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 128

System / cell line: sequence ✕ Assay: restriction ✕ Clear

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

genomic pcr proband restriction sscp automated
CapsID: a web-based tool for developing parsimonious sets of CAPS molecular markers for genotyping.

PMID 16686952 · PMC1471797 · BMC genetics · 2006 · 7 claims · 1 setups

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CapsID identifies snip-SNPs (SNPs that alter restriction endonuclease recognition sites) within reference sequence alignments and designs PCR primers around them

sequence restriction
Thirty years into the genomics era: tumor viruses led the way.

PMID 17940630 · PMC1994808 · The Yale journal of biology and medicine · 2006 · 8 claims · 8 setups

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Restriction endonuclease-based analysis and sequencing of small tumor virus genomes (SV40, phiX174) established the technical framework later used to sequence bacterial and human genomes

sv40 bacteriophage epstein-barr aids-associated restriction recombinant sequencing
The DNA sequence of the human X chromosome.

PMID 15772651 · PMC2665286 · Nature · 2005 · 8 claims · 8 setups

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The euchromatic sequence of the human X chromosome was determined to 99.3% completeness (~155 Mb total)

pac selected chromosome clone-based shotgun comparative
DNA sequence and analysis of human chromosome 9.

PMID 15164053 · PMC2734081 · Nature · 2004 · 8 claims · 8 setups

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The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs, representing >99.6% of the region.

bac chromosome fibres chimpanzee clone-based restriction computational
Restriction landmark genomic scanning (RLGS) spot identification by second generation virtual RLGS in multiple genomes with multiple enzyme combinations.

PMID 18053125 · PMC2235865 · BMC genomics · 2007 · 7 claims · 4 setups

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A second-generation virtual RLGS (vRLGS) system predicts DNA fragment migration using sequence characteristics plus fragment length, and is applicable to any sequenced genome and enzyme combination

peripheral genome restriction virtual
Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.

PMID 17456229 · PMC1868706 · BMC medical genetics · 2007 · 7 claims · 4 setups

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No mutations were identified in the VEGFR2 gene (exons 7, 18, 21, 27, promoter, or 5' UTR) in ALS patients

genomic pcr als direct restriction allele
Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors.

PMID 17442112 · PMC1863428 · BMC cancer · 2007 · 7 claims · 5 setups

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CYYR1 mRNA undergoes a 'subtle' alternative splicing event generating two isoforms (CAG- and CAG+) differing by a single alanine codon at the exon3/exon4 junction

neuroendocrine tumors normal cyyr1 rt-pcr quantitative psti
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

PMID 18237401 · PMC2276215 · Lipids in health and disease · 2008 · 8 claims · 4 setups

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Two distinct heterozygous frameshift mutations in CAV1 (I134fsdelA-X137 and -88delC) were identified in patients with atypical partial lipodystrophy and severe hypertriglyceridemia

genomic sequence restriction allele-specific
Sequence variations of GRM6 in patients with high myopia.

PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

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Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls

genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups

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A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members

peripheral pcr-amplified patients serum nucleotide restriction serum
MitoVariome: a variome database of human mitochondrial DNA.

PMID 19958475 · PMC2788364 · BMC genomics · 2009 · 8 claims · 5 setups

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MitoVariome is a web-based, integrated variome database for human mitochondrial DNA that unifies sequence variation, haplogroup, and disease annotation information not jointly available in prior databases (MITOMAP, mtDB, Mitome, MitoRes).

mitochondrial korean sequence short restriction
Caloric Restriction Reprograms Adipose Tissues in Rhesus Monkeys.

PMID 41042069 · PMC12686577 · Aging cell · 2025 · 8 claims · 8 setups

Has reproduction · 66

At baseline, SAT and VAT transcriptomes are highly similar, with only ~1% of genes (30 genes, adjusted p<0.05) differentially expressed between depots in Controls

subcutaneous sat rhesus bulk gsea xcell
Strong population differentiation in lingcod (Ophiodon elongatus) is driven by a small portion of the genome.

PMID 33294007 · PMC7691466 · Evolutionary applications · 2020 · 7 claims · 8 setups

Has reproduction · 84

Lingcod comprise two distinct genetic clusters separated latitudinally at a break near Point Reyes off Northern California, with a high frequency of admixed individuals near the break.

ophiodon single lingcod subset radseq genome bayesian
Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.

PMID 9099956 · PMC2222800 · British journal of cancer · 1997 · 8 claims · 7 setups

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No sequence mutations were found in the MTHFR gene in ovarian tumors and cell lines despite extensive SSCP screening

ovarian non-mucinous informative rt-pcr immunohistochemistry pcr-rflp
The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.

PMID 12361482 · PMC131051 · BMC genetics · 2002 · 8 claims · 7 setups

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The human TDH gene is located at chromosome 8p23-22, spans 10 kb, and has 8 exons that would be expected to encode a 369-residue ORF.

genomic predicted cdna tissues genomic sequence pcr
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups

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The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.

bac heart ccs genomic genomic rt-pcr transcription
Zinc finger nucleases: custom-designed molecular scissors for genome engineering of plant and mammalian cells.

PMID 16251401 · PMC1270952 · Nucleic acids research · 2005 · 8 claims · 8 setups

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ZFNs combining the FokI nuclease domain with custom zinc finger proteins can deliver site-specific double-strand breaks to plant and mammalian genomes.

foki zif268-derived coli zfns limited foot-printing x-ray
Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.

PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups

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Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing

genomic anonymized dried pcr-restriction direct molecular
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PMID 18400097 · PMC2322962 · BMC medical genetics · 2008 · 7 claims · 5 setups

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A novel heterozygous/homozygous KCNQ1 mutation, T322M (C965T, exon 7), was identified in a Chinese family with both RWS and JLNS

genomic family direct pcr restriction

Experiments

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

CapsID: a web-based tool for developing parsimonious sets of CAPS molecular markers for genotyping.

Thirty years into the genomics era: tumor viruses led the way.

The DNA sequence of the human X chromosome.

DNA sequence and analysis of human chromosome 9.

Restriction landmark genomic scanning (RLGS) spot identification by second generation virtual RLGS in multiple genomes with multiple enzyme combinations.

Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.

Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors.

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

Sequence variations of GRM6 in patients with high myopia.

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

MitoVariome: a variome database of human mitochondrial DNA.

Caloric Restriction Reprograms Adipose Tissues in Rhesus Monkeys.

Strong population differentiation in lingcod (Ophiodon elongatus) is driven by a small portion of the genome.

Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.

The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

Zinc finger nucleases: custom-designed molecular scissors for genome engineering of plant and mammalian cells.

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.