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).

• A novel approach for determining cancer genomic breakpoints in the presence of normal DNA.

  PMID 17440616 · PMC1847701 · PloS one · 2007 · 8 claims · 6 setups

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  PAMP enriches deletion-breakpoint-spanning DNA because shorter mutant amplicons are preferentially amplified over much longer wild-type sequences when using approximated flanking primer pairs.

  detroit serial hs578t pamp individual nested

• Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

  PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.

  genomic hek293 m17 south sscp dual-luciferase pcr-rflp

• Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.

  PMID 20026586 · PMC2847243 · Nucleic acids research · 2010 · 8 claims · 5 setups

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  Telomere fusion in human cells is characterized by extensive sub-telomeric deletion of at least one telomere, extending up to 5.6-6.1 kb

  hek293 mrc5 pcr single single-molecule southern direct

• A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.

  PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups

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  Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)

  genomic hek293 hepg2 microsomes pcr site-directed luciferase

• Non-imprinted allele-specific DNA methylation on human autosomes.

  PMID 19958531 · PMC2812945 · Genome biology · 2009 · 8 claims · 7 setups

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  SNPs within CpG islands are associated with allele-specific DNA methylation differences between alleles.

  leukocytes leukocyte hek293 bisulfite methylation-sensitive cdna

• A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

  PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups

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  A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.

  genomic patients high recombinant pcr full-field paired-flash

• Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.

  PMID 19754929 · PMC2759954 · BMC genetics · 2009 · 8 claims · 4 setups

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  Breast tumor heterozygotes show a significant difference in relative mRNA levels between the two alleles of rs4986938

  breast hek293 erβ1 allelic luciferase stability

• Alternative splicing and bioinformatic analysis of human U12-type introns.

  PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups

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  The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells

  hela hek293 genome jnk2 rt-pcr minigene bioinformatic

• TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

  PMID 19079066 · PMC4312696 · Nature genetics · 2009 · 8 claims · 5 setups

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  Homozygous loss-of-function mutations in TAC3 or TACR3 cause congenital hypogonadotropic hypogonadism in four consanguineous families

  consanguineous genomic hek293a hek293 genome sanger calcium

• CNGA3 mutations in two United Arab Emirates families with achromatopsia.

  PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups

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  Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val

  achromatopsia genomic hek293 clinical pcr segregation

• Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor.

  PMID 19657311 · PMC2767399 · Pancreas · 2009 · 8 claims · 6 setups

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  A homozygous P86S mutation in GCGR is associated with hyperglucagonemia and α cell hyperplasia in the patient

  patient's hek293 pancreatic sanger radioligand camp

• Genome-wide location analysis and expression studies reveal a role for p110 CUX1 in the activation of DNA replication genes.

  PMID 18003658 · PMC2248751 · Nucleic acids research · 2008 · 8 claims · 8 setups

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  p110 CUX1 is recruited to promoters of cell cycle-related target genes preferentially during S phase

  hela hs578t nih3t3 genomic chap-chip conventional scanning

• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

  PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

  Has reproduction

  HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

  cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

• Identification of functional SNPs in the 5-prime flanking sequences of human genes.

  PMID 15717931 · PMC550646 · BMC genomics · 2005 · 6 claims · 5 setups

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  7 of 10 candidate SNPs tested by EMSA showed reproducible allele-specific differences in TF-DNA complex binding/stability

  flanking synthetic genomic cloned comparative electrophoretic rflp

• Identification of the REST regulon reveals extensive transposable element-mediated binding site duplication.

  PMID 16899447 · PMC1557810 · Nucleic acids research · 2006 · 8 claims · 8 setups

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  The RE1 PSSM identifies functional RE1 binding sites with greater sensitivity and selectivity than the previously used RE1 consensus sequence

  fibroblast hela hek293 set genome-wide electrophoretic rt-pcr

• What have we learned from the congenital myasthenic syndromes.

  PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups

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  CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction

  endplate endplates cos bacterially electron intracellular density

• Identification and characterisation of the angiotensin converting enzyme-3 (ACE3) gene: a novel mammalian homologue of ACE.

  PMID 17597519 · PMC1925091 · BMC genomics · 2007 · 7 claims · 7 setups

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  A novel single-domain ACE-like gene, ACE3, exists in mouse, rat, cow, dog and human genomes, located on the same chromosome downstream of ACE.

  dog predicted ace3 panel blast sequence homology