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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Stable patterns of gene expression regulating carbohydrate metabolism determined by geographic ancestry.
PMID 20016837 · PMC2790609 · PloS one · 2009 · 8 claims · 6 setups
151 'geo-ancestral genes' were identified that are both differentially expressed between AA and CAU subjects and contain SNPs distinguishing YRI (African) from CEU (European) HapMap populations
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A small-cell lung cancer genome with complex signatures of tobacco exposure.
PMID 20016488 · PMC2880489 · Nature · 2010 · 8 claims · 7 setups
22,910 somatic substitutions, including 132 in coding exons, were identified genome-wide in the NCI-H209 SCLC genome.
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Proteomics identifies multipotent and low oncogenic risk stem cells of the spleen.
PMID 20005973 · PMC2891339 · The international journal of biochemistry & cell biology · 2010 · 8 claims · 5 setups
CD45- splenic stem cell-specific proteins are identical to core iPS/ES markers OCT3/4, SOX2, KLF4, c-MYC and NANOG.
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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.
PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups
CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease
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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups
PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer
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Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups
The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17
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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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Multilocus sequence typing of Cronobacter sakazakii and Cronobacter malonaticus reveals stable clonal structures with clinical significance which do not correlate with biotypes.
PMID 19852808 · PMC2770063 · BMC microbiology · 2009 · 8 claims · 6 setups
A seven-locus MLST scheme (atpD, fusA, glnS, gltB, gyrB, infB, pps) reliably identifies and discriminates C. sakazakii and C. malonaticus strains
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Point mutations in GLI3 lead to misregulation of its subcellular localization.
PMID 19829694 · PMC2758996 · PloS one · 2009 · 6 claims · 8 setups
The MID1-α4-PP2A complex regulates the subcellular localization and transcriptional activity of GLI3.
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Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups
Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls
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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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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups
Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2
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Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups
A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination
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Identification of novel gene amplifications in breast cancer and coexistence of gene amplification with an activating mutation of PIK3CA.
PMID 19706770 · PMC2745517 · Cancer research · 2009 · 8 claims · 8 setups
Genome-wide DNA copy number analysis of 161 primary breast tumors identified six novel focally amplified genes: POLD3, IRAK4, IRX2, TBL1XR1, ASPH, and BRD4
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Protocadherin PCDH10, involved in tumor progression, is a frequent and early target of promoter hypermethylation in cervical cancer.
PMID 19681120 · PMC3430375 · Genes, chromosomes & cancer · 2009 · 8 claims · 5 setups
PCDH10 promoter hypermethylation is a frequent event in invasive cervical cancer
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X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups
A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.
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Different molecular patterns in glioblastoma multiforme subtypes upon recurrence.
PMID 19644652 · PMC2811648 · Journal of neuro-oncology · 2010 · 7 claims · 5 setups
Type 1 GBM (p53 mutation, no EGFR amplification) and type 2 GBM (EGFR amplification, no p53 mutation) conserve their original molecular pattern at relapse.
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PIK3CA alterations in Middle Eastern ovarian cancers.
PMID 19638206 · PMC2724395 · Molecular cancer · 2009 · 8 claims · 7 setups
PIK3CA gene amplification is frequent in Middle Eastern EOC, found in 54/152 (35.5%) cases
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MASTR-seq enables multiplexed analysis of short tandem repeats with sequencing.
PMID 41850290 · PMC13030959 · Cell reports methods · 2026 · 8 claims · 5 setups
MASTR-seq couples Cas9-mediated target enrichment, fragment size selection, and PCR-free multiplexed barcoding to increase on-target read proportion and enable pooling of 8-12 samples per Nanopore MinION flow cell
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Sex genes for genomic analysis in human brain: internal controls for comparison of probe level data extraction.
PMID 12962547 · PMC212256 · BMC bioinformatics · 2003 · 8 claims · 3 setups
RMA-generated gene expression values are markedly less variable and more reliable than MAS5.0- and MBEI-derived values