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 37

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

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups

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DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing

genomic muscle blood direct dhplc multiplexed
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

PMID 15084222 · PMC419352 · BMC medical genetics · 2004 · 6 claims · 5 setups

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DHPLC gene scanning of the CFTR gene increases the mutation detection rate compared to standard commercial mutation panel screening alone

genomic pcr cftr inno-lipa pcr agarose
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

genomic pcr-amplified tsc healthy dhplc direct pcr
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups

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Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes

peripheral saccharomyces yeast ins-1e dhplc proton western
K-RAS and P53 mutations in association with COX-2 and hTERT expression and clinico-pathological status of NSCLC patients.

PMID 18957720 · PMC3827803 · Disease markers · 2008 · 8 claims · 6 setups

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P53 mutations were identified in 34.4% of NSCLC tumours, most frequently in SCC (55.6%)

nsclc dhplc quantitative clinical
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
Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups

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Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls

genomic pcr patients dhplc cloning pcr-rflp
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

PMID 17125505 · PMC1684249 · BMC medical genetics · 2006 · 6 claims · 3 setups

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A nonsense mutation c.1072C>T (p.Arg358X) in exon 12 of EDAR was identified in affected individuals from both Swedish families and is disease-specific

genomic patients dhplc pcr clinical
A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

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The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

peripheral cos-7 dhplc immunofluorescence
Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups

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A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.

genomic peripheral metaphase dhplc sequencing rt-pcr
Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups

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Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels

renal dhplc direct pcr-restriction
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

PMID 19808356 · PMC2765062 · Circulation. Heart failure · 2009 · 8 claims · 4 setups

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Myofilament protein levels (MYBPC3 and MYH7) are increased, not decreased, in HCM patients carrying a mutation in either gene compared to healthy heart tissue

genomic lysate formalin-fixed myectomy mutational western immunohistochemistry
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
A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

PMID 17233897 · PMC1784098 · BMC cancer · 2007 · 5 claims · 3 setups

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A novel BRCA1 nonsense mutation, E1373X, in exon 12 was identified in a Palestinian Arab family with breast and ovarian cancer.

leukocyte pcr genomic dhplc direct allele-specific
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups

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OPTC is a candidate gene involved in POAG pathogenesis

genomic pcr optc retinal pcr-sscp dhplc sequencing
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
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
A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups

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A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.

genomic patients high recombinant pcr full-field paired-flash
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 spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups

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The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.

genomic pcr long-distance pcr sanger

Experiments

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

K-RAS and P53 mutations in association with COX-2 and hTERT expression and clinico-pathological status of NSCLC patients.

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

Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

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.

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Molecular epidemiology of DFNB1 deafness in France.

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

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

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.