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).

• Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

  PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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  TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

  families affected tmc1 tjp2 genetic sequencing multiplex

• Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

  PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups

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  Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1

  family genomic xenopus patients genome-wide pcr glucose

• 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

• A third approach to gene prediction suggests thousands of additional human transcribed regions.

  PMID 16543943 · PMC1391917 · PLoS computational biology · 2006 · 8 claims · 7 setups

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  A third basic concept for gene prediction exists, based on detecting strand-specific 'transcription footprints' (mutational and selectional biases) rather than gene structure or sequence similarity.

  genome 4.4-mb known nucleotide repeat polyadenylation

• 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