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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A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.
PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups
A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1
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No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin.
PMID 16095531 · PMC1199587 · BMC cancer · 2005 · 6 claims · 4 setups
TUBB exon 4 mutations are not found in primary ovarian carcinomas treated with paclitaxel/cisplatin
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Computer identification of snoRNA genes using a Mammalian Orthologous Intron Database.
PMID 16093549 · PMC1184218 · Nucleic acids research · 2005 · 8 claims · 5 setups
Created the Mammalian Orthologous Intron Database (MOID) containing orthologous introns of human, mouse and rat identified via conserved reading-frame position
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Functional analysis of human hematopoietic stem cell gene expression using zebrafish.
PMID 16089502 · PMC1166352 · PLoS biology · 2005 · 8 claims · 8 setups
277 unique transcripts are differentially expressed between Rho lo and Rho hi HSC-enriched/depleted populations, conserved across both umbilical cord blood and bone marrow
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High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.
PMID 16086836 · PMC1190179 · BMC medical genetics · 2005 · 8 claims · 6 setups
IVS2-2A>G allele frequency does not differ significantly between hearing-impaired cases and controls among Hispanics and Caucasians (p=0.45)
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Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.
PMID 16034026 · PMC1179734 · Nucleic acids research · 2005 · 8 claims · 6 setups
L1 insertions are directly responsible for genomic deletions (L1IMDs) confirmed in both human and chimpanzee genomes
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Genome annotation errors in pathway databases due to semantic ambiguity in partial EC numbers.
PMID 16034025 · PMC1179732 · Nucleic acids research · 2005 · 7 claims · 4 setups
Partial EC numbers are semantically ambiguous, and databases that assign a gene to all reactions sharing the same partial EC number make a faulty inference, causing systematic misannotation.
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Adapting to a changing world: RAG genomics and evolution.
PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups
RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.
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Structural organization and interactions of transmembrane domains in tetraspanin proteins.
PMID 15985154 · PMC1190194 · BMC structural biology · 2005 · 8 claims · 5 setups
TM1, TM2 and TM3 of human tetraspanins display a distinct heptad repeat motif (abcdefg)n, while TM4 lacks this motif.
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Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations.
PMID 15984912 · PMC1166350 · PLoS biology · 2005 · 8 claims · 6 setups
Most mtDNA lineages in Taiwanese aboriginal populations are distinct from those in China and the Taiwan Han population, consistent with descent from the island's initial late Pleistocene settlers
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A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups
The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)
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Overlapping gene mutations of hepatitis B virus in a chronic hepatitis B patient with hepatitis B surface antigen loss during lamivudine therapy.
PMID 15953865 · PMC2782199 · Journal of Korean medical science · 2005 · 7 claims · 5 setups
Serum HBsAg became negative after 36 months of lamivudine therapy while HBeAg and HBV DNA remained positive
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SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.
PMID 15927052 · PMC1156871 · BMC bioinformatics · 2005 · 8 claims · 6 setups
SeqDoC generates a subtracted difference trace between a reference and test chromatogram that highlights single base changes
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Comparative genomics of Helicobacter pylori isolates recovered from ulcer disease patients in England.
PMID 15916705 · PMC1180443 · BMC microbiology · 2005 · 8 claims · 8 setups
H. pylori strains from England are genetically distinct from strains obtained from other countries based on virulence gene analysis (cagT, cagE, cagA, vacA, iceA, oipA, babB)
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Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid.
PMID 15841082 · PMC2361763 · British journal of cancer · 2005 · 8 claims · 5 setups
Somatic missense GRIM-19 mutations occur in a subset of sporadic Hürthle cell carcinomas but not in non-Hürthle cell thyroid carcinomas or blood donors
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Filtering high-throughput protein-protein interaction data using a combination of genomic features.
PMID 15833142 · PMC1127019 · BMC bioinformatics · 2005 · 8 claims · 8 setups
A combination of three genomic features (interacting Pfam domains, GO annotations, sequence homology) using naive Bayesian networks predicts true protein-protein interactions with high sensitivity and good specificity.
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes.
PMID 15809229 · PMC1074396 · Nucleic acids research · 2005 · 8 claims · 6 setups
Comparative gene finding (SGP2) between human and chicken, followed by RT-PCR verification, adds at most ~0.2% new genes to the multi-exonic human gene catalog
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Transcription of the human and rodent SPAM1 / PH-20 genes initiates within an ancient endogenous retrovirus.
PMID 15804358 · PMC1079825 · BMC genomics · 2005 · 8 claims · 8 setups
Human, mouse, and rat SPAM1/Spam1 transcripts initiate within an ERV1 pol (internal coding) region rather than within an LTR
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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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Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.
PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups
Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase