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 16

System / cell line: coding ✕ Assay: pcr-rflp ✕ Clear

Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.

PMID 15563733 · PMC544357 · BMC biotechnology · 2004 · 8 claims · 6 setups

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A single-track sequencing (SSR) strategy on one PCR product can simultaneously address 24 genetic variants in the NAT1 gene using paired terminator tracks (A/G for coding region, A/T for 3' flanking region)

genomic nat1 same pcr single-track single
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
A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups

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A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.

genomic proband pcr pcr-rflp bone
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
A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups

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A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.

genomic excised left pcr pcr-restriction histopathology
Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.

PMID 12546713 · PMC149362 · BMC genetics · 2003 · 8 claims · 7 setups

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PIGR is a nasopharyngeal cancer susceptibility gene

genomic npc genotype pcr-rflp arms case-control
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups

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A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.

brain peripheral sk-nsh-n genomic rt-pcr direct snp
A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

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A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1

peripheral genomic pcr direct pcr rflp
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups

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Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype

blood a1555g lymphoblastoid nuclear pcr-rflp direct rt-pcr
Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

PMID 18820594 · PMC2905378 · Pharmacogenetics and genomics · 2008 · 7 claims · 8 setups

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The tRNA-Thr G15927A mutation has a potential modifier role that increases penetrance and expressivity of A1555G-associated deafness.

blood genomic lymphoblastoid same pcr-rflp mitochondrial northern
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

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Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

genomic frozen skeletal korean direct rt-pcr-based pcr-restriction
PRLTS gene alterations in human prostate cancer.

PMID 9197531 · PMC5921422 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 3 setups

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LOH at the PRLTS gene locus is a relatively common abnormality in prostate cancer

tumor metastatic loh pcr-sscp sequencing
ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

genomic red computational abo sequencing blood
CNGA3 mutations in two United Arab Emirates families with achromatopsia.

PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups

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Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val

achromatopsia genomic hek293 clinical pcr segregation
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.

PMID 18806880 · PMC2538492 · Molecular vision · 2008 · 8 claims · 4 setups

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A novel heterozygous 1493A>T mutation in exon 7 of KRT3, predicting E498V, was identified as the cause of MCD in this family

cornea genomic slit-lamp confocal pcr
A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation.

PMID 14521712 · PMC212228 · Molecular cancer · 2003 · 6 claims · 5 setups

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Pro582Ser is a common HIF-1α ODD-domain polymorphism occurring at similar frequency in idiopathic erythrocytosis patients (0.109) and normal controls (0.073)

genomic recombinant 35s-labeled sanger pcr-rflp gst

Experiments

Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.

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

A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

Sequence variations of GRM6 in patients with high myopia.

A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.

TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

PRLTS gene alterations in human prostate cancer.

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.

A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation.