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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Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups
Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings
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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one
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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
Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband
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A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.
PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups
The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls
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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups
A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)
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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups
SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4
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The malaria secretome: from algorithms to essential function in blood stage infection.
PMID 18551176 · PMC2408878 · PLoS pathogens · 2008 · 8 claims · 5 setups
An expanded secretome (van Ooij secretome) built from a revised SignalP MaxS cutoff (0.571) plus HMMER-expanded HT-motif search yields 422 proteins (224 excluding RIFIN/STEVOR families).
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Proteomics and genomics: perspectives on drug and target discovery.
PMID 18302945 · PMC2386992 · Current opinion in chemical biology · 2008 · 8 claims · 8 setups
Protein kinases account for approximately 25% of research and development projects in biotechnology and pharma
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KEGG spider: interpretation of genomics data in the context of the global gene metabolic network.
PMID 19094223 · PMC2646283 · Genome biology · 2008 · 8 claims · 8 setups
KEGG spider, using a global 'pathway-free' metabolic network framework, provides deeper insight into metabolism variations than existing enrichment-based methods.
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Proteomic and functional characterisation of platelet microparticle size classes.
PMID 19806257 · PMC2861410 · Thrombosis and haemostasis · 2009 · 8 claims · 8 setups
PMP separated by gel filtration into 4 size classes differ in protein content, phospholipid/protein ratio, and functional effects on platelets and endothelial cells
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MAPU: Max-Planck Unified database of organellar, cellular, tissue and body fluid proteomes.
PMID 17090601 · PMC1781136 · Nucleic acids research · 2007 · 8 claims · 8 setups
MAPU is a unified, freely accessible database integrating organellar, cellular, tissue and body fluid proteomes generated by high-resolution mass spectrometry.
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Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.
PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups
Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription