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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Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups
SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran
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Has reproduction
Developing a thyroid cancer differentiation state classification system using deep residual networks and metabolic signature profiling.
PMID 40993300 · PMC12460824 · NPJ digital medicine · 2025 · 8 claims · 8 setups
Metabolic status is closely tied to tumor differentiation state, with distinct metabolic reprogramming occurring during thyroid cancer dedifferentiation
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Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.
PMID 18363280 · PMC2686955 · The Korean journal of internal medicine · 2008 · 8 claims · 7 setups
The patient's resistance to thyroid hormone (RTH) was caused by a novel missense mutation (V349M, c.1045G>A) in exon 11 of the TRβ gene, the first such case reported in Korea.
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p53 gene mutations associated with anaplastic transformation of human thyroid carcinomas.
PMID 1483945 · PMC5918745 · Japanese journal of cancer research : Gann · 1992 · 6 claims · 4 setups
p53 gene mutations were found in 2 of 9 anaplastic thyroid carcinomas by RNase protection analysis and confirmed by DNA sequencing
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BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas.
PMID 17453004 · PMC2359941 · British journal of cancer · 2007 · 8 claims · 4 setups
BRAF V600E mutation was found in 4 of 20 (20%) anaplastic thyroid carcinomas overall
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Human Proteinpedia: a unified discovery resource for proteomics research.
PMID 18948298 · PMC2686511 · Nucleic acids research · 2009 · 8 claims · 8 setups
Human Proteinpedia is a community portal using a distributed annotation system (DAS) to share both published and unpublished human proteomic data
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CD70 (TNFSF7) is expressed at high prevalence in renal cell carcinomas and is rapidly internalised on antibody binding.
PMID 16892042 · PMC2360640 · British journal of cancer · 2006 · 6 claims · 6 setups
CD70 was identified by proteomic analysis of plasma membrane preparations as highly expressed in A498 and SW839 RCC-derived cell lines
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Reconstruction of pathways associated with amino acid metabolism in human mitochondria.
PMID 18267298 · PMC5054205 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 5 setups
Out of 20 amino acids, the metabolic pathways of 17 utilize mitochondrial enzymes, and dysfunction of these enzymes causes over 40 known human mitochondrial diseases/disorders
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups
GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.
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Positive selection for the male functionality of a co-retroposed gene in the hominoids.
PMID 19832993 · PMC2773790 · BMC evolutionary biology · 2009 · 8 claims · 8 setups
PIPSL is an extraordinary co-retroposed protein-coding gene that may participate in male-specific functions of humans and close relatives
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Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.
PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups
A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.