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).

• Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.

  PMID 17534430 · PMC1868958 · PloS one · 2007 · 8 claims · 6 setups

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  Microsatellite D17S798 in the 17q11.2 region shows significant association with MS

  nuclear accn1 genetic genotype microsatellite direct snp

• Detection of genetic association and a functional polymorphism of dynamin 1 gene with nicotine dependence in European and African Americans.

  PMID 18987626 · PMC2656577 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 8 claims · 5 setups

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  DNM1 SNP rs3003609 is significantly associated with Smoking Quantity (SQ) and Heaviness of Smoking Index (HSI) in the European-American (EA) sample, surviving correction for multiple testing.

  nuclear same sh-sy5y snp haplotype-based quantitative

• Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

  PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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  SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

  affected short pcr perchlorate

• 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

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  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

• A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

  PMID 17222328 · PMC1784097 · BMC cancer · 2007 · 7 claims · 8 setups

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  A workflow combining Alohomora, Mega2, MENDEL, SNPLINK and SimWalk2 enables linkage analysis with high-density SNP arrays in large pedigrees (>35-40 bits) that exceed the capacity of single existing programs

  peripheral pedigree nuclear family snp two-point multipoint

• Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression.

  PMID 8956789 · PMC2077203 · British journal of cancer · 1996 · 8 claims · 4 setups

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  GSTM1, GSTT1 and CYP2D6 genotype/allele frequencies did not differ significantly between 84 ovarian cancer cases and 325 controls, showing no association with disease susceptibility.

  leucocyte paraffin-embedded tumour pcr-amplified pcr-based immunohistochemistry single-strand

• Continued colonization of the human genome by mitochondrial DNA.

  PMID 15361937 · PMC515365 · PLoS biology · 2004 · 7 claims · 6 setups

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  NUMT insertion into nuclear chromosomes is an ongoing process shaped by double-strand-break repair (as shown in yeast) and continuing in humans.

  homo genomic chimpanzee genome genome-wide pcr sanger

• Elderly Japanese women with cervical carcinoma show higher proportions of both intermediate-risk human papillomavirus types and p53 mutations.

  PMID 10098748 · PMC2362249 · British journal of cancer · 1999 · 8 claims · 3 setups

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  HPV DNA was detected in 44 of 46 (96%) cervical carcinomas from elderly women

  cervical paraffin-embedded pcr-based pcr-single-strand immunohistochemistry

• Genetic variation in PARL influences mitochondrial content.

  PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups

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  PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis

  genomic nuclear parl pcr snp real-time

• Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

  PMID 19844255 · PMC2824775 · European journal of human genetics : EJHG · 2010 · 7 claims · 7 setups

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  A locus on chromosome 16q23-24 affects HDL-C levels in two independent French-Canadian family studies (QUE and SLSJ)

  que slsj candidate skin genome-wide sanger tagging

• Base editing in human cells with monomeric DddA-TALE fusion deaminases.

  PMID 35821233 · PMC9276701 · Nature communications · 2022 · 8 claims · 8 setups

  Has reproduction · 95

  mDdCBEs built from non-toxic full-length DddA_tox variants enable mitochondrial DNA base editing with efficiencies of up to 50% upon transient expression in human cells

  hek293t nih3t3 targeted clonal aav2

• Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge.

  PMID 18631403 · PMC2500032 · BMC bioinformatics · 2008 · 6 claims · 5 setups

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  Function2Gene is a set of Perl programs that queries public databases (NCBI, GeneCards, Harvester, with Uniprot/Ensembl also supported) using expert-selected keywords to rank genes by prior probability of disease association.

  gene nuclear sle tdt keyword-based snp transmission

• Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

  PMID 17267408 · PMC1865061 · Nucleic acids research · 2007 · 6 claims · 6 setups

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  Measuring allelic imbalance (AI) of two SNP alleles within the same sample is an effective approach for identifying cis-acting rSNPs, since each allele serves as an internal control for the other.

  tumor promoter hela cdna bead tag-microarray

• Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.

  PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups

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  The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.

  sporadic ctnnb1 paired frozen direct restriction snp

• 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

• The EPHA2 gene is associated with cataracts linked to chromosome 1p.

  PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

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  A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

  family case-control genome-wide str pcr

• Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.

  PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups

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  The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.

  lines genomic 293hek rt-pcr genomic indirect

• Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.

  PMID 19694819 · PMC4286260 · Genes, brain, and behavior · 2009 · 6 claims · 6 setups

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  A family-based clustering strategy using neurocognitive test scores (CPT, WCST) can identify more homogeneous subgroups of schizophrenia families for genetic association analysis

  multiplex affected subjects cluster-specific family-based continuous wisconsin

• Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.

  PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups

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  DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases

  cd19+ leukemia raji jurkat quantitative cobra chromatin