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).

• Stem cell-associated osteogenic deficiency causes craniofacial deformities with progeroid accumulation of prelamin A.

  PMID 41632539 · PMC13041684 · JCI insight · 2026 · 8 claims · 8 setups

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  Lmna L648R mutation causes multiple suture craniosynostosis (AF, PF, COR) occurring under low bone density, contrasting with conventional synostosis caused by excessive ossification

  skull calvarial suture p7-p10 micro-ct h&e brdu

• Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

  PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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  ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

  pfm selected point-mutation-negative family dhplc bidirectional multiplex

• Leber's hereditary optic neuropathy--case report and literature review.

  PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups

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  Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON

  peripheral left optic visual pcr muscle visual

• The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

  PMID 17449949 · PMC2693607 · Journal of Korean medical science · 2007 · 7 claims · 5 setups

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  This is the first reported Korean case of Beare-Stevenson syndrome.

  peripheral pcr infant forearm pcr-direct agarose brain

• Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice.

  PMID 41574606 · PMC12892883 · JCI insight · 2026 · 8 claims · 8 setups

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  Chondrocyte-specific (Col2a1-Cre-driven) expression of the p.R594H Trpv4 mutation reproduces the human TRPV4 skeletal dysplasia phenotype in mice, including short stature, long bone and craniofacial abnormalities, and vertebral defects.

  col2a1-cre proximal growth cervical radiography histology rnascope

• α4 Integrin blockade impairs CD8+ T cell neuroimmune surveillance following SIV infection.

  PMID 41734020 · PMC13078879 · The Journal of clinical investigation · 2026 · 8 claims · 8 setups

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  α4 blockade preserves CD4+ Th1 cell access to brain parenchyma but impairs CD8 effector recruitment, disrupting antiviral control

  siv-infected live macaque cd4-δitga4 flow antibody single-cell

• Duvernoy's Gland Transcriptomics of the Plains Black-Headed Snake, Tantilla nigriceps (Squamata, Colubridae): Unearthing the Venom of Small Rear-Fanged Snakes.

  PMID 34066626 · PMC8148590 · Toxins · 2021 · 8 claims · 5 setups

  Has reproduction · 97

  The T. nigriceps Duvernoy's gland transcriptome is dominated by three toxin families: three-finger toxins (3FTxs), cysteine-rich secretory proteins (CRISPs), and snake venom metalloproteinases (SVMPIIIs)

  duvernoy's nigriceps rna-seq differential extraction