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).

• Genotype differences in cognitive functioning in Noonan syndrome.

  PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

  Full-text index only

  Genotype differences account for some of the variation in cognitive ability in Noonan syndrome

  individuals participants parents standardized genetic pure-tone

• Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

  PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups

  Full-text index only

  No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed

  sporadic tumour tumour-derived pcr loss semi-quantitative

• Differential Gene Expression and Methylation Analysis of Melanoma in TCGA Database to Further Study the Expression Pattern of KYNU in Melanoma.

  PMID 35893303 · PMC9329910 · Journal of personalized medicine · 2022 · 8 claims · 8 setups

  Has reproduction · 100

  KYNU expression is decreased in melanoma despite a high KYNU mutation rate in the TCGA database

  tcga-skcm melanoma keratinocytes differential copy methylation

• Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

  PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups

  Full-text index only

  The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.

  8-year-old muscle lower skeletal molecular immunostaining electromyogram

• Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.

  PMID 17456229 · PMC1868706 · BMC medical genetics · 2007 · 7 claims · 4 setups

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  No mutations were identified in the VEGFR2 gene (exons 7, 18, 21, 27, promoter, or 5' UTR) in ALS patients

  genomic pcr als direct restriction allele

• Mutation of ERBB2 provides a novel alternative mechanism for the ubiquitous activation of RAS-MAPK in ovarian serous low malignant potential tumors.

  PMID 19010816 · PMC6953412 · Molecular cancer research : MCR · 2008 · 8 claims · 8 setups

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  Activating RAS-MAPK pathway mutations are present in >70% of serous LMP tumors versus ~12.5% of serous ovarian carcinomas

  serous same lmp braf-mutant gene hotspot erbb2

• CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.

  PMID 36396635 · PMC9672366 · Nature communications · 2022 · 8 claims · 7 setups

  Has reproduction · 50

  Loss of CHD7 or its chromatin remodeling (ATPase) activity causes complete absence of hair cells and supporting cells in inner ear organoids.

  pax2ng inner facs-isolated pax2ng+ western immunostaining scrna-seq

• Comprehensive genomic analysis reveals clinically relevant molecular distinctions between thymic carcinomas and thymomas.

  PMID 19861435 · PMC2783876 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 7 claims · 7 setups

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  Comprehensive genomic analysis shows thymic carcinomas are molecularly distinct from thymomas

  resected thymic previously mass dideoxynucleotide array

• Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.

  PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups

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  Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls

  dermal same fibroblasts analysis microarray quantitative rt-pcr

• Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.

  PMID 18836848 · PMC4319114 · Journal of inherited metabolic disease · 2008 · 7 claims · 8 setups

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  Synergistic heterozygosity — cumulative heterozygous mutations at multiple loci in functionally related metabolic pathways — can cause physiologically relevant reduction of pathway flux and disease.

  models liver sucrose vlcad-deficient physiological blue sucrose

• Proteomics in animal models of Alzheimer's and Parkinson's diseases.

  PMID 18703168 · PMC2630427 · Ageing research reviews · 2009 · 8 claims · 6 setups

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  Proteomics studies in APPSw transgenic mice reveal differential expression of proteins involved in metabolism, ubiquitin/proteasome system, cellular transport, synaptic/axonal integrity, and inflammation

  app swedish p301l gskβ page proteomics redox

• Gene expression study on peripheral blood identifies progranulin mutations.

  PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups

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  PGRN is highly expressed in peripheral blood (97th percentile of all array genes)

  peripheral blood-derived microarray direct real-time

• High-resolution profiling of pathways of escape for SARS-CoV-2 spike-binding antibodies.

  PMID 34010620 · PMC8096189 · Cell · 2021 · 7 claims · 3 setups

  Has reproduction · 87

  Phage-DMS comprehensively maps the effect of all possible single mutations across the SARS-CoV-2 spike protein on polyclonal plasma antibody binding, defining antibody escape pathways.

  phage-displayed covid-19 pseudotyped phage-dms elisa pseudovirus

• Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.

  PMID 18772397 · PMC2848990 · Science (New York, N.Y.) · 2008 · 8 claims · 6 setups

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  Pancreatic cancers contain an average of 63 genetic alterations, the majority of which are point mutations

  pancreatic computational targeted prevalence snp

• Stem rust resistance in wheat is suppressed by a subunit of the mediator complex.

  PMID 32111840 · PMC7048732 · Nature communications · 2020 · 6 claims · 8 setups

  Has reproduction · 95

  SuSr-D1 encodes Med15b.D, a subunit of the conserved Mediator complex that regulates transcription of protein-coding genes.

  wheat cth chromosome ns1 stem adult-plant flow-sorted

• iCOMIC: a graphical interface-driven bioinformatics pipeline for analyzing cancer omics data.

  PMID 35899080 · PMC9310080 · NAR genomics and bioinformatics · 2022 · 8 claims · 4 setups

  Has reproduction · 58

  iCOMIC provides a GUI-driven, Snakemake-based pipeline integrating multiple tools for DNA-Seq and RNA-Seq analysis with minimal command-line interaction.

  giab monocyte missense somatic germline rna-seq machine

• Human disease classification in the postgenomic era: a complex systems approach to human pathobiology.

  PMID 17625512 · PMC1948102 · Molecular systems biology · 2007 · 8 claims · 5 setups

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  Current syndromic disease classification lacks specificity despite historically serving clinicians well

  prostate neurodegenerative experimental genetic reverse-engineered protein-protein gene

• Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.

  PMID 17299390 · PMC2360060 · British journal of cancer · 2007 · 8 claims · 6 setups

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  DDR1 is significantly upregulated in NSCLC tumour tissue compared with matched normal lung tissue

  nsclc matched lung quantitative pcr genomic

• Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans.

  PMID 15361934 · PMC515368 · PLoS biology · 2004 · 7 claims · 8 setups

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  The HIF-1/VHL-1/EGL-9 hydroxylase pathway is tightly conserved in C. elegans

  elegans whole-genome rnase pharmacological

• An integrated genomic analysis of human glioblastoma multiforme.

  PMID 18772396 · PMC2820389 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups

  Full-text index only

  IDH1 is recurrently mutated at its active site (R132) in 12% of GBM patients, a previously unrecognized alteration in GBM.

  gbm additional missense exome targeted snp