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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Defective DNA repair and increased genomic instability in Artemis-deficient murine cells.
PMID 12615897 · PMC2193825 · The Journal of experimental medicine · 2003 · 8 claims · 8 setups
Artemis-deficient ES cells are severely impaired in VDJ coding joining but retain relatively normal RS (signal) joining
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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
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
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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
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
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Systematic Analysis of Long Non-Coding RNA Genes in Nonalcoholic Fatty Liver Disease.
PMID 35893239 · PMC9332188 · Non-coding RNA · 2022 · 6 claims · 5 setups
Many lncRNAs, like protein-coding genes, are differentially expressed in NAFLD patients compared to healthy normal-weight and obese individuals.
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Mitotic checkpoint protein hsMAD2 as a marker predicting liver metastasis of human gastric cancers.
PMID 11572763 · PMC5926839 · Japanese journal of cancer research : Gann · 2001 · 8 claims · 4 setups
No mutations were found in the coding sequence of the hsMAD2 gene in 32 primary gastric cancers
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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
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.
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Empirical codon substitution matrix.
PMID 15927081 · PMC1173088 · BMC bioinformatics · 2005 · 8 claims · 5 setups
The authors present the first empirical codon substitution matrix built entirely from alignments of vertebrate coding DNA sequences.
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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays.
PMID 15722479 · PMC549431 · Nucleic acids research · 2005 · 7 claims · 4 setups
Two base deletion probes display the highest average hybridization specificity, followed by single base substitution, single base deletion, and single base insertion probes.
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GeneAlign: a coding exon prediction tool based on phylogenetical comparisons.
PMID 16845010 · PMC1538901 · Nucleic acids research · 2006 · 8 claims · 5 setups
GeneAlign predicts coding exons by using signal detection (GeneSplicer/WMM) combined with CORAL, a heuristic linear-time alignment tool, to align candidate signal-flanked regions against annotated exons of a homologous organism's genes
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The secrets of a functional synapse--from a computational and experimental viewpoint.
PMID 16723009 · PMC1810317 · BMC bioinformatics · 2006 · 8 claims · 8 setups
Kinesin motor proteins move cargo along axonal microtubules to the synapse, with cargo specificity determined by adaptor/linker proteins rather than lipid recognition
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Large-scale trends in the evolution of gene structures within 11 animal genomes.
PMID 16518452 · PMC1386723 · PLoS computational biology · 2006 · 8 claims · 5 setups
Change in intron–exon gene structure is gradual, clock-like, and largely independent of coding-sequence (protein) evolution
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Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups
OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.
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Cataloging coding sequence variations in human genome databases.
PMID 18974781 · PMC2570488 · PloS one · 2008 · 8 claims · 7 setups
A significant proportion of CVs overlap between HGMD and dbSNP (4.36% of HGMD CVs registered in dbSNP; 8.11% of dbSNP CVs registered in HGMD), warranting caution when interpreting phenotypic relevance of concurrent CVs.
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Worldwide distribution of NAT2 diversity: implications for NAT2 evolutionary history.
PMID 18304320 · PMC2292740 · BMC genetics · 2008 · 8 claims · 8 setups
NAT2 coding region sequence variation in the Mandenka and other sub-Saharan African populations is consistent with selective neutrality and constant population size.
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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes.
PMID 19924287 · PMC2773936 · PloS one · 2009 · 8 claims · 8 setups
Human TLR genes are unequally polymorphic: TLR2, 4, 7, 8 and 9 are comparatively least diverse, whereas TLR1, 5, 6 and 10 show substantial allelic diversity.
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia
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Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.
PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups
No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed
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Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups
No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes