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).

• TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

  PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups

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  A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.

  brain peripheral sk-nsh-n genomic rt-pcr direct snp

• Multiple polymorphisms, but no mutations, in the WAF1/CIP1 gene in human brain tumours.

  PMID 7577473 · PMC2033923 · British journal of cancer · 1995 · 8 claims · 5 setups

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  No somatic mutations of WAF1/CIP1 were found in 158 primary human brain tumours

  reamplified same brain healthy sscp direct microsatellite

• A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

  PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups

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  Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected

  ftld grn genomic post-mortem clinical volumetric direct

• Alzheimer's disease biomarker discovery in symptomatic and asymptomatic patients: experimental approaches and future clinical applications.

  PMID 19796674 · PMC2840994 · Experimental gerontology · 2010 · 8 claims · 4 setups

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  cDNA microarray screening of 6794 genes identified 32 genes aberrantly expressed (>1.8-fold) in the superior temporal gyrus of moderate dementia cases versus cognitively normal controls

  post-mortem cortico-hippocampal cdna western culture

• GENCODE: producing a reference annotation for ENCODE.

  PMID 16925838 · PMC1810553 · Genome biology · 2006 · 8 claims · 8 setups

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  GENCODE annotation combines initial manual annotation by HAVANA, experimental validation, and refinement based on results to identify protein-coding genes in ENCODE regions

  tissues encode rt-pcr comparative automated

• In vivo prime editing rescues alternating hemiplegia of childhood in mice.

  PMID 40695277 · PMC12702498 · Cell · 2025 · 8 claims · 8 setups

  Has reproduction · 84

  PE and BE strategies efficiently correct five prevalent ATP1A3 mutations (D801N, E815K, L839P, G947R-A, G947R-C) in HEK293T cells and AHC patient-derived iPSCs, with 43%-90% correction in iPSCs.

  hek293t ahc n2a b6c3.atp1a3 prime circle-seq rhampseq

• Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

  PMID 18717728 · PMC7254873 · European journal of neurology · 2008 · 8 claims · 4 setups

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  Spatacsin (SPG11) mutations are a frequent cause of complex ARHSP, occurring in 3 of 8 screened families

  genomic patients sanger brain clinical

• NK2R control of energy expenditure and feeding to treat metabolic diseases.

  PMID 39537932 · PMC11602716 · Nature · 2024 · 8 claims · 8 setups

  Has reproduction · 87

  NK2R activation is sufficient to suppress appetite centrally and increase energy expenditure peripherally

  european-ancestry brain nk2r greenlandic gwas transcriptome-wide receptor

• TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

  PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups

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  No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.

  genomic dog sage pcr northern sage

• The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain.

  PMID 16733552 · PMC1464830 · PLoS genetics · 2006 · 8 claims · 7 setups

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  Human and chimp genomes differ by ~35 million single nucleotide substitutions, corresponding to ~1.06% divergence after removing polymorphic sites

  chimpanzee chimp population non-human genome snp high-density

• A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

  PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

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  A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1

  peripheral genomic pcr direct pcr rflp

• Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors.

  PMID 17442112 · PMC1863428 · BMC cancer · 2007 · 7 claims · 5 setups

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  CYYR1 mRNA undergoes a 'subtle' alternative splicing event generating two isoforms (CAG- and CAG+) differing by a single alanine codon at the exon3/exon4 junction

  neuroendocrine tumors normal cyyr1 rt-pcr quantitative psti

• Managing incidental findings in human subjects research: analysis and recommendations.

  PMID 18547191 · PMC2575242 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups

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  Little guidance currently exists on managing research IFs, and no consensus exists on the best approach across genetic/genomic and imaging research domains.

  affected large research consent linkage genomic structural

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr

• Association of GSK3B with Alzheimer disease and frontotemporal dementia.

  PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups

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  The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort

  genomic case-control family-based sib-pair pcr allele-specific fluorescence-polarization

• Assignment of Streptococcus agalactiae isolates to clonal complexes using a small set of single nucleotide polymorphisms.

  PMID 18710585 · PMC2533671 · BMC microbiology · 2008 · 7 claims · 6 setups

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  A four-SNP set (glnA36, glnA429, glcK180, adhP111) identified via the Not-N algorithm plus empirical testing divides GBS into 10 groups concordant with eBURST-defined population structure.

  gbs clinical bioinformatic eburst kinetic

• ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

  PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

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  37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

  genomic identified sacs-mutation-positive alleles pcr clinical brain

• Expanding the vision of environmental health at UNC-CH.

  PMID 15248304 · PMC1247395 · Environmental health perspectives · 2004 · 8 claims · 8 setups

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  Human breast tumors arise from at least two distinct cell types, basal and luminal epithelial, with different clinical behavior

  breast chinese carolina rodent microarray functional genetic

• Diversity of tRNA genes in eukaryotes.

  PMID 17088292 · PMC1693877 · Nucleic acids research · 2006 · 8 claims · 6 setups

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  The number of tRNA genes having the same anticodon but different sequences elsewhere (isodecoder genes) varies significantly (10–246) across 11 eukaryotes despite isoacceptor numbers being similar (41–55)

  eukaryotic bacterial genome synthetic genome-wide sequence manual

• MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

  PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups

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  Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype

  blood a1555g lymphoblastoid nuclear pcr-rflp direct rt-pcr