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).

Publications 1.3k Datasets 392.5k Experiments 5

System / cell line: unaffected ✕ Assay: immunofluorescence ✕ Clear

Novel mutations in GJA1 cause oculodentodigital syndrome.

PMID 18946008 · PMC2588666 · Journal of dental research · 2008 · 8 claims · 3 setups

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Heterozygous missense mutations in GJA1 were found in all analyzed ODD-affected individuals across ten unrelated families

odd wild-type pups pcr immunofluorescence
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups

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c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one

peripheral cos-7 direct confocal co-localization
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

family sural nefl-null sw-13 clinical genetic immunohistochemistry
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
Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.

PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups

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The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.

lines genomic 293hek rt-pcr genomic indirect

Experiments

Novel mutations in GJA1 cause oculodentodigital syndrome.

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Analysis of human sarcospan as a candidate gene for CFEOM1.

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.