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 49

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

Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell death.

PMID 16359544 · PMC1327688 · BMC cancer · 2005 · 8 claims · 6 setups

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ENO1 has tumour suppressor activity

sk-n-as neuroblastoma genomic growth tunel real-time
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
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
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
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
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
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
Ankyrin-linked hereditary spherocytosis in an African-American kindred.

PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups

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A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.

genomic erythrocyte rabbit dhplc sscp nucleotide
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

genomic family carrier jarid1c dhplc allele-specific restriction
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL

genomic jak1-deficient u4c bw5147 dhplc stat1 cytokine-independent
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
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
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
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
WNT10B mutations in human obesity.

PMID 16477437 · PMC4304000 · Diabetologia · 2006 · 8 claims · 8 setups

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The WNT10B C256Y missense mutation abrogates the protein's ability to activate canonical WNT signalling and block adipogenesis

genomic 3t3-l1 subject proband dhplc top-flash western
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
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

PMID 18688868 · PMC2586182 · American journal of medical genetics. Part A · 2008 · 8 claims · 5 setups

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A novel missense mutation c.2576G→A (p.R859Q) in WFS1 exon 8 causes autosomal dominant LFSNHL in this American family

genomic wfs1 ceph affected pcr sanger population
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
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

Experiments

Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell death.

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.

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

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

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

BCoR-L1 variation and breast cancer.

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

Ankyrin-linked hereditary spherocytosis in an African-American kindred.

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

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

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

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.

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

WNT10B mutations in human obesity.

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

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

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

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