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).

• Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

  PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups

  Full-text index only

  INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype

  metaphase genomic ebv-transformed serum fluorescence multiplex sanger

• FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q).

  PMID 19758696 · PMC2826525 · Leukemia research · 2010 · 7 claims · 4 setups

  Full-text index only

  MC, FISH, and SNP-A are complementary techniques whose combined use improves diagnostic yield for detecting del(5q), -7/del(7q), trisomy 8, and del(20q) in MDS

  bone pellets extracted cd3+ metaphase fluorescence snp

• Phase transition specified by a binary code patterns the vertebrate eye cup.

  PMID 34757798 · PMC8580326 · Science advances · 2021 · 7 claims · 6 setups

  Has reproduction · 74

  FGF signaling is required for ciliary margin (CM) development; loss of FGFRs in peripheral retina abolishes CM markers and causes aniridia

  embryonic e13.5 retina immunostaining single-cell velocity

• Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.

  PMID 16512914 · PMC1413517 · BMC medical genetics · 2006 · 8 claims · 5 setups

  Full-text index only

  Patient carries a novel 2.3 Mb deletion in 22q11.2 with proximal breakpoint between RH48663/RH48348 and distal breakpoint between D22S1138/SHGC-145314

  genomic maternal 22qtdr chromosome semi-quantitative pcr fish

• A genome-wide screen for copy number alterations in Aicardi syndrome.

  PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

  Full-text index only

  Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.

  genomic subject array quantitative fluorescence

• Lineage-specific, fast-evolving GATA-like gene regulates zygotic gene activation to promote endoderm specification and pattern formation in the Theridiidae spider.

  PMID 36203191 · PMC9535882 · BMC biology · 2022 · 8 claims · 8 setups

  Has reproduction · 65

  Comparative RNA-seq of cells isolated from central, intermediate, and peripheral regions of stage-3 embryos identifies genes with locally restricted expression genome-wide

  tepidariorum drosophila rna-seq whole-mount parental

• Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

  PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

  Full-text index only

  ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

  pfm selected point-mutation-negative family dhplc bidirectional multiplex

• Multi-omic identification of perineurial hyperplasia and lipid-associated nerve macrophages in human polyneuropathies.

  PMID 40849297 · PMC12375038 · Nature communications · 2025 · 8 claims · 8 setups

  Has reproduction · 90

  Multi-omic profiling (snRNA-seq + spatial transcriptomics) of human sural nerves identifies novel cell type markers (MLIP in mySC; GRIK3, PRIMA1 in nmSC; CXCL14 in periC) not previously described in rodent or human literature

  sural peripheral snrna-seq nerve single-nucleus subcellular situ

• A candidate metastasis-associated DNA marker for ductal mammary carcinoma.

  PMID 12631399 · PMC154149 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups

  Full-text index only

  RDA comparing normal and metastatic ductal breast carcinoma cell DNA identified 10 unique metastasis-associated DNA sequences (MADS) apparently lost in metastatic cells

  microdissected h&e-stained metastatic cloned representational single laser

• Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays.

  PMID 17470268 · PMC1868757 · BMC genomics · 2007 · 8 claims · 7 setups

  Full-text index only

  graCNV uses re-annotated Affymetrix expression microarray probe sets and the WPP algorithm to measure DNA copy number variation at a median resolution of ~17,500 bp without genomic complexity reduction.

  neuroblastoma same normal megabladder acgh bac principal

• APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

  PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

  Full-text index only

  Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

  blood pcr pcr-amplified cdna chemical sequencing single-strand