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).

• Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

  PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups

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  A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.

  genomic peripheral metaphase dhplc sequencing rt-pcr

• Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.

  PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups

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  Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.

  taiwanese bpd bess arms multiplex

• Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties.

  PMID 15804357 · PMC1129089 · BMC genomics · 2005 · 8 claims · 6 setups

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  MagT1 is a novel mammalian Mg2+ transporter with channel-like properties, showing no amino acid sequence identity to other known transporters

  kidney mdct tissues xenopus oligonucleotide northern real-time

• Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS.

  PMID 15731331 · PMC549577 · Nucleic acids research · 2005 · 8 claims · 7 setups

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  Multiplexed base-specific cleavage/MALDI-TOF MS (Multiplexed Comparative Sequence Analysis) enables simultaneous discovery of sequence polymorphisms across multiple target regions

  ensembl genomic simulation pcr maldi-tof

• Analysis of the human Alu Ye lineage.

  PMID 15725352 · PMC554112 · BMC evolutionary biology · 2005 · 8 claims · 6 setups

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  Two new Alu subfamilies, Ye4 and Ye6, were discovered, complementing the previously described Ye5 subfamily.

  draft genomic non-human geographically blast sequence pcr

• Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

  PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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  21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

  genomic pcr proband restriction sscp automated

• Novel heteroduplex method using small cytology specimens with a remarkably high success rate for analysing EGFR gene mutations with a significant correlation to gefitinib efficacy in non-small-cell lung cancer.

  PMID 17047654 · PMC2360725 · British journal of cancer · 2006 · 7 claims · 5 setups

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  LH-MSA enables EGFR mutation analysis using small numbers of cancer cells from cytology specimens with a remarkably high success rate

  cytology excised nsclc gefitinib-treated lh-mobility pcr clinical

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr

• Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.

  PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups

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  pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC

  coli brca1 colony bth102 bacterial mutagenic heterozygosity

• nm23-H1 protein expression and gene mutation in 150 patients with non-Hodgkin's lymphomas.

  PMID 16891807 · PMC2729885 · Journal of Korean medical science · 2006 · 8 claims · 4 setups

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  High nm23-H1 protein expression is associated with high IPI score in non-Hodgkin's lymphomas

  non-hodgkin's immunohistochemistry pcr-sscp sequencing

• Four genomic islands that mark post-1995 pandemic Vibrio parahaemolyticus isolates.

  PMID 16672049 · PMC1464126 · BMC genomics · 2006 · 8 claims · 7 setups

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  Seven genomic islands (VPaI-1 to VPaI-7, 10-81 kb) were identified in V. parahaemolyticus RIMD2210633 by aberrant GC content, presence of integrases/transposases, flanking direct repeats, and absence from related Vibrionaceae genomes.

  parahaemolyticus vulnificus clinical ecori-digested bioinformatic comparative pcr

• Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.

  PMID 16545110 · PMC1475604 · BMC cancer · 2006 · 8 claims · 4 setups

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  Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations

  formalin-fixed ffpe paired study direct pcr restriction

• Identification and evolutionary analysis of novel exons and alternative splicing events using cross-species EST-to-genome comparisons in human, mouse and rat.

  PMID 16536879 · PMC1479377 · BMC bioinformatics · 2006 · 8 claims · 6 setups

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  ENACE, a cross-species EST-to-genome comparison algorithm, can identify novel cassette-on exons and retained introns for EST-scanty species and distinguish conserved vs lineage-specific exons

  presumably orthologous enace genes cross-species rt-pcr-sequencing nonsynonymous-to-synonymous

• Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

  PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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  Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

  peripheral genomic ebv-transformed conformation pira-pcr rt-pcr

• Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

  PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups

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  Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels

  renal dhplc direct pcr-restriction

• Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

  PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups

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  Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.

  spanish rp5 population candidate direct comparative pcr

• Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.

  PMID 18036257 · PMC2222243 · BMC medical genetics · 2007 · 8 claims · 5 setups

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  Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)

  genomic sequenced korean common sanger sequence population

• High-precision mapping of protein protein interfaces: an integrated genetic strategy combining en masse mutagenesis and DNA-level parallel analysis on a yeast two-hybrid platform.

  PMID 17702760 · PMC2018616 · Nucleic acids research · 2007 · 7 claims · 4 setups

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  An integrated strategy combining en masse pentapeptide insertion mutagenesis, yeast two-hybrid screening, and parallel genetic footprinting can map protein-protein interfaces at amino acid precision and is generally applicable to any interacting protein pair.

  saccharomyces plasmid pooled individual yeast pcr-based restriction

• BCoR-L1 variation and breast cancer.

  PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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  BCoR-L1 expression does not play a large role in predisposition to familial breast cancer

  genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr

• A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.

  PMID 17686168 · PMC1995191 · BMC medical genetics · 2007 · 7 claims · 5 setups

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  A novel mutation c.49C>T (p.Pro17Ser) in exon 1 of DSPP causes type II DGI in this Chinese family.

  family genomic affected linkage direct pcr