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).

• Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.

  PMID 16502494 · PMC2687569 · Yonsei medical journal · 2006 · 8 claims · 6 setups

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  Two patients with congenital nephrogenic diabetes insipidus (NDI) presented with severe bilateral hydronephrosis, megaureter, and a distended bladder in the absence of any urinary tract obstruction.

  patients genomic fluid abdominal blood

• A high-temporal resolution technology for dynamic proteomic analysis based on 35S labeling.

  PMID 18714357 · PMC2500177 · PloS one · 2008 · 6 claims · 6 setups

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  35S pulse-labeling (phosphor-imaging) detects more protein spots with higher sensitivity than CBB staining on the same 2-DE gels

  a549 liver 35s electrophoresis paired

• Spatial separation and bidirectional trafficking of proteins using a multi-functional reporter.

  PMID 18384686 · PMC2359743 · BMC cell biology · 2008 · 8 claims · 8 setups

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  β1Int-HaloTag fusion protein localizes to the cell membrane in a pattern similar to endogenous β1 integrin, indicating the fusion does not disrupt normal integrin surface expression

  hela hek293 live immunocytochemistry live fluorescence

• 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

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  Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings

  blood hek293a bosc serum sanger calcium confocal

• mitoXplorer, a visual data mining platform to systematically analyze and visualize mitochondrial expression dynamics and mutations.

  PMID 31799603 · PMC6954439 · Nucleic acids research · 2020 · 5 claims · 5 setups

  Has reproduction · 89

  mitoXplorer integrates transcriptome, proteome, and mutation data with a manually curated mitochondrial interactome of ~1200 genes grouped into 38 mitochondrial processes across four model species.

  rpe-1 trisomic rpe yeast bulk proteomics mitotracker

• Irisin ameliorates obesity and insulin resistance via adipose tissue IL-33 and regulatory T cells.

  PMID 41933175 · PMC13052164 · Nature metabolism · 2026 · 8 claims · 8 setups

  Has reproduction · 48

  Irisin modulates adipose tissue inflammation by increasing IL-33 production and preserving ST2+ regulatory T cells in white adipose tissues, thereby improving obesity and glucose intolerance.

  4-week-old hfd-fed bat iwat aav8-mediated body intraperitoneal

• A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

  PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups

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  NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay

  leukocyte peripheral serum plasma gene enzyme chitotriosidase

• 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

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  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.

  serum pituitary-thyroid thyroid sellar thyroid trh magnetic

• BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

  PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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  BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

  peripheral blood-derived folliculin chest direct subcloning sequence

• Neuropixels Opto: combining high-resolution electrophysiology and optogenetics.

  PMID 42225964 · PMC13259958 · Nature methods · 2026 · 8 claims · 7 setups

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  Neuropixels Opto probes integrate 960 recording sites and two sets of 14 light emitters (blue and red) on a 70-μm-wide, 1-cm-long shank via monolithic CMOS+photonics integration

  neuropixels test visual hippocampus electrode optical light

• Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

  PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

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  The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

  genomic proband blood patients pcr long-range combined

• X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

  PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups

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  A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.

  affected family patients pedigree sanger pcr-based endocrine

• Comparative profiling of skeletal muscle models reveals heterogeneity of transcriptome and metabolism.

  PMID 31825657 · PMC7099524 · American journal of physiology. Cell physiology · 2020 · 8 claims · 8 setups

  Has reproduction · 64

  C2C12 myotubes show enriched mRNA expression of genes coding for actin and myosin compared with L6 and HSMC.

  c2c12 transcriptomic glucose glycogen

• Progressive nonfluent aphasia associated with a new mutation V363I in tau gene.

  PMID 17712160 · PMC10846119 · American journal of Alzheimer's disease and other dementias · 2007 · 7 claims · 5 setups

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  A novel heterozygous MAPT mutation (2274 G→A, exon 12, causing V363I) was identified in the proband, 2 of 3 tested children, and 1 sibling, but not in 194 healthy control individuals from the same population.

  genomic proband proband's pcr tau neuropsychological

• Endurance exercise as a countermeasure for aging.

  PMID 18716044 · PMC2570389 · Diabetes · 2008 · 8 claims · 8 setups

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  Reduced insulin sensitivity with age is likely related to adiposity and physical inactivity rather than being an inevitable consequence of aging.

  vastus mitochondria mitochondrial extracted euglycemic-hyperinsulinemic mitochondrial citrate

• Incorporating genetics and genomics in risk assessment for inhaled manganese: from data to policy.

  PMID 19646473 · PMC2765692 · Neurotoxicology · 2009 · 8 claims · 7 setups

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  Inhaled manganese bypasses normal homeostatic regulation and can accumulate in the brain, unlike dietary manganese which is readily excreted

  occupationally residents mn-exposed marietta biological postural rflp

• The secrets of a functional synapse--from a computational and experimental viewpoint.

  PMID 16723009 · PMC1810317 · BMC bioinformatics · 2006 · 8 claims · 8 setups

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  Kinesin motor proteins move cargo along axonal microtubules to the synapse, with cargo specificity determined by adaptor/linker proteins rather than lipid recognition

  mammalian kinesin cholinergic dendrites kinesin sequence-based comparative