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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Recombinant vaccine-derived poliovirus in Madagascar.
PMID 12899139 · PMC3023450 · Emerging infectious diseases · 2003 · 7 claims · 4 setups
Five acute flaccid paralysis cases in southern Madagascar were associated with vaccine-derived poliovirus (VDPV) type 2 isolates
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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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Microarray-based DNA methylation profiling: technology and applications.
PMID 16428248 · PMC1345696 · Nucleic acids research · 2006 · 7 claims · 6 setups
A microarray-based method enriching unmethylated and methylated DNA fractions via methylation-sensitive restriction enzymes followed by hybridization enables high-throughput DNA methylation profiling of large genomic regions.
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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.
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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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The DNA sequence of the human X chromosome.
PMID 15772651 · PMC2665286 · Nature · 2005 · 8 claims · 8 setups
The euchromatic sequence of the human X chromosome was determined to 99.3% completeness (~155 Mb total)
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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
PMID 18978954 · PMC2576480 · Molecular vision · 2008 · 8 claims · 6 setups
A C>A transversion in exon 2 of CERKL (c.316C>A) causes a missense change p.R106S in the nuclear localization signal sequence (KLKRR) of the protein.
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High-density SNP genotyping to define beta-globin locus haplotypes.
PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups
RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus
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A novel role for mitochondria in regulating epigenetic modification in the nucleus.
PMID 18458531 · PMC2639623 · Cancer biology & therapy · 2008 · 8 claims · 6 setups
Mitochondria regulate epigenetic (DNA methylation) modification in the nucleus
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Mutation analysis of the MDM4 gene in German breast cancer patients.
PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups
Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients
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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups
MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments
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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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Array-based profiling of reference-independent methylation status (aPRIMES) identifies frequent promoter methylation and consecutive downregulation of ZIC2 in pediatric medulloblastoma.
PMID 17344319 · PMC1874664 · Nucleic acids research · 2007 · 7 claims · 7 setups
aPRIMES is a novel array-based method that detects direct (absolute) methylation status of CGIs via competitive hybridization of McrBC-digested (methylated) versus HpaII/BstUI-digested (unmethylated) DNA from the same genome, avoiding reference-tissue and copy-number biases
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.
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Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
PMID 18226259 · PMC2268926 · BMC genomics · 2008 · 8 claims · 7 setups
GOLGA8E and WHDC1L1 are characterized for the first time as protein-coding transcripts from the PWS proximal breakpoint region.
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Assisted large fragment insertion by Red/ET-recombination (ALFIRE)--an alternative and enhanced method for large fragment recombineering.
PMID 17517785 · PMC1904275 · Nucleic acids research · 2007 · 6 claims · 7 setups
ALFIRE allows insertion of any fragment into small or large episomes without requiring an antibiotic selection gene in the final construct
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Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia.
PMID 19835597 · PMC2770485 · Molecular cancer · 2009 · 8 claims · 8 setups
MLL-mutant (MLL mu) AML cell lines show significantly lower TSG promoter methylation than MLL wild-type (MLL wt) AML cell lines
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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
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Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers.
PMID 10027311 · PMC2362423 · British journal of cancer · 1999 · 6 claims · 5 setups
Abnormal (aberrant) TSG101 transcripts are common in both cancerous and non-cancerous cervical/endometrial tissue as well as in normal peripheral mononuclear cells