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).

• Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

  PMID 18580586 · PMC2750842 · Alzheimer disease and associated disorders · 2008 · 8 claims · 8 setups

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  The PSEN1 N135S mutation causes EOFAD with an atypical phenotype including spastic dysarthria, limb spasticity, and seizures in addition to typical cognitive deficits

  archival medulla cortex hippocampus immunohistochemistry thioflavin-s pcr

• Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.

  PMID 8957064 · PMC5921002 · Japanese journal of cancer research : Gann · 1996 · 6 claims · 4 setups

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  Both components of combined hepatocellular-cholangiocellular carcinoma share the same genetic and phenotypic character and may arise from the same origin in some cases

  formalin-fixed combined pcr-based allelotype immunohistochemistry

• Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

  PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups

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  SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4

  spsma spsma-affected hek293 candidate histopathology confocal

• A spectrum of severe familial liver disorders associate with telomerase mutations.

  PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

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  Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

  leukocyte leukocytes reconstitution liver sanger flow telomerase

• Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

  PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups

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  Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles

  sids hek293 pcr whole-cell

• The identification of a Distinct Astrocyte Subtype that Diminishes in Alzheimer's Disease.

  PMID 38502590 · PMC11567244 · Aging and disease · 2024 · 7 claims · 6 setups

  Has reproduction · 57

  A distinct astrocyte subpopulation marked by low GFAP, plus AQP4 and CD63 expression, exists in normal brain but is diminished in AD samples in both human and mouse.

  prefrontal snrna-seq frontal brain single-nuclei gene cell-cell

• Genome-scale approaches to the epigenetics of common human disease.

  PMID 19844740 · PMC3107986 · Virchows Archiv : an international journal of pathology · 2010 · 7 claims · 8 setups

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  DNA methylation is a stable, mitotically heritable epigenetic mark faithfully propagated by DNMT1 acting on hemimethylated DNA during replication

  autopsy colorectal colon genomic charm quantitative bisulfite

• New genes, new dilemmas: FTLD genetics and its implications for families.

  PMID 18166610 · PMC10846215 · American journal of Alzheimer's disease and other dementias · 2007 · 8 claims · 8 setups

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  MAPT and PGRN mutations account for the largest number of familial FTLD cases and differ fundamentally in disease mechanism

  familial ftld postmortem ftld-u genetic mutation neuropathological

• Analysis of human sarcospan as a candidate gene for CFEOM1.

  PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups

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  Sarcospan sequence is unmutated in all six CFEOM1 families studied

  yac genomic extraocular genome pcr direct immunofluorescence

• Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

  PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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  Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

  hispanic hmfs001 family genomic clinical echocardiography ophthalmologic

• Qualitative Transcriptional Signature for the Pathological Diagnosis of Pancreatic Cancer.

  PMID 33173782 · PMC7538791 · Frontiers in molecular biosciences · 2020 · 8 claims · 7 setups

  Has reproduction · 71

  A 12-gene-pair (17-gene) REO-based signature discriminates PC and cancer-adjacent normal tissue from non-tumor (healthy/pancreatitis) pancreatic tissue.

  pancreatic normal pooled microarray rna-sequencing roc