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).

• Alteration of the p53 tumor suppressor gene occurs independently of K-ras activation and more frequently in serous adenocarcinomas than in other common epithelial tumors of the human ovary.

  PMID 7852189 · PMC5919385 · Japanese journal of cancer research : Gann · 1994 · 7 claims · 4 setups

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  p53 gene mutations occur more frequently in serous adenocarcinomas than in other common epithelial ovarian tumors combined

  common ovarian restriction sscp direct

• 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

• The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.

  PMID 17615072 · PMC2206364 · Arthritis research & therapy · 2007 · 8 claims · 2 setups

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  The ITGAV rs3738919-C allele is significantly associated with rheumatoid arthritis in European Caucasian trio families

  genomic same pcr-restriction affected

• Leber's hereditary optic neuropathy--case report and literature review.

  PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups

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  Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON

  peripheral left optic visual pcr muscle visual

• The CYP2J2 G-50T polymorphism and myocardial infarction in patients with cardiovascular risk profile.

  PMID 19105833 · PMC2626571 · BMC cardiovascular disorders · 2008 · 7 claims · 4 setups

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  T-allele carriers of the CYP2J2 G-50T polymorphism had significantly more myocardial infarctions than G/G carriers in univariate analysis (21.6% vs 13.7%, p=0.026)

  whole-blood patients pooled genotyping clinical multivariate

• The vaginal bacterial communities of Japanese women resemble those of women in other racial groups.

  PMID 19912342 · PMC2868947 · FEMS immunology and medical microbiology · 2010 · 7 claims · 5 setups

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  The types of vaginal bacterial communities found in Japanese women closely resemble those previously found in White and Black North American women.

  vaginal japanese t-rflp clone cluster

• 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

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  ALFIRE allows insertion of any fragment into small or large episomes without requiring an antibiotic selection gene in the final construct

  coli psc101badγβαa[hygro] psc101badγβαa-i-scei[amp] i-scei-cs-hmlhcgr-bac bacterial restriction pcr

• 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

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  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

  blood pkd1 pcr-purified genomic long nested-pcr mrf-sscp

• Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.

  PMID 7577469 · PMC2033918 · British journal of cancer · 1995 · 6 claims · 4 setups

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  No p53 mutations were found in the hotspot region (exons 4-8) of 25 phaeochromocytomas by PCR-SSCP and sequencing

  phaeochromocytoma pcr-amplified formalin-fixed single pcr-sscp restriction immunohistochemistry

• 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

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  Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing

  genomic anonymized dried pcr-restriction direct molecular

• A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

  PMID 17615540 · PMC2768755 · Molecular vision · 2007 · 8 claims · 4 setups

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  A novel heterozygous C260T substitution in GJA3, causing a Thr87Met (T87M) change, is associated with a distinct 'pearl box' cataract phenotype in family CC-472.

  genomic patients connexin bidirectional restriction clinical

• Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

  PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups

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  Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.

  genomic unrelated bmp4 sanger restriction heteroduplex-single

• Recombinant vaccine-derived poliovirus in Madagascar.

  PMID 12899139 · PMC3023450 · Emerging infectious diseases · 2003 · 7 claims · 4 setups

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  Five acute flaccid paralysis cases in southern Madagascar were associated with vaccine-derived poliovirus (VDPV) type 2 isolates

  poliovirus genbank rflp partial sequence

• p53 mutations occur in clinical, but not latent, human prostate carcinoma.

  PMID 7737911 · PMC5920585 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 4 setups

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  p53 point mutations occur in clinical prostate cancer but not in latent (subclinical) prostate carcinoma

  prostate sscp rflp direct

• A high throughput method for genome-wide analysis of retroviral integration.

  PMID 17028098 · PMC1636494 · Nucleic acids research · 2006 · 8 claims · 8 setups

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  VITA uses MmeI to cleave DNA at a fixed distance from its recognition site, generating 21-22 bp genomic tags that serve as signatures of lentiviral integration sites.

  hela ht3 genome chromosomes isf vita sanger

• 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

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  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.

  genomic pcr-amplified computational pcr restriction pcr-rflp

• Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.

  PMID 17456229 · PMC1868706 · BMC medical genetics · 2007 · 7 claims · 4 setups

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  No mutations were identified in the VEGFR2 gene (exons 7, 18, 21, 27, promoter, or 5' UTR) in ALS patients

  genomic pcr als direct restriction allele

• Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

  PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups

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  Mutations in USH2A are responsible for most cases of USH2

  genomic family probands ush2a direct restriction single

• A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

  PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups

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  A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.

  genomic excised left pcr pcr-restriction histopathology

• Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

  PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups

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  A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family

  genomic basotho pcr restriction secondary