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 10

System / cell line: parental ✕ Assay: direct ✕ Clear

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups

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All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix

dermal skeletal fibroblast confluent rt-pcr immunohistochemistry biosynthetic
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups

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Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series

parental genomic anonymized peripheral microsatellite direct mutation
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups

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Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)

genomic kidney blood kidneys direct parental renal
Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

PMID 18955805 · PMC2580002 · Journal of Korean medical science · 2008 · 8 claims · 1 setups

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The patient is a compound heterozygote for CFTR mutations c.263T>G (p.Leu88X) in exon 3 and c.2089-2090insA (p.Arg697LysfsX33) in exon 13

peripheral direct
DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.

PMID 15550986 · PMC529316 · PLoS biology · 2004 · 8 claims · 3 setups

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The human MHC methylation profile is strongly bimodal, with the vast majority of analysed regions being either hypo- (≤30%) or hypermethylated (≥70%)

mhc subset heterogeneously bisulphite maldi-ms sub-cloning
Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.

PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups

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MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors

proband's peripheral hmsh2 microsatellite direct targeted
A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups

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The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.

propositus relatives serologic allele-specific haplotype-specific
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

PMID 18053270 · PMC2222245 · BMC medical genetics · 2007 · 8 claims · 6 setups

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PITX1 polymorphisms and haplotypes are significantly associated with autism

agre pitx1 parental family-based extended haplotype
Evidence of recombination in Hepatitis C Virus populations infecting a hemophiliac patient.

PMID 19922637 · PMC2784780 · Virology journal · 2009 · 7 claims · 6 setups

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A new intragenotypic recombinant HCV strain (1b/1a), named H23, was detected in 1 of 10 hemophiliac patients studied

hcv 5'ncr serum maximum sequence recombination
Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.

PMID 17012280 · PMC1636463 · Nucleic acids research · 2006 · 7 claims · 5 setups

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DSBs induced at the TRS/vector junction (EcoRV site) generate numerous mutagenic events in flanking sequences, whereas DSBs within the repeat tract (EcoRI site) produce no such mutants

coli plasmids plasmid white plasmid sequencing non-b

Experiments

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.

Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.

A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

Evidence of recombination in Hepatitis C Virus populations infecting a hemophiliac patient.

Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.