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).

• JAK2 V617F: a single mutation in the myeloproliferative group of disorders.

  PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups

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  A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis

  blood haematopoietic granulocytes mpd pcr-direct sirna microsatellite

• In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

  PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups

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  A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).

  genomic muscle skeletal direct topo genescan

• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

  PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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  A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

  blood-derived patient-derived serum genomic direct rt-pcr gelatin

• RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.

  PMID 29734338 · PMC5937737 · PLoS genetics · 2018 · 8 claims · 8 setups

  Has reproduction

  PAK1 is a novel direct effector of RIT1

  hek293t cos7 his-tagged western gst co-immunoprecipitation

• Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

  PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups

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  All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix

  dermal skeletal fibroblast confluent rt-pcr immunohistochemistry biosynthetic

• Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.

  PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups

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  Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database

  tumors cancer tumor lung direct database quantitative

• Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

  PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups

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  TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls

  leucocytes mesenchymal leucocyte real-time direct flow

• A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.

  PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups

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  Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)

  genomic hek293 hepg2 microsomes pcr site-directed luciferase

• Recruitment of the m(6)A/m6Am demethylase FTO to target RNAs by the telomeric zinc finger protein ZBTB48.

  PMID 39300486 · PMC11414060 · Genome biology · 2024 · 8 claims · 8 setups

  Has reproduction · 78

  ZBTB48 physically interacts with the m6A/m6Am demethylase FTO

  hek293 inducible polyadenylated ap-ms co-immunoprecipitation clip

• A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

  PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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  The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

  microdissected resected non-tumor liver pcr-rflp immunohistochemistry western

• Transgenic rats carrying human c-Ha-ras proto-oncogene are highly susceptible to N-nitrosomethylbenzylamine induction of esophageal tumorigenesis.

  PMID 12149139 · PMC5927067 · Japanese journal of cancer research : Gann · 2002 · 8 claims · 6 setups

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  Hras128 rats are highly susceptible to NMBA-induced esophageal tumorigenesis, developing multiple large squamous cell tumors at 100% incidence within 10 weeks, versus fewer/smaller tumors in wild-type rats

  hras128 esophageal pcr endogenous carcinogenesis pcr-rflp direct

• A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

  PMID 18804929 · PMC2702532 · Brain & development · 2009 · 6 claims · 8 setups

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  A novel homozygous POMT2 mutation (c.604T>G, p.F202V) causes mild congenital muscular dystrophy with normal brain MRI

  skeletal genomic cos serum immunohistochemistry immunoblotting laminin

• A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

  PMID 20003495 · PMC2802351 · Orphanet journal of rare diseases · 2009 · 8 claims · 7 setups

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  A novel FAH gene mutation, c.103G>A (Ala35Thr), causes a mild, atypical form of tyrosinemia type I

  fibroblasts liver genomic tnt northern western liver

• A novel approach for determining cancer genomic breakpoints in the presence of normal DNA.

  PMID 17440616 · PMC1847701 · PloS one · 2007 · 8 claims · 6 setups

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  PAMP enriches deletion-breakpoint-spanning DNA because shorter mutant amplicons are preferentially amplified over much longer wild-type sequences when using approximated flanking primer pairs.

  detroit serial hs578t pamp individual nested

• Expanding CEP290 mutational spectrum in ciliopathies.

  PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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  A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.

  peripheral genomic quantitative cdna pcr

• Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

  PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups

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  High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.

  retina blood visual adaptive real-time genetic

• Systematic prediction of human membrane receptor interactions.

  PMID 19798668 · PMC3076061 · Proteomics · 2009 · 7 claims · 6 setups

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  Predicting interactions specifically for membrane receptors, rather than deriving them from a general human interactome model, improves prediction performance for these proteins

  cos-1 um-22a hep3b gst-egfr co-immunoprecipitation pulldown binding

• Non-cross-linking gold nanoparticle aggregation as a detection method for single-base substitutions.

  PMID 15640441 · PMC546178 · Nucleic acids research · 2005 · 8 claims · 7 setups

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  NCL aggregation of DNA-modified gold nanoparticles shows extraordinary selectivity against terminal mismatches at the free ends of surface-bound duplexes

  probe-modified probe-gnp synthetic four uv-vis ssdna pcr