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).

• Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

  PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups

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  LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype

  unrelated patients people homozygous genetic standardized olfaction

• 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

• Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

  PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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  Mutations in GLE1, an mRNA export mediator, cause LCCS1

  lccs1 laahd finnish healthy genomic microsatellite carrier

• Chemical and genomic characterization of a potential probiotic treatment for stony coral tissue loss disease.

  PMID 37024599 · PMC10079959 · Communications biology · 2023 · 8 claims · 8 setups

  Has reproduction · 85

  McH1-7 has broad-spectrum antibacterial activity against SCTLD-associated bacterial isolates and other Gram-positive/Gram-negative targets

  cavernosa live mch1-7 compound plate disk nmr

• A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

  PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups

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  A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients

  blood-extracted family 8-member pde6-deficient arrp direct pedigree

• Analysis of human sarcospan as a candidate gene for CFEOM1.

  PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups

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  Sarcospan sequence is unmutated in all six CFEOM1 families studied

  yac genomic extraocular genome pcr direct immunofluorescence

• Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

  PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups

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  The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.

  blood germline tumor family mutation mlpa microsatellite

• 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

• Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

  PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups

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  Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21

  genomic ush2 ush2a sscp audiological ophthalmological

• Systems biology in human health and disease.

  PMID 17893698 · PMC2013921 · Molecular systems biology · 2007 · 8 claims · 5 setups

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  High-throughput quantitative proteomics of signaling networks (e.g., HER2 overexpression) can be correlated with biological responses like proliferation and migration to better understand pathways deregulated in cancer.

  her2 biological prostate model quantitative combinatorial genome-wide

• Detecting tipping points of complex diseases by network information entropy.

  PMID 38960408 · PMC11221888 · Briefings in bioinformatics · 2024 · 8 claims · 4 setups

  Has reproduction · 78

  NIEE can detect critical states or tipping points in diverse data types, including bulk and single-sample expression data

  real stringdb individual genes network background sample-specific

• Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

  PMID 19092437 · PMC2810953 · Genetics in medicine : official journal of the American College of Medical Genetics · 2008 · 8 claims · 5 setups

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  CFTR-related disorders form a disease spectrum ranging from isolated congenital absence of the vas deferens (CAVD) to multiorgan classic cystic fibrosis (CF).

  patients newborns sweat transepithelial cftr

• Integrated Analysis of Multiple Microarrays Based on Raw Data Identified Novel Gene Signatures in Recurrent Implantation Failure.

  PMID 35197930 · PMC8859149 · Frontiers in endocrinology · 2022 · 6 claims · 7 setups

  Has reproduction · 85

  Robust Rank Aggregation (RRA) can integrate DEG lists from multiple independent RIF microarray datasets to identify robust DEGs.

  endometrium integrated robust ppi microarray robust gene

• CHEK2 variants associate with hereditary prostate cancer.

  PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups

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  CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls

  index hpc unselected affected sscp sequencing minisequencing

• In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.

  PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups

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  A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries

  est acute 100-nt whole-genome est-based pcr-based secondary

• Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.

  PMID 18334955 · PMC2268852 · Molecular vision · 2008 · 7 claims · 4 setups

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  MFRP mutations were previously reported to cause nanophthalmos and a distinct microphthalmos/retinitis pigmentosa/foveoschisis syndrome, motivating it as a candidate gene for axial length regulation

  genomic multiplex direct pcr taqman

• Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

  PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups

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  Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men

  peripheral population-based same germline epidemiological genotype-phenotype

• Chips to hits.

  PMID 11983055 · PMC139346 · Genome biology · 2002 · 8 claims · 8 setups

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  Illumina's fiber-optic bead array technology allows ~2,000 oligonucleotide-based assays per bead array for high-throughput genotyping

  individual yeast pools lncap cell-based affymetrix automated

• Patents and translational research in genomics.

  PMID 17621295 · PMC1955681 · Nature biotechnology · 2007 · 8 claims · 2 setups

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  Gene patents can impede the use of genes for research, diagnosis and treatment, thereby hindering translational genomics research

  publicly mutation patent

• A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

  PMID 17615540 · PMC2768755 · Molecular vision · 2007 · 8 claims · 4 setups

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  A novel heterozygous C260T substitution in GJA3, causing a Thr87Met (T87M) change, is associated with a distinct 'pearl box' cataract phenotype in family CC-472.

  genomic patients connexin bidirectional restriction clinical