16899447 · PMC1557810 · Nucleic acids research · 2006 · 8 claims · 8 setups
The RE1 PSSM identifies functional RE1 binding sites with greater sensitivity and selectivity than the previously used RE1 consensus sequence
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Identification, characterization and comparative genomics of chimpanzee endogenous retroviruses.
PMID 16805923 · PMC1779541 · Genome biology · 2006 · 8 claims · 6 setups
The chimpanzee genome contains at least 42 separate families of endogenous retroviruses, 9 newly identified
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Genome-wide location analysis and expression studies reveal a role for p110 CUX1 in the activation of DNA replication genes.
PMID 18003658 · PMC2248751 · Nucleic acids research · 2008 · 8 claims · 8 setups
p110 CUX1 is recruited to promoters of cell cycle-related target genes preferentially during S phase
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Genome-wide analysis of KAP1 binding suggests autoregulation of KRAB-ZNFs.
PMID 17542650 · PMC1885280 · PLoS genetics · 2007 · 8 claims · 7 setups
H3me3K9 and H3me3K27 mark largely mutually exclusive, distinct classes of transcription factor genes: H3me3K9 at ZNF genes, H3me3K27 at homeobox genes
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Genome-wide siRNA-based functional genomics of pigmentation identifies novel genes and pathways that impact melanogenesis in human cells.
PMID 19057677 · PMC2585813 · PLoS genetics · 2008 · 7 claims · 8 setups
Genome-wide siRNA screening identified 92 novel genes that support melanin production in human melanocytes with a low false discovery rate.
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The EPHA2 gene is associated with cataracts linked to chromosome 1p.
PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups
A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu
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Genome-wide analysis of the H3K4 histone demethylase RBP2 reveals a transcriptional program controlling differentiation.
PMID 18722178 · PMC3003864 · Molecular cell · 2008 · 7 claims · 8 setups
RBP2 target promoters separate into two functionally distinct classes: differentiation-independent genes (mitochondrial function, RNA/DNA metabolism) and differentiation-dependent genes (cell cycle)