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).

• Somatic mutations of KIT in familial testicular germ cell tumours.

  PMID 15150569 · PMC2410291 · British journal of cancer · 2004 · 6 claims · 3 setups

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  No germline KIT mutations were found in constitutional DNA from 240 familial TGCT pedigrees

  blood ffpe familial csge direct contingency

• PAX6 gene variations associated with aniridia in south India.

  PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

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  Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

  genomic pcr aniridia sscp automated allele-specific

• 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

• 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

• 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

• 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

• Mutational analysis of BRCA1 gene in ovarian and breast-ovarian cancer families in Japan.

  PMID 9197534 · PMC5921420 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 2 setups

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  Germline BRCA1 mutations were detected in 7 of 19 Japanese cancer families (4 breast-ovarian, 3 site-specific ovarian)

  genomic tumor single-strand loss

• Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.

  PMID 16389418 · PMC11060407 · Sao Paulo medical journal = Revista paulista de medicina · 2005 · 8 claims · 2 setups

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  BRCA1 or BRCA2 mutations were detected in 4 of 31 (13%) Brazilian breast cancer patients with positive family history

  genomic single-strand direct

• Infrequent mutation of the H-cadherin gene on chromosome 16q24 in human breast cancers.

  PMID 9330599 · PMC5921496 · Japanese journal of cancer research : Gann · 1997 · 4 claims · 2 setups

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  Mutation of the H-cadherin gene is very infrequent in primary breast cancers with 16q loss

  pcr-single sequencing

• B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.

  PMID 17311103 · PMC1794595 · PloS one · 2007 · 5 claims · 4 setups

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  B-RAF and N-RAS mutation status is well preserved (strongly concordant) between tumor tissue biopsies and corresponding short-term in vitro propagated cell lines.

  tumor biopsy-derived metastatic pcr direct survival

• 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

• 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

• 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

• 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

• p53 mutations, protein expression and cell proliferation in squamous cell carcinomas of the head and neck.

  PMID 7710950 · PMC2033757 · British journal of cancer · 1995 · 6 claims · 4 setups

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  There is a discrepancy between p53 immunoreactivity and p53 gene mutation status, with mutations found in similar proportions of immunopositive and immunonegative tumours.

  formalin-fixed extracted p53-immunonegative scchn immunohistochemistry pcr-single sequencing

• 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

• BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

  PMID 18704680 · PMC2775077 · Breast cancer research and treatment · 2009 · 8 claims · 8 setups

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  The Breast Cancer Family Registry is an open resource for collaborative interdisciplinary and translational studies of the genetic epidemiology of breast cancer.

  breast california ashkenazi full two-dimensional denaturing

• Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

  PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups

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  Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.

  genomic affected patients linkage direct snp

• Discrimination of double primary lung cancer from intrapulmonary metastasis by p53 gene mutation.

  PMID 10188905 · PMC2362717 · British journal of cancer · 1999 · 7 claims · 3 setups

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  p53 mutation patterns can be used as a clonal marker to discriminate double primary lung cancer from intrapulmonary metastasis in synchronous double lung tumours.

  paraffin-embedded pcr lung pcr-single-strand sequencing extraction