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: sites ✕ Assay: rflp ✕ Clear

High-density SNP genotyping to define beta-globin locus haplotypes.

PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups

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RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus

genomic rflp subset rflp high-density haploview
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups

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Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree

genomic family myoc pcr-rflp sequencing clinical
Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India.

PMID 19956544 · PMC2780726 · PloS one · 2009 · 8 claims · 6 setups

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Interaction between VDR and HLA alleles is mediated by a VDRE present in the promoter region of HLA-DRB1*0301, which may be detrimental in the absence of 1,25-(OH)2D3 in early childhood.

blood genotype hla-drb1*0301 drb1*0301-carrying pcr-rflp pcr haplotype
Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations.

PMID 15984912 · PMC1166350 · PLoS biology · 2005 · 8 claims · 6 setups

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Most mtDNA lineages in Taiwanese aboriginal populations are distinct from those in China and the Taiwan Han population, consistent with descent from the island's initial late Pleistocene settlers

indigenous b4a-lineage southeast populations mtdna complete rflp
V-MitoSNP: visualization of human mitochondrial SNPs.

PMID 16907992 · PMC1564046 · BMC bioinformatics · 2006 · 6 claims · 4 setups

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V-MitoSNP integrates RFLP genotyping information with mitochondria-related cancer/disease data in a user-friendly, interactive, color-coded visual web interface

blood blood-derived mtdna standard agarose rflp
Differentiating human from animal isolates of Cryptosporidium parvum.

PMID 9866750 · PMC2640237 · Emerging infectious diseases · 1998 · 7 claims · 5 setups

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Two distinct genotypes of C. parvum (human/anthroponotic and bovine/zoonotic) exist, distinguishable by TRAP-C2 gene sequence differences at five nucleotide positions.

parvum cloned aligned fecal pcr pcr-rflp sequencing
Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups

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A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.

bone fibroblast 32d.cl8.6 32d rt-pcr genomic flow
Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups

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A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.

asian random subjects unrelated arms-pcr msei sanger
Mutation analysis of the MDM4 gene in German breast cancer patients.

PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups

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Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients

german bilateral mdm4 lymphoid direct rflp-based splice
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups

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Mutations in USH2A are responsible for most cases of USH2

genomic family probands ush2a direct restriction single
Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups

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A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.

genomic hek293 m17 south sscp dual-luciferase pcr-rflp
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 novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.

PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups

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A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing

blood variant patients same sscp sanger pcr-rflp
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

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Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

genomic pcr-amplified reep1 pcr dhplc direct
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups

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The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer

breast tumour sscp exon-by-exon southern
Prevalence of A2143G mutation of H. pylori-23S rRNA in Chinese subjects with and without clarithromycin use history.

PMID 18507832 · PMC2427034 · BMC microbiology · 2008 · 7 claims · 6 setups

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A2143G point mutation of the H. pylori 23S rRNA gene causes clarithromycin resistance

fasting subjects serum pylori pcr 13c-urea elisa

Experiments

High-density SNP genotyping to define beta-globin locus haplotypes.

Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India.

Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations.

V-MitoSNP: visualization of human mitochondrial SNPs.

Differentiating human from animal isolates of Cryptosporidium parvum.

Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

Mutation analysis of the MDM4 gene in German breast cancer patients.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

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

A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

Prevalence of A2143G mutation of H. pylori-23S rRNA in Chinese subjects with and without clarithromycin use history.