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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Genomic sequencing of the severe acute respiratory syndrome-coronavirus.
PMID 16916263 · PMC7121524 · Methods in molecular biology (Clifton, N.J.) · 2006 · 7 claims · 7 setups
PCR-based amplification and direct sequencing of SARS-CoV genome fragments is feasible from uncultured clinical specimens (serum, nasopharyngeal aspirate, stool), avoiding culture-derived artifacts and biohazard risk.
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Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups
Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.
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Sequence variations of GRM6 in patients with high myopia.
PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups
Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls
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Identification of six new polymorphisms in the human coronavirus 229E receptor gene (aminopeptidase N/CD13).
PMID 15234325 · PMC7129141 · International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases · 2004 · 7 claims · 3 setups
Human aminopeptidase N (APN/CD13/ANPEP) is the receptor for human coronavirus 229E (HCoV-229E)
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A novel mutation in the SH3BP2 gene causes cherubism: case report.
PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups
A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.
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Evaluation of EGR1 as a candidate gene for high myopia.
PMID 18636116 · PMC2464612 · Molecular vision · 2008 · 6 claims · 1 setups
EGR1/ZENK is upregulated to inhibit axial eye growth (STOP signal) and downregulated during axial elongation in animal models of experimentally induced myopia
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Additional EFNB1 mutations in craniofrontonasal syndrome.
PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups
Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients
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Low density DNA microarray for detection of most frequent TP53 missense point mutations.
PMID 15713227 · PMC553977 · BMC biotechnology · 2005 · 7 claims · 6 setups
A double tandem hybridization microarray with 7-nt gap targets and 7-mer capture probes can search for 9 point mutations in TP53 codons 248, 249, and 273
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The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.
PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups
No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls
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A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
PMID 16351727 · PMC1327677 · BMC genomics · 2005 · 8 claims · 5 setups
A qPCR method using unique-sequence primers can reproducibly detect chromosomal microdeletions and microduplications
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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.
PMID 18523664 · PMC2408774 · Molecular vision · 2008 · 7 claims · 3 setups
Linkage analysis mapped the CN disease gene to Xp22.3, with the highest two-point LOD score at marker DXS7103
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
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Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups
Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing
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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups
The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541
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Large-scale analysis of mutations in RET exon 16 in sporadic medullary thyroid carcinomas in Japan.
PMID 11429053 · PMC5926749 · Japanese journal of cancer research : Gann · 2001 · 5 claims · 4 setups
RET exon 16 (codon 918) somatic mutations are rare in sporadic MTC among Japanese patients
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An oncogenomics-based in vivo RNAi screen identifies tumor suppressors in liver cancer.
PMID 19012953 · PMC2990916 · Cell · 2008 · 7 claims · 8 setups
shRNA pools targeting genes recurrently deleted in human HCC accelerate hepatocarcinogenesis in vivo, whereas randomly selected shRNA pools do not.
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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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The cell cycle and virus infection.
PMID 15576934 · PMC7120536 · Methods in molecular biology (Clifton, N.J.) · 2005 · 8 claims · 7 setups
Viruses interfere with the host cell cycle to increase efficiency of virus replication
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A new family of giardial cysteine-rich non-VSP protein genes and a novel cyst protein.
PMID 17183673 · PMC1762436 · PloS one · 2006 · 8 claims · 7 setups
HCNCp is a novel invariant (non-variant) cyst protein belonging to a new family of high-cysteine membrane proteins (HCMp) abundant in the Giardia genome