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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A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups
A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.
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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.
PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups
Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes
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Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
PMID 8879195 · PMC2192830 · The Journal of experimental medicine · 1996 · 6 claims · 8 setups
The patient is a compound heterozygote for a p67-phox gene mutation: an in-frame deletion of lysine 58 on one allele and an 11-13 kb genomic deletion on the other allele.
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Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.
PMID 18955570 · PMC2585845 · The Journal of experimental medicine · 2008 · 7 claims · 8 setups
Familial primary PAP is caused by compound heterozygous mutations in CSF2RA: a paternal G174R point mutation and a maternal 1.6-Mb deletion at Xp22.33 encompassing CSF2RA.
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Analysis of proteomic profiles and functional properties of human peripheral blood myeloid dendritic cells, monocyte-derived dendritic cells and the dendritic cell-like KG-1 cells reveals distinct characteristics.
PMID 17331236 · PMC1868942 · Genome biology · 2007 · 8 claims · 8 setups
moDCs and KG-1 cells show significant proteomic differences from primary mDCs, particularly in proteins involved in cell growth/maintenance and cell-cell interaction/integrity.
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Has reproduction · 71
IL-6 trans-Signaling Regulates Neutrophilic Inflammation in Alcohol-Associated Hepatitis.
PMID 40562277 · PMC13168973 · The American journal of pathology · 2026 · 8 claims · 8 setups
Hepatic IL-6R expression progressively declines with increasing severity of alcohol-related liver disease, from normal to early ASH to nonsevere and severe AH