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 · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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Analysis of the glutathione S-transferase (GST) gene family.
PMID 15607001 · PMC3500200 · Human genomics · 2004 · 8 claims · 4 setups
The complete human GST gene family comprises 16 genes in six subfamilies: alpha (GSTA), mu (GSTM), omega (GSTO), pi (GSTP), theta (GSTT) and zeta (GSTZ).
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The EH1 motif in metazoan transcription factors.
PMID 16309560 · PMC1310626 · BMC genomics · 2005 · 8 claims · 5 setups
There is a statistically significant association between EH1hox motif HMM score and transcription factor function across human, Drosophila and C. elegans proteomes.
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Non-EST based prediction of exon skipping and intron retention events using Pfam information.
PMID 16204458 · PMC1243800 · Nucleic acids research · 2005 · 7 claims · 5 setups
A novel ab initio method predicts exon skipping and intron retention events using only Pfam domain annotation, via a Viterbi-like dynamic programming algorithm applied to the Pfam alignment.
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Phylogenetic analysis of RhoGAP domain-containing proteins.
PMID 17127216 · PMC5054073 · Genomics, proteomics & bioinformatics · 2006 · 7 claims · 6 setups
RhoGAP domain-containing proteins, sharing the conserved arginine residue, form a monophyletic group with a common ancestor.
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'Genome design' model and multicellular complexity: golden middle.
PMID 17062620 · PMC1635334 · Nucleic acids research · 2006 · 8 claims · 8 setups
Intermediately expressed human genes are the longest genes genome-wide, in both coding and intronic sequence, longer than housekeeping or tissue-specific genes.
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Mutations in PIK3CA are infrequent in neuroblastoma.
PMID 16822308 · PMC1533846 · BMC cancer · 2006 · 8 claims · 6 setups
PIK3CA activating mutations are infrequent in human neuroblastoma (2.9%, 2/69 tumors)
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Proteomic screen defines the hepatocyte nuclear factor 1alpha-binding partners and identifies HMGB1 as a new cofactor of HNF1alpha.
PMID 18160415 · PMC2275099 · Nucleic acids research · 2008 · 8 claims · 8 setups
HMGB1 is a novel HNF1α-interacting protein identified via a co-IP-MS screening strategy
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A systematic comparative and structural analysis of protein phosphorylation sites based on the mtcPTM database.
PMID 17521420 · PMC1929158 · Genome biology · 2007 · 7 claims · 6 setups
mtcPTM is a hierarchically organized database of human and mouse phosphosites that preserves experimental context, enabling comparison of phosphorylation patterns across conditions
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Retroposition and evolution of the DNA-binding motifs of YY1, YY2 and REX1.
PMID 17478514 · PMC1904287 · Nucleic acids research · 2007 · 8 claims · 5 setups
62 YY1-related sequences were identified across genomes ranging from flying insects to humans, with high zinc finger domain conservation
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The fate of the duplicated androgen receptor in fishes: a late neofunctionalization event?
PMID 19094205 · PMC2637867 · BMC evolutionary biology · 2008 · 8 claims · 4 setups
AR was duplicated into two paralogs, AR-A and AR-B, during a teleost-specific whole genome duplication (WGD), after the split of Acipenseriformes but before the divergence of Osteoglossiformes.
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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
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.
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SysZNF: the C2H2 zinc finger gene database.
PMID 18974185 · PMC2686507 · Nucleic acids research · 2009 · 7 claims · 6 setups
SysZNF is a database that systematically catalogs C2H2-ZNF genes in human and mouse with physical location, gene models, expression probes, protein domains, homologs, and literature links
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A computational screen for type I polyketide synthases in metagenomics shotgun data.
PMID 18953415 · PMC2568958 · PloS one · 2008 · 8 claims · 6 setups
Combining HMM domain searches with maximum-likelihood phylogenetic trees can discriminate true PKS I sequences from evolutionarily related but functionally different enzymes (e.g., FAS I) in metagenomic data.
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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups
PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).
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Prioritization of candidate cancer genes--an aid to oncogenomic studies.
PMID 18710882 · PMC2566894 · Nucleic acids research · 2008 · 8 claims · 8 setups
Computational classifiers using combinations of protein conservation, gene structure, protein domains, protein interactions, and regulatory data can distinguish known cancer genes (CD/CR) from unlabelled human genes
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Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties.
PMID 18673550 · PMC2533329 · BMC evolutionary biology · 2008 · 8 claims · 6 setups
The human TRIM family is split into two groups (group 1 and group 2) that differ in domain structure, genomic organization, and evolutionary properties.
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Molecular evolution of Cide family proteins: novel domain formation in early vertebrates and the subsequent divergence.
PMID 18500987 · PMC2426694 · BMC evolutionary biology · 2008 · 8 claims · 5 setups
Sequences homologous to the CIDE-N domain/NCD show a wide phylogenetic distribution, from hydra and sea anemone to mammals, while true Cide proteins are restricted to vertebrates.
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Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.
PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups
Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts
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Intrinsic structural disorder confers cellular viability on oncogenic fusion proteins.
PMID 19888473 · PMC2768585 · PLoS computational biology · 2009 · 8 claims · 5 setups
Translocation-related human proteins are significantly enriched in intrinsic structural disorder compared to all human proteins