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 14

System / cell line: buccal ✕ Assay: genotype ✕ Clear

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

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TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

arci unrelated dog direct sequence blast
The incentive salience of alcohol: translating the effects of genetic variant in CNR1.

PMID 18606956 · PMC2856651 · Archives of general psychiatry · 2008 · 7 claims · 6 setups

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The C allele of rs2023239 is associated with greater CB1 receptor binding in the prefrontal cortex

postmortem buccal heavy moderate-to-heavy receptor snp functional
Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

PMID 15598343 · PMC544190 · BMC genetics · 2004 · 6 claims · 4 setups

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A novel TaqMan allelic discrimination assay can reliably genotype the MnSOD -102C>T SNP from diverse DNA sources including blood, buccal swabs, frozen tissue, and paraffin blocks.

genomic paraffin-embedded taqman pcr-restriction automated
Improved weight management using genetic information to personalize a calorie controlled diet.

PMID 17945020 · PMC2151062 · Nutrition journal · 2007 · 7 claims · 4 setups

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Personalizing a weight-management diet using nutrigenetic test results improves long-term BMI reduction and weight loss maintenance compared to a standard diet.

buccal patients serum genotyping case-control fasting
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups

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An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)

genomic arci pcr clinical pedigree
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
Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

PMID 17672902 · PMC1950089 · BMC medical genetics · 2007 · 8 claims · 6 setups

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The major APOE haplotype (Hap1) is significantly associated with SAH

caucasian same genomic snp rflp genome
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

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Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

genomic hair-root reference patients pcr screening multi-tissue
Synergistic effects of the MTHFR C677T polymorphism and hypertension on spatial navigation.

PMID 19013496 · PMC2685204 · Biological psychology · 2009 · 7 claims · 4 setups

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Hypertensive carriers of the MTHFR 677T allele show significantly worse spatial navigation (longer distance to platform) than hypertensive C677C homozygotes

healthy same buccal virtual blood mthfr
Individual and additive effects of the CNR1 and FAAH genes on brain response to marijuana cues.

PMID 20010552 · PMC2820137 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2010 · 6 claims · 4 setups

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Carriers of the CNR1 rs2023239 G allele show significantly greater neural activation to marijuana cues than A/A homozygotes in reward-related regions (OFC, IFG, insula, ACG).

three-day-abstinent marijuana buccal fmri genotyping
Polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) and peptide transporter 2 (PEPT2) genes in children with low-level lead exposure.

PMID 19723536 · PMC2789866 · Neurotoxicology · 2009 · 7 claims · 3 setups

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Children homozygous for the PEPT2*2 polymorphism have significantly higher blood lead levels than heterozygous or non-carrier children.

mexican-american buccal parents blood genetic demographic
CCL genes in multiple sclerosis and systemic lupus erythematosus.

PMID 18602166 · PMC5301077 · Journal of neuroimmunology · 2008 · 7 claims · 5 setups

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Previously suggested borderline CCL marker/haplotype associations with MS are rejected after Bonferroni correction for multiple testing

genomic patients 17q11.2-q12 buccal snp linkage hardy-weinberg
Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans.

PMID 16478714 · PMC1368655 · Nucleic acids research · 2006 · 7 claims · 6 setups

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SNP-MaP allele frequency estimates from pooled DNA on the 100K microarray set correlate strongly with allele frequencies from individual genotyping

pooled single same caucasian snp individual quantification
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups

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CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID

ebv-transformed genomic father peripheral intracellular snp sequencing

Experiments

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

The incentive salience of alcohol: translating the effects of genetic variant in CNR1.

Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

Improved weight management using genetic information to personalize a calorie controlled diet.

Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

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

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Synergistic effects of the MTHFR C677T polymorphism and hypertension on spatial navigation.

Individual and additive effects of the CNR1 and FAAH genes on brain response to marijuana cues.

Polymorphisms of delta-aminolevulinic acid dehydratase (ALAD) and peptide transporter 2 (PEPT2) genes in children with low-level lead exposure.

CCL genes in multiple sclerosis and systemic lupus erythematosus.

Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans.

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.