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 7

System / cell line: members ✕ Assay: southern ✕ Clear

Spinocerebellar ataxia type 23: a genetic update.

PMID 19089525 · PMC2694919 · Cerebellum (London, England) · 2009 · 8 claims · 6 setups

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The SCA23 disease locus maps to chromosome 20p13-12.3, spanning ~6 Mb and containing 97 known/predicted genes.

members post-mortem candidate coding genome-wide neuropathological southern
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

peripheral genomic convalescent cdna genomic breakpoint-spanning
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups

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Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.

unrelated lca genomic allele-specific bidirectional electroretinogram
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

PMID 18197425 · PMC2259258 · Pediatric nephrology (Berlin, Germany) · 2008 · 8 claims · 7 setups

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Genome-wide linkage analysis identifies several novel loci for primary VUR on chromosomes 1, 3, 4, and 22, supporting genetic heterogeneity.

patients multiplex index pedigree genome-wide fine-mapping haplotype
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups

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A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T

genomic family chromosomes hela dgge oligonucleotide restriction
Mutations in NYX of individuals with high myopia, but without night blindness.

PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups

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Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.

unrelated individuals high model direct sequencing electroretinogram
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups

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Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family

hek immunoprecipitated tsc2 peripheral coimmunoprecipitation rheb s6k-t389

Experiments

Spinocerebellar ataxia type 23: a genetic update.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Mutations in NYX of individuals with high myopia, but without night blindness.

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.