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 36

System / cell line: wild-type ✕ Assay: genotyping ✕ Clear

Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups

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No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers

peripheral pcr bacteremia pcr-rflp sequencing blood
Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups

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A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination

cattle bovine coli affinity-purified snp reverse cdna
A restricted spectrum of NRAS mutations causes Noonan syndrome.

PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups

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Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation

cohort cos-7 recombinant nras mutation western ras
Genomic variability within an organism exposes its cell lineage tree.

PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups

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Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.

robinia arabidopsis randomly genotyping multiplex computer
Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

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The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

genomic same pooled pcr-rflp pcr-based cross-tabulation
Analysis of variants in DNA damage signalling genes in bladder cancer.

PMID 18638378 · PMC2488326 · BMC medical genetics · 2008 · 7 claims · 5 setups

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SNPs in DSB signalling genes may modulate predisposition to bladder cancer and influence effects of environmental exposures

peripheral case-control unphased extracted snp confirmatory logistic
A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

PMID 19864672 · PMC2793117 · The New England journal of medicine · 2009 · 7 claims · 7 setups

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A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.

family patients peripheral-blood peripheral snp microsatellite sanger
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups

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Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice

yg22 tissues lysates sciatic breeding semiquantitative western
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups

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The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541

four-generation bfsp2 wild-type microsatellite direct denaturing
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
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

PMID 18334959 · PMC2268850 · Molecular vision · 2008 · 7 claims · 5 setups

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A homozygous c.955G>A mutation at the last base of exon 6 of LCA5 disrupts the normal splice donor site.

genomic lca5 lymphocyte affected snp sanger splice
Multiple K-ras mutations in hyperplasia and carcinoma in cases of human pancreatic carcinoma.

PMID 10543256 · PMC5926143 · Japanese journal of cancer research : Gann · 1999 · 7 claims · 6 setups

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K-ras codon 12 mutations are present in the majority of solid-type (85%) and ductectatic-type (73%) pancreatic carcinomas.

pancreatic mucous microdissected extracted k-ras histopathological microdissection
SNP identification in unamplified human genomic DNA with gold nanoparticle probes.

PMID 15659576 · PMC548375 · Nucleic acids research · 2005 · 8 claims · 5 setups

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A microarray-based method allows multiplex SNP genotyping in total human genomic DNA without target amplification or complexity reduction

unamplified genomic fragmented factor multiplex sequencing poly
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

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GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

palestinian genomic probands lymphoblasts targeted sanger pcr
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.

PMID 18614783 · PMC2518320 · The New England journal of medicine · 2008 · 7 claims · 5 setups

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A heterozygous frameshift mutation in NPPA (encoding atrial natriuretic peptide, ANP) causes familial atrial fibrillation

family plasma atria genome-wide fine exon
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups

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A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family

four-generation genomic crygd wild-type genotyping direct denaturing
Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors.

PMID 19888451 · PMC2766054 · PloS one · 2009 · 7 claims · 4 setups

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Somatic mutation frequency (%MSI) of 3'UTR microsatellites in MSI-H colorectal tumors correlates significantly with microsatellite length (r=0.86, p=7.2×10−13), following an exponential growth model.

msi-h computational rb1cc1 normal pcr nonlinear real-time
Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups

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The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016

peripheral allele-specific
Evolutionary repair: Changes in multiple functional modules allow meiotic cohesin to support mitosis.

PMID 32155147 · PMC7138332 · PLoS biology · 2020 · 8 claims · 8 setups

Has reproduction · 90

Replacing the mitotic kleisin Scc1 with the meiotic kleisin Rec8 impairs sister chromosome cohesion, advances genome replication timing, and reduces reproductive fitness by 45%.

cerevisiae parallel evolved rec8-expressing competitive experimental whole-genome
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups

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Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)

hypertensive lymphocytes βenac xenopus targeted pcr-rflp plasma

Experiments

Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Genomic variability within an organism exposes its cell lineage tree.

Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

Analysis of variants in DNA damage signalling genes in bladder cancer.

A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

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

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

Multiple K-ras mutations in hyperplasia and carcinoma in cases of human pancreatic carcinoma.

SNP identification in unamplified human genomic DNA with gold nanoparticle probes.

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors.

Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.

Evolutionary repair: Changes in multiple functional modules allow meiotic cohesin to support mitosis.

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.