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).

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

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

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  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

• Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

  PMID 17576681 · PMC1934990 · Nucleic acids research · 2007 · 8 claims · 4 setups

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  Cryptic 5'ss are best predicted by computational algorithms that accommodate nucleotide dependencies (e.g., Markov model, maximum entropy, maximum dependence decomposition) rather than by weight-matrix models

  disease mammalian compiled literature minigene computational

• New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

  PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

  genomic pcr polycystin-1 czech denaturing sanger family

• BCoR-L1 variation and breast cancer.

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

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

  genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr

• 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

• Multiple polymorphisms, but no mutations, in the WAF1/CIP1 gene in human brain tumours.

  PMID 7577473 · PMC2033923 · British journal of cancer · 1995 · 8 claims · 5 setups

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  No somatic mutations of WAF1/CIP1 were found in 158 primary human brain tumours

  reamplified same brain healthy sscp direct microsatellite

• Mutational inactivation of mitotic checkpoint genes, hsMAD2 and hBUB1, is rare in sporadic digestive tract cancers.

  PMID 10543255 · PMC5926140 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups

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  Mutation of the hsMAD2 gene was not observed in any of the 32 sporadic digestive tract cancers examined.

  sporadic same tumor hsmad2 rt-pcr-sscp dnase direct

• INI1 mutations in meningiomas at a potential hotspot in exon 9.

  PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups

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  A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.

  meningioma re-extracted sscp 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

• Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

  PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups

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  A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.

  genomic peripheral metaphase dhplc sequencing rt-pcr

• 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

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  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

• 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

• 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

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  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

• 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

• Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.

  PMID 18438408 · PMC2705838 · Nature genetics · 2008 · 8 claims · 8 setups

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  Massively parallel paired-end sequencing can characterize somatic and germline structural rearrangements to base-pair resolution across a whole cancer genome

  nci-h2171 nci-h1770 massively genomic rt-pcr

• Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

  PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2

  genomic peripheral setx sanger dosage long-range

• 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

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

  glioma pcr northern rt-pcr sscp

• Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.

  PMID 11437403 · PMC2363927 · British journal of cancer · 2001 · 7 claims · 4 setups

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  β-catenin and γ-catenin gene mutations are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas

  lung carcinoma lines pcr-sscp rt-pcr-sscp direct

• Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

  PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

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  RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

  peripheral patient-parent genomic crebbp karyotyping bac microsatellite

• 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

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  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