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).

• Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

  PMID 41685349 · PMC12891912 · NAR genomics and bioinformatics · 2026 · 7 claims · 7 setups

  Has reproduction

  An integrated RNA-guided variant interpretation workflow combining OUTRIDER, FRASER, MOLGENIS VIP, and Borzoi enhances clinical variant interpretation and reclassification of VUS in rare disease cases.

  udn blood skin snvs whole-genome bulk splice-altering

• Advanced colorectal polyps with the molecular and morphological features of serrated polyps and adenomas: concept of a 'fusion' pathway to colorectal cancer.

  PMID 16879389 · PMC1619718 · Histopathology · 2006 · 8 claims · 5 setups

  Full-text index only

  KRAS mutation occurs more frequently than BRAF mutation in conventional adenomas, especially those with villous architecture

  archival adenomas colorectal kras braf p53

• Extensive tissue-specific expression variation and novel regulators underlying circadian behavior.

  PMID 33514540 · PMC7846174 · Science advances · 2021 · 8 claims · 8 setups

  Has reproduction · 63

  More than 1700 mostly tissue-specific cycling genes are detected across four Drosophila tissues, substantially expanding the catalog of clock-controlled genes

  melanogaster dgrp drosophila genes bulk locomotor gene

• BCoR-L1 variation and breast cancer.

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

  Full-text index only

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

  genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr

• p53 mutations in cervical carcinogenesis--low frequency and lack of correlation with human papillomavirus status.

  PMID 8142262 · PMC1968818 · British journal of cancer · 1994 · 7 claims · 6 setups

  Full-text index only

  Somatic mutation in the p53 gene hotspot regions occurs infrequently in cervical carcinomas

  cervical tumour paired hpv-positive immunocytochemistry pcr sequencing

• Biased exon/intron distribution of cryptic and de novo 3' splice sites.

  PMID 16141195 · PMC1197134 · Nucleic acids research · 2005 · 7 claims · 5 setups

  Full-text index only

  Cryptic 3'ss (from 3'YAG consensus mutations) are significantly more frequent in exons than in introns

  disease authentic hek293t nuclear literature shapiro-senapathy splicing

• Frequent p53 gene mutations in soft tissue sarcomas arising in burn scar.

  PMID 10359041 · PMC5926059 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups

  Full-text index only

  p53 gene mutations occur at a high frequency in soft tissue sarcomas arising in burn scars

  paraffin-embedded mutated sporadic pcr-sscp direct immunohistochemistry

• Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

  PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups

  Full-text index only

  Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription

  gej paired showing tumours tcf pcr-sscp bidirectional

• Tissue microarrays characterise the clinical significance of a VEGF-A protein expression signature in gastrointestinal stromal tumours.

  PMID 17299397 · PMC2360083 · British journal of cancer · 2007 · 8 claims · 5 setups

  Full-text index only

  A combined VEGF-A ligand and flt-1 receptor protein expression signature discriminates malignant from benign GIST

  archival tma genomic pcr immunohistochemistry unsupervised pcr-dhplc

• 93rd Annual Meeting of the American Association for Cancer Research, San Francisco, CA, USA, 6-10 April 2002.

  PMID 12100742 · PMC138737 · Breast cancer research : BCR · 2002 · 8 claims · 8 setups

  Full-text index only

  Serial analysis of gene expression identifies genes preferentially expressed in ductal carcinoma in situ

  breast laser serum bladder cdna western seldi-tof

• Alterations of E-cadherin and beta-catenin in gastric cancer.

  PMID 11747475 · PMC60969 · BMC cancer · 2001 · 8 claims · 5 setups

  Full-text index only

  High frequency (75%) of loss of heterozygosity (LOH) at 16q22.1, the E-cadherin locus, occurs in primary gastric tumours

  gastric normal paraffin-embedded loh mutation a592t

• In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

  PMID 17726045 · PMC2094079 · Nucleic acids research · 2007 · 8 claims · 6 setups

  Full-text index only

  Two exonic mutations, PINK1 E417G and PARK7 E64D, disrupt binding to U1 snRNA and cause skipping of the mutation-harboring exon

  hek293 genome lymphocytes minigene artificial genome-wide

• Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

  PMID 18397877 · PMC2427143 · Human molecular genetics · 2008 · 8 claims · 8 setups

  Full-text index only

  All six somatic TSC1 missense mutations found in bladder tumours cause loss of TSC1 function, but via distinct molecular mechanisms.

  hcv29 lines tsc1 bladder immunoblotting real-time co-immunoprecipitation

• Rare-type mutations of MMAC1 tumor suppressor gene in human glioma cell lines and their tumors of origin.

  PMID 10551321 · PMC5926156 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 6 setups

  Full-text index only

  6 of 10 glioma cell lines examined showed MMAC1 mutations with presumed loss of heterozygosity (LOH)

  glioma pcr northern rt-pcr sscp

• Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

  PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups

  Full-text index only

  A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP

  peripheral genomic cdna truncation sscp d-hplc

• Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

  PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

  Full-text index only

  GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

  palestinian genomic probands lymphoblasts targeted sanger pcr

• Mutation analysis in primary immunodeficiency diseases: case studies.

  PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups

  Full-text index only

  Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results

  mother parents ebv-transformed nemo genomic flow northern

• Proteomic profiling of urine identifies specific fragments of SERPINA1 and albumin as biomarkers of preeclampsia.

  PMID 18984079 · PMC2679897 · American journal of obstetrics and gynecology · 2008 · 8 claims · 7 setups

  Full-text index only

  Women with severe preeclampsia present a unique urinary proteomic fingerprint distinguishable from controls.

  urine placenta placental seldi-tof tandem spiking