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).

• Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling.

  PMID 11435474 · PMC2193443 · The Journal of experimental medicine · 2001 · 8 claims · 7 setups

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  MD-2 is a required component of the LPS signaling complex; a point mutation in MD-2 abolishes LPS-induced signaling

  cho hek western nf-kb il-6

• Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

  PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups

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  OPTC is a candidate gene involved in POAG pathogenesis

  genomic pcr optc retinal pcr-sscp dhplc sequencing

• Functional role of the KLF6 tumour suppressor gene in gastric cancer.

  PMID 19101139 · PMC2970616 · European journal of cancer (Oxford, England : 1990) · 2009 · 7 claims · 8 setups

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  The KLF6 locus undergoes loss of heterozygosity (LOH) in a majority of gastric cancer samples and is associated with advanced tumour stage

  gastric ags hs746t fluorescent direct quantitative

• Profiling human androgen receptor mutations reveals treatment effects in a mouse model of prostate cancer.

  PMID 19010817 · PMC2748651 · Molecular cancer research : MCR · 2008 · 8 claims · 8 setups

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  Somatic AR mutations in h/mAR-TRAMP tumors are non-random and their genomic location correlates with treatment type (castration/antiandrogen vs intact).

  mar-tramp testis cv-1 ar-negative immunohistochemistry serum survival

• KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

  PMID 18797286 · PMC2743278 · Current opinion in otolaryngology & head and neck surgery · 2008 · 8 claims · 8 setups

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  KCNQ4 mutations at the DFNA2 locus on chromosome 1p34 cause autosomal dominant nonsyndromic progressive sensorineural hearing loss

  seven-generation dfna2 xenopus kcnq4 linkage mutation heterologous

• Tyrosine phosphorylation inhibits PKM2 to promote the Warburg effect and tumor growth.

  PMID 19920251 · PMC2812789 · Science signaling · 2009 · 7 claims · 8 setups

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  Oncogenic FGFR1 directly phosphorylates PKM2 at tyrosine 105 (Y105), inhibiting its enzymatic activity

  293t kg-1a recombinant h1299 ms-based co-transfection enzymatic

• A restricted spectrum of NRAS mutations causes Noonan syndrome.

  PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups

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  Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation

  cohort cos-7 recombinant nras mutation western ras

• Alkyltransferase-mediated toxicity of 1,3-butadiene diepoxide.

  PMID 18712882 · PMC2614079 · Chemical research in toxicology · 2008 · 8 claims · 6 setups

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  hAGT expression increases mutations and cytotoxicity following BDO exposure, and hAGT-DNA cross-links form in the presence of BDO

  recombinant wt-hagt [35s]-labelled trg8 sds-page time-course forward

• Contribution of the C-terminal region within the catalytic core domain of HIV-1 integrase to yeast lethality, chromatin binding and viral replication.

  PMID 19014595 · PMC2615443 · Retrovirology · 2008 · 7 claims · 8 setups

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  IN mutants V165A, A179P and KR186,7AA in the C-terminal region of the catalytic core domain fail to induce the lethal phenotype in HP16 yeast

  saccharomyces hp16 293t cos-7 yeast immunoprecipitation chromatin

• Activating mutations in ALK provide a therapeutic target in neuroblastoma.

  PMID 18923525 · PMC2587486 · Nature · 2008 · 8 claims · 8 setups

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  Non-synonymous ALK kinase domain mutations occur in 8% of primary neuroblastomas, with F1174L being the most frequent

  neuroblastoma kelly fish sequencing cytokine-independence

• Mutational analysis of p80 coilin indicates a functional interaction between coiled bodies and the nucleolus.

  PMID 7490287 · PMC2200013 · The Journal of cell biology · 1995 · 8 claims · 7 setups

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  p80 coilin plays an important role in subnuclear organization and there is a functional interaction between coiled bodies and nucleoli

  multi-tissue rabbit hela northern transcription western

• Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

  PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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  Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL

  genomic jak1-deficient u4c bw5147 dhplc stat1 cytokine-independent

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

  PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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  Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

  cmt2c affected spinal drg genetic sanger quantitative

• Current and future directions in genomics of amyotrophic lateral sclerosis.

  PMID 18625410 · PMC3524513 · Physical medicine and rehabilitation clinics of North America · 2008 · 8 claims · 8 setups

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  Familial ALS (FALS, 5-10% of cases) follows Mendelian autosomal dominant inheritance, with 20% caused by SOD1 mutations and 80% by unknown mutations

  american sals dutch irish genome laser expression

• A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

  PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups

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  A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred

  genomic tsa201 unspecified proband sequence modified full-length

• Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

  PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one

  peripheral cos-7 direct confocal co-localization

• Application of genomics to toxicology research.

  PMID 12634120 · PMC1241273 · Environmental health perspectives · 2002 · 8 claims · 3 setups

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  Toxic chemical exposures alter gene expression, producing a diagnostic transcriptional 'fingerprint' that can be matched against known toxicants to classify untested chemicals' toxic potential.

  yeast rodents rodent microarray proposed cross-species

• The Li2 mutation results in reduced subgenome expression bias in elongating fibers of allotetraploid cotton (Gossypium hirsutum L.).

  PMID 24598808 · PMC3944810 · PloS one · 2014 · 8 claims · 7 setups

  Has reproduction · 58

  The Li2 mutation significantly reduces subgenome (homeolog) expression bias in the elongating fiber transcriptome.

  developing rna-seq expressed subgenome-biased paired-end rna-seq rt-qpcr

• Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.

  PMID 15494720 · PMC2409947 · British journal of cancer · 2004 · 8 claims · 7 setups

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  Significant overexpression of p53 protein was found in 48% of 74 astrocytic tumours

  archival subset recombinant same immunohistochemistry antibody cytokeratin

• Iterative class discovery and feature selection using Minimal Spanning Trees.

  PMID 15355552 · PMC520744 · BMC bioinformatics · 2004 · 7 claims · 5 setups

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  Iterating between MST-based clustering and t-statistic feature selection removes noise genes step-wise while sharpening the sample clustering

  simulated breast acute diffuse synthetic cdna microarray