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).

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

  PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

  Full-text index only

  Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

  cmt2c affected spinal drg genetic sanger quantitative

• RNA Editing Alterations Define Disease Manifestations in the Progression of Experimental Autoimmune Encephalomyelitis (EAE).

  PMID 36429012 · PMC9688714 · Cells · 2022 · 7 claims · 7 setups

  Has reproduction · 37

  RNA-editing events mediated by APOBEC and ADAR deaminases are significantly reduced throughout the course of EAE disease progression

  brain rna-edited brain-isolated naïve rna-seq pathway pcr

• Vascular adhesion protein-1 defines a unique subpopulation of human hematopoietic stem cells and regulates their proliferation.

  PMID 34719737 · PMC8629906 · Cellular and molecular life sciences : CMLS · 2021 · 7 claims · 8 setups

  Has reproduction · 50

  VAP-1 is expressed on a subset of human HSC and on bone marrow vasculature forming a hematogenic niche

  bone sorted cord femur flow bulk single-cell

• Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

  PMID 18424447 · PMC2465800 · Human molecular genetics · 2008 · 6 claims · 8 setups

  Full-text index only

  Nonsense-mediated mRNA decay (NMD) degrades mutant SOD1 mRNA carrying a PTC in non-terminal exons (1-4), explaining why ALS-associated PTC mutations are found only in exon 5

  transgenic nih hsod1 lumbar southern northern rt-pcr

• Developing a novel immune infiltration-associated mitophagy prediction model for amyotrophic lateral sclerosis using bioinformatics strategies.

  PMID 38601155 · PMC11005030 · Frontiers in immunology · 2024 · 7 claims · 6 setups

  Has reproduction · 71

  An 18-gene mitophagy-related prognostic signature was identified by machine learning and used to build a prognostic risk score model for ALS.

  peripheral als lumbar bulk cibersort gsea