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).

• 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

• Modification at HuR(S242) alters HuR localization and proliferative influence.

  PMID 18948743 · PMC2704553 · Cell cycle (Georgetown, Tex.) · 2008 · 8 claims · 8 setups

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  Systematic S→A mutagenesis of the seven hinge-region serines identifies S242 as a novel determinant of HuR subcellular localization

  hela western cycloheximide rnp

• Human Proteinpedia: a unified discovery resource for proteomics research.

  PMID 18948298 · PMC2686511 · Nucleic acids research · 2009 · 8 claims · 8 setups

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  Human Proteinpedia is a community portal using a distributed annotation system (DAS) to share both published and unpublished human proteomic data

  proteins tissues plasma expressing tandem immunohistochemistry mass

• Proteomic profiling of gamma-secretase substrates and mapping of substrate requirements.

  PMID 18942891 · PMC2570425 · PLoS biology · 2008 · 8 claims · 5 setups

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  An unbiased SILAC-based proteomic screen identified a relatively small cohort of γ-secretase substrates among thousands of proteins in HeLa cells, all of which are type I transmembrane proteins.

  hela presenilin-1 hek silac western

• 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

• Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

  PMID 18820594 · PMC2905378 · Pharmacogenetics and genomics · 2008 · 7 claims · 8 setups

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  The tRNA-Thr G15927A mutation has a potential modifier role that increases penetrance and expressivity of A1555G-associated deafness.

  blood genomic lymphoblastoid same pcr-rflp mitochondrial northern

• Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.

  PMID 18784923 · PMC2755762 · Annals of hematology · 2009 · 6 claims · 4 setups

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  A non-radioactive, enzyme-coupled luminometric assay can quantify Ras activation as %GTP/(GTP+GDP) with high sensitivity (detects 1 fmol GTP)

  bone n=23 3t3 ras genomic

• Endurance exercise as a countermeasure for aging.

  PMID 18716044 · PMC2570389 · Diabetes · 2008 · 8 claims · 8 setups

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  Reduced insulin sensitivity with age is likely related to adiposity and physical inactivity rather than being an inevitable consequence of aging.

  vastus mitochondria mitochondrial extracted euglycemic-hyperinsulinemic mitochondrial citrate

• A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

  PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups

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  A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.

  genomic laser-capture cell-free hela sscp loss transcription

• Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.

  PMID 18614783 · PMC2518320 · The New England journal of medicine · 2008 · 7 claims · 5 setups

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  A heterozygous frameshift mutation in NPPA (encoding atrial natriuretic peptide, ANP) causes familial atrial fibrillation

  family plasma atria genome-wide fine exon

• A proteomics grade electron transfer dissociation-enabled hybrid linear ion trap-orbitrap mass spectrometer.

  PMID 18613715 · PMC2601597 · Journal of proteome research · 2008 · 8 claims · 5 setups

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  A NCI source coupled via an added octopole and the c-trap to a QLT-orbitrap enables fast, efficient ETD reagent anion injection (4-8 ms)

  saccharomyces histone glioblastoma fluoranthene lc-ms etd anion

• Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.

  PMID 18418848 · PMC6668724 · Genes, chromosomes & cancer · 2008 · 6 claims · 5 setups

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  Emulsion PCR combined with picotiter plate pyrosequencing (454 sequencing) enables high-resolution, high-throughput detection of low-frequency sequence variants among the many individual copies of an amplified gene.

  erbb2-amplified erbb2-positive plasmid cos-7 emulsion serial immune-complex

• Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma.

  PMID 18195710 · PMC2361461 · British journal of cancer · 2008 · 8 claims · 4 setups

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  HAI-2/SPINT2 was previously identified as a novel epigenetically inactivated candidate RCC tumour suppressor gene

  rcc skrc39 gene rt-pcr bisulphite

• Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.

  PMID 18174378 · PMC2605348 · Blood · 2008 · 7 claims · 8 setups

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  Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband

  erythrocyte genomic erythrocytes xenopus sds-page sscp dids

• A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

  PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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  A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

  family sural nefl-null sw-13 clinical genetic immunohistochemistry

• Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

  PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups

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  CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

  unrelated genomic mtmr2 array quantitative sanger

• Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.

  PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups

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  PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer

  colon gbm cancer dbtrg array pcr colony

• Three assays show differences in binding of wild-type and mutant p53 to unique gene sequences.

  PMID 19925028 · PMC2917581 · Technology in cancer research & treatment · 2009 · 7 claims · 6 setups

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  Three different DNA binding assays (EMSA, SPA, streptavidin magnetic bead assay) show differences in binding of wild-type and mutant p53 to unique gene sequences

  nuclear wro electrophoretic binding streptavidin

• A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

  PMID 19864672 · PMC2793117 · The New England journal of medicine · 2009 · 7 claims · 7 setups

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  A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.

  family patients peripheral-blood peripheral snp microsatellite sanger

• Biotin tagging coupled with amino acid-coded mass tagging for efficient and precise screening of interaction proteome in mammalian cells.

  PMID 19834888 · PMC4302342 · Proteomics · 2009 · 7 claims · 7 setups

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  BioCAT (biotin tagging + AACT) enables highly sensitive and accurate single-step screening of mammalian protein-protein interactions without establishing a stable cell line

  293t standard nk92mi list western sds-page nanolc-ms