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).

• BRCA1 mutations in southern England.

  PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups

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  Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone

  genomic pcr clinical heteroduplex sequencing pcr

• Mutational spectrum of p53 gene in arsenic-related skin cancers from the blackfoot disease endemic area of Taiwan.

  PMID 10362120 · PMC2363055 · British journal of cancer · 1999 · 7 claims · 4 setups

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  p53 gene mutation rate is high in arsenic-related skin cancers (39% Bowen's disease, 28.6% BCC, 55.6% SCC)

  skin fresh-frozen pcr-sscp direct immunohistochemistry

• 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

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  No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls

  genomic pcr genotype pcr-based direct pcr

• BRAF mutations in non-Hodgkin's lymphoma.

  PMID 14612909 · PMC2394455 · British journal of cancer · 2003 · 7 claims · 4 setups

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  BRAF is somatically mutated in a subset of NHLs (4/164, 2.4%)

  nhl reamplified haematoxylin-eosin-stained pcr-sscp sequencing microdissection

• Detecting DNA modifications from SMRT sequencing data by modeling sequence context dependence of polymerase kinetic.

  PMID 23516341 · PMC3597545 · PLoS computational biology · 2013 · 8 claims · 7 setups

  Has reproduction · 44

  Local sequence context strongly determines position-specific polymerase kinetic rate: roughly 80% of IPD variation is explained by a 10 bp context (7 bases upstream, 2 bases downstream of the incorporation site), saturating at 7 bases upstream.

  plasmid coli wild-type artificial smrt read-mixing distributional

• Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

  PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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  LQTS-associated mutations were identified in 8 of 112 families studied

  large lqts family mutation linkage direct single-strand

• Infrequent involvement of p53 gene mutations in the tumourigenesis of Japanese prostate cancer.

  PMID 7691145 · PMC1968625 · British journal of cancer · 1993 · 6 claims · 3 setups

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  p53 gene mutations are infrequent in the tumorigenesis of primary Japanese prostate cancer

  prostate pcr-sscp sequencing

• Mutation analysis of the WT1 gene in myelodysplastic syndromes.

  PMID 9765617 · PMC5921914 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 3 setups

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  WT1 mutations are uncommon overall in MDS

  bone pcr pcr-sscp subcloning direct

• Detection of p53 gene mutations in aspiration biopsy specimens from suspected breast cancers by polymerase chain reaction-single strand conformation polymorphism analysis.

  PMID 7730136 · PMC5920757 · Japanese journal of cancer research : Gann · 1995 · 4 claims · 4 setups

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  Detection of p53 gene mutation by PCR-SSCP in aspirated breast biopsy specimens is a helpful method for more accurate diagnosis of suspected breast cancer

  aspiration aspirated biopsy pcr-sscp flow p53

• p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.

  PMID 9514057 · PMC2149958 · British journal of cancer · 1998 · 8 claims · 6 setups

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  p53 mutations were found in 8 of 12 HCCs with cirrhosis due to viral hepatitis and in both patients with sarcomatoid change

  resected exon p53 hcc gc-clamped sscp restriction

• BRCA1 and BRCA2 mutations in central and southern Italian patients.

  PMID 11056688 · PMC13918 · Breast cancer research : BCR · 2000 · 8 claims · 4 setups

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  Deleterious germline BRCA1/BRCA2 mutations were detected in 11 of 136 (8%) unrelated Italian breast/ovarian cancer probands.

  genomic peripheral truncation single-strand direct

• Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

  PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups

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  Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations

  genomic pcr-amplified pcr truncation single-strand heteroduplex

• The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

  PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups

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  The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association

  peripheral clinical pcr-rflp single sequencing

• Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.

  PMID 10755399 · PMC2374482 · British journal of cancer · 2000 · 8 claims · 3 setups

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  Only 25% (8/32) of the Spanish breast/ovarian cancer families carried a BRCA1 or BRCA2 mutation

  genomic truncation single-strand direct

• Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.

  PMID 10772697 · PMC11166235 · Sao Paulo medical journal = Revista paulista de medicina · 2000 · 7 claims · 3 setups

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  Point mutations of the p53 gene (exons 5-9) were not detected in any of the 10 Wilms' tumor samples studied

  extracted pcr-amplified pcr pcr pcr-sscp automated

• 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

• Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.

  PMID 16542438 · PMC1526716 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations in the OAZ3 gene are not a common cause of male infertility

  genomic coding inferred oaz3 direct sscp haplotype

• Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

  PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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  Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

  genomic oa1 one gpr143 pcr heteroduplex junction-fragment

• Sequence variations of GRM6 in patients with high myopia.

  PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

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  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

  genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction

• PTEN / MMAC1 mutation and frequent loss of heterozygosity identified in chromosome 10q in a subset of hepatocellular carcinomas.

  PMID 10760687 · PMC5926370 · Japanese journal of cancer research : Gann · 2000 · 8 claims · 3 setups

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  A subset of HCC tumors show frequent allelic loss (LOH) on chromosome 10q, indicating putative tumor suppressor gene(s) on this arm.

  paired pcr loh sscp direct