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).

• Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases.

  PMID 15935100 · PMC1164406 · BMC cancer · 2005 · 8 claims · 4 setups

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  B-raf exon 15 somatic mutations occur in 24/60 (40%) of cutaneous/subcutaneous melanoma metastases, similar to the frequency in primary melanomas

  paraffin-embedded cloned same predicted pcr cloning blastx

• 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

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  RET exon 16 (codon 918) somatic mutations are rare in sporadic MTC among Japanese patients

  paraffin-embedded genomic direct pcr-rflp nested

• No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin.

  PMID 16095531 · PMC1199587 · BMC cancer · 2005 · 6 claims · 4 setups

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  TUBB exon 4 mutations are not found in primary ovarian carcinomas treated with paclitaxel/cisplatin

  ovarian same pcr agarose microsatellite

• Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

  PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups

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  Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)

  hypertensive lymphocytes βenac xenopus targeted pcr-rflp plasma

• Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

  PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups

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  Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded

  genomic predicted archival mutation targeted functional

• Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).

  PMID 18846391 · PMC3155267 · Pediatric nephrology (Berlin, Germany) · 2009 · 8 claims · 5 setups

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  No UMOD mutations were identified in 96 patients with CAKUT after full mutation screening

  genomic pcr cakut direct cel sequencing

• Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.

  PMID 9099970 · PMC2222784 · British journal of cancer · 1997 · 6 claims · 6 setups

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  No germline TP53 mutations (exons 5-8) were found in 128 breast cancer patients from 109 families with familial cancer.

  genomic tumour paired constant restriction sequencing

• Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.

  PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups

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  Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.

  cos-1 cos-7 tau10-1 rt-pcr quantitative rna-fish

• Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

  PMID 16597330 · PMC1456953 · BMC medical genetics · 2006 · 8 claims · 5 setups

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  Three novel RP1 truncating mutations (Gln686Ter, Lys705fsX712, Lys722fsX737) cause adRP

  genomic adrp denaturing direct restriction

• Mutation analysis of the AATF gene in breast cancer families.

  PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups

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  No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk

  genomic showing aatf case conformation direct pathogenicity

• The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

  PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups

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  ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk

  germline breast denaturing sanger case-control

• TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.

  PMID 8761369 · PMC2074687 · British journal of cancer · 1996 · 8 claims · 8 setups

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  CDGE can be used to successfully detect TP53 mutations (exons 5-8) in DNA extracted from archival paraffin-embedded breast carcinoma tissue

  archival pcr breast tumour pcr-cdge direct restriction

• Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

  PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups

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  E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)

  genomic extracted cdna patients pcr rt-pcr restriction

• Mutation analysis of the ATR gene in breast and ovarian cancer families.

  PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups

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  ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene

  index atr variant mutation direct variant

• A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

  PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups

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  The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.

  propositus relatives serologic allele-specific haplotype-specific

• Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

  PMID 18818683 · PMC2756756 · Kidney international · 2008 · 8 claims · 8 setups

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  Developed an MLPA assay with PKD1 exon 1-33 probes designed at single base-pair mismatches with the six PKD1 pseudogenes to achieve locus specificity

  blood-derived blood crisp father mlpa long-range field

• 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

• Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.

  PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups

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  Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.

  sporadic msi-positive tumour unstable microsatellite denaturing sequencing

• High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays.

  PMID 11714443 · PMC5926665 · Japanese journal of cancer research : Gann · 2001 · 7 claims · 5 setups

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  A high proportion (12/15, 80%) of gamma-ray-induced HPRT-deficient mutants in A-T (GM2783) cells are deletions

  gm2783 mutant multiplex pcr long

• Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

  PMID 16277682 · PMC1297578 · Arthritis research & therapy · 2005 · 6 claims · 4 setups

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  The M404V mutation in p62/SQSTM1 exon 8 segregates with the polyostotic form of PDB in the F01 Italian family

  genomic serum affected pcr pcr biochemical clinical