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).
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Has reproduction · 62
Predicting Bone Metastasis Using Gene Expression-Based Machine Learning Models.
PMID 34858485 · PMC8631472 · Frontiers in genetics · 2021 · 7 claims · 5 setups
A DNN model using the top 34 betweenness-centrality-ranked hub genes predicts bone metastasis with AUC of 92.11% on the GEO validation data.
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Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups
A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.
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p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.
PMID 8260365 · PMC1968651 · British journal of cancer · 1993 · 8 claims · 6 setups
25.7% (29/113) of bone and soft tissue sarcomas show positive p53 immunostaining
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The Neandertal genome and ancient DNA authenticity.
PMID 19661919 · PMC2725275 · The EMBO journal · 2009 · 8 claims · 6 setups
Only direct assays of DNA sequence positions where Neandertals differ from all contemporary humans can reliably estimate human contamination.
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Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups
TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes
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Has reproduction · 90
Prioritized mass spectrometry increases the depth, sensitivity and data completeness of single-cell proteomics.
PMID 37012480 · PMC10172113 · Nature methods · 2023 · 8 claims · 5 setups
pSCoPE (prioritized precursor selection via MaxQuant.Live) increases sensitivity, data completeness, and proteome coverage more than twofold over shotgun single-cell proteomics
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A comprehensive proteomics and genomics analysis reveals novel transmembrane proteins in human platelets and mouse megakaryocytes including G6b-B, a novel immunoreceptor tyrosine-based inhibitory motif protein.
PMID 17186946 · PMC1860054 · Molecular & cellular proteomics : MCP · 2007 · 8 claims · 8 setups
Three complementary membrane-enrichment proteomic methods (lectin affinity, biotin/NeutrAvidin affinity, free flow electrophoresis) combined with LC-MS/MS identify 136 transmembrane proteins in human platelets, including many novel ones.
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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups
A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.
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Mutations of the Igbeta gene cause agammaglobulinemia in man.
PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups
A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient
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The impact of microRNAs on protein output.
PMID 18668037 · PMC2745094 · Nature · 2008 · 8 claims · 8 setups
MicroRNA targeting for protein repression occurs primarily through seed-matched sites (6mer, 7mer-A1, 7mer-m8, 8mer) located in favourable predicted contexts within 3′ UTRs
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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups
The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.
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Alstrom syndrome (OMIM 203800): a case report and literature review.
PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups
The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome
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Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias.
PMID 18392055 · PMC2391109 · British journal of cancer · 2008 · 7 claims · 8 setups
AKT1 E17K mutation occurs in breast cancers at a low frequency (4/93, 4.3%)
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Has reproduction · 26
Integrating transcriptomic datasets across neurological disease identifies unique myeloid subpopulations driving disease-specific signatures.
PMID 36527260 · PMC10952672 · Glia · 2023 · 6 claims · 3 setups
The bulk microglial and monocyte transcriptomic program is highly contingent on the disease environment, challenging the notion of a universal microglial disease signature
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The molecular characterization and clinical management of multiple myeloma in the post-genome era.
PMID 19657360 · PMC3686133 · Leukemia · 2009 · 8 claims · 8 setups
GEP identifies distinct molecular subgroups of MM associated with differing clinical features and survival outcomes
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Molecular helminthology in the Rockies. Keystone Symposium on Molecular Helminthology, Copper Mountain, Colorado, USA, 9-13 April 2005.
PMID 15998458 · PMC1175981 · Genome biology · 2005 · 8 claims · 8 setups
The Schistosoma mansoni genome (~300 Mb) is nearing completion via whole-genome shotgun sequencing at ninefold coverage, with an estimated 15,000-20,000 protein-coding genes
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Improvements to cardiovascular gene ontology.
PMID 19046747 · PMC2706316 · Atherosclerosis · 2009 · 8 claims · 8 setups
Gene Ontology (GO) provides a controlled vocabulary that links current functional knowledge of genes to high-throughput genomic and proteomic datasets, aiding data interpretation.