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 22

System / cell line: genotyping ✕ Assay: dhplc ✕ Clear

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

PMID 18977788 · PMC2743849 · The British journal of ophthalmology · 2009 · 7 claims · 5 setups

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ABCA4 carrier-frequency-based prevalence estimates of arSTGD (1:1000 and 1:870) are substantially higher than the previously reported phenotypic prevalence of 1:10,000

healthy spanish arstgd denaturing-hplc abcr400 direct
Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups

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Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts

european african individuals nondiabetic snp variant direct
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups

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Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)

genomic somali sri ethnically dhplc snp sanger
ATM variants and cancer risk in breast cancer patients from Southern Finland.

PMID 16914028 · PMC1592307 · BMC cancer · 2006 · 8 claims · 6 setups

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Neither 5557G>A nor ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk in any patient group

familial brca1 same genotype genotyping denaturing direct
Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

genomic healthy irish case mutation direct taqman
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
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

pfm selected point-mutation-negative family dhplc bidirectional multiplex
BCoR-L1 variation and breast cancer.

PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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BCoR-L1 expression does not play a large role in predisposition to familial breast cancer

genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr
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
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups

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A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family

affected family blood frmd7 microsatellite direct denaturing
Molecular epidemiology of DFNB1 deafness in France.

PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups

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35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations

gjb2 dried genomic deaf dhplc pcr-mediated pcr-dhplc
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

PMID 11734061 · PMC60523 · BMC genetics · 2001 · 7 claims · 3 setups

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DHPLC can readily discriminate the two known mutational events (c.365G>A and c.365~366GC>AT) that both cause the R122H mutation

genomic pcr independently pcr denaturing direct
Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.

PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups

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CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA

ebv-immortalized sporadic same caucasian genomic denaturing genotyping
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
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

family genomic clinical microsatellite direct
Low frequency of E-cadherin alterations in familial breast cancer.

PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups

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No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus

blood same tumour pcr-sscp denaturing somatic
Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.

PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups

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There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1

genomic pcr large outbred comparative denaturing pcr
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups

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Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A

genomic pedigree proband pcr denaturing dhplc
Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.

PMID 18612690 · PMC2768068 · Diseases of the colon and rectum · 2008 · 7 claims · 4 setups

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Germline missense APC alterations (S130G, E1317Q, D1822V, G2502S) identified in a CRC-multiple-polyp cohort do not confer significantly increased CRC risk when tested in a large population-based case-control series

germline same population-based ofccr manual dhplc nuclease
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.

PMID 19760750 · PMC2784016 · Human mutation · 2009 · 8 claims · 6 setups

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Two-round fast COLD-PCR followed by Sanger sequencing detects TP53 mutations at abundances as low as ~1%, below the sensitivity of conventional Sanger sequencing (~20-25%)

lung wild-type matched paired two-round real-time airs-rflp

Experiments

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

ATM variants and cancer risk in breast cancer patients from Southern Finland.

Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

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

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

BCoR-L1 variation and breast cancer.

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

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

Molecular epidemiology of DFNB1 deafness in France.

Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.

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

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

Low frequency of E-cadherin alterations in familial breast cancer.

Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.

Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.