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 28

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

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups

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A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T

genomic family chromosomes hela dgge oligonucleotide restriction
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
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
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups

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ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk

germline breast denaturing sanger case-control
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
Prognostic significance of p53 and ras gene abnormalities in lung adenocarcinoma patients with stage I disease after curative resection.

PMID 7852188 · PMC5919395 · Japanese journal of cancer research : Gann · 1994 · 6 claims · 5 setups

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Presence of p53 gene abnormalities is associated with shorter disease-free survival in stage I lung adenocarcinoma

formalin-fixed stage pcr-dgge immunohistochemistry pcr-rflp
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

PMID 16597330 · PMC1456953 · BMC medical genetics · 2006 · 8 claims · 5 setups

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Three novel RP1 truncating mutations (Gln686Ter, Lys705fsX712, Lys722fsX737) cause adRP

genomic adrp denaturing direct restriction
Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups

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I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients

genomic pcr unselected i1307k mutation sequencing clinical
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

genomic pcr polycystin-1 czech denaturing sanger family
Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

PMID 1486847 · PMC1519635 · Environmental health perspectives · 1992 · 8 claims · 3 setups

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Somatic K-ras mutations were found in one-third of lung carcinomas studied, but no N-ras mutations were detected.

lung plasmid pcr-based denaturing
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
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
Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

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Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

genomic taiwanese dhplc pcr sanger
Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

PMID 18087273 · PMC2361463 · British journal of cancer · 2008 · 8 claims · 5 setups

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The malignant brain tumours in patients III-1, III-3, and III-4, originally classified as anaplastic ependymomas, are in fact atypical teratoid/rhabdoid tumours (AT/RT)

constitutional formalin-fixed tumour blood sanger denaturing immunohistochemistry
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
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

PMID 15890066 · PMC1142516 · BMC medical genetics · 2005 · 7 claims · 3 setups

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Screening of the PITX2 coding region and exon-intron junctions in 96 dTGA patients revealed no stop or frameshift mutations.

genomic pcr denaturing direct
Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.

PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups

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Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency

erythrocyte genomic peripheral erythrocytes sds-page non-denaturing direct
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
Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.

PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups

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The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.

genomic pcr mismatch-specific dhplc direct

Experiments

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

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

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.

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

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

Prognostic significance of p53 and ras gene abnormalities in lung adenocarcinoma patients with stage I disease after curative resection.

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

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.

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

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

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

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.

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

Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.