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 600

System / cell line: mutations ✕ Clear

Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.

PMID 18710587 · PMC2575529 · Breast cancer research : BCR · 2008 · 8 claims · 4 setups

Full-text index only

Lifetime breast cancer risk estimates in BRCA1/2 mutation carriers vary widely (roughly 40% to >80%) depending on the study population and ascertainment method

women first-degree brca2 families population-based standardized combined
Design and analysis issues in genome-wide somatic mutation studies of cancer.

PMID 18692126 · PMC2820387 · Genomics · 2009 · 6 claims · 4 setups

Full-text index only

Two-stage (discovery + validation) sequencing designs efficiently allocate resources and can produce highly informative candidate driver gene lists even with relatively small sample sizes.

hypothetical panel colorectal germline simulation targeted genome-wide
Phylogeography of mtDNA haplogroup R7 in the Indian peninsula.

PMID 18680585 · PMC2529308 · BMC evolutionary biology · 2008 · 8 claims · 7 setups

Full-text index only

R7a1, a recently derived sub-branch of haplogroup R7, is particularly frequent among Munda-speaking tribal groups

mtdnas haplogroup genetic geographic complete hvs-i reduced-median
A network model for the correlation between epistasis and genomic complexity.

PMID 18648534 · PMC2481279 · PloS one · 2008 · 8 claims · 5 setups

Full-text index only

In small networks with multifunctional nodes, lack of redundancy, and absence of alternative pathways, epistasis is antagonistic on average.

two-pathway network
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups

Full-text index only

A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant

genomic same chx10 pacg pcr case-control cross-species
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

PMID 18626973 · PMC2570015 · Annals of neurology · 2008 · 8 claims · 8 setups

Full-text index only

Clinical features of Dok-7 myasthenia are highly variable, ranging from mild static limb-girdle weakness to severe generalized progressive disease

cms intercostal cryostat hek293t clinical microelectrode single-channel
Probing the cancer genome.

PMID 18492227 · PMC2441462 · Genome biology · 2008 · 8 claims · 8 setups

Full-text index only

Combined Sanger and 454 pyrosequencing of MCF-7 BAC clones identified 157 PCR-confirmed translocation breakpoint junctions, including 10 in-frame junctions confirmed at the transcript level

mcf-7 tumor lung oral sanger solexa gistic
Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.

PMID 18433472 · PMC2386800 · BMC molecular biology · 2008 · 7 claims · 6 setups

Full-text index only

Co-agroinfiltration of ENDO1 and p19 constructs into N. benthamiana leaves gives high-level transient expression of active, mismatch-specific ENDO1 via a simple purification protocol

benthamiana test genomic hiv-1 transient heteroduplex mutation
Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias.

PMID 18392055 · PMC2391109 · British journal of cancer · 2008 · 7 claims · 8 setups

Full-text index only

AKT1 E17K mutation occurs in breast cancers at a low frequency (4/93, 4.3%)

breast colorectal gastric hepatocellular pcr-sscp capillary
Stability analysis of mixtures of mutagenetic trees.

PMID 18366778 · PMC2335279 · BMC bioinformatics · 2008 · 7 claims · 5 setups

Full-text index only

Mutagenetic trees mixture models capture multiple alternative pathways of ordered accumulation of genetic events (e.g., HIV resistance mutations, cancer chromosomal aberrations).

simulated hiv-1 hiv timed simulation genotypic mutagenetic
Analysis of X chromosome inactivation in autism spectrum disorders.

PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups

Full-text index only

No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls

genomic multiplex mecp2 four chromosome non-parametric mutation
Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.

PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups

Full-text index only

The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.

lines genomic 293hek rt-pcr genomic indirect
The mammalian phenotype ontology: enabling robust annotation and comparative analysis.

PMID 20052305 · PMC2801442 · Wiley interdisciplinary reviews. Systems biology and medicine · 2009 · 8 claims · 6 setups

Full-text index only

The Mammalian Phenotype (MP) Ontology enables classification and organization of phenotypic data for mouse and other mammalian species in a computationally useful, standardized manner.

genotypes neural inbred viable phenotype phylogenetic comparative
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups

Full-text index only

TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls

leucocytes mesenchymal leucocyte real-time direct flow
Rapid detection of SMARCB1 sequence variation using high resolution melting.

PMID 20003390 · PMC2801682 · BMC cancer · 2009 · 8 claims · 6 setups

Full-text index only

HRM screening of SMARCB1 amplicons has a zero false negative rate compared to direct sequencing

genomic same tumor rhabdoid high direct hrm
C-terminal mutants of apolipoprotein L-I efficiently kill both Trypanosoma brucei brucei and Trypanosoma brucei rhodesiense.

PMID 19997494 · PMC2778949 · PLoS pathogens · 2009 · 8 claims · 8 setups

Full-text index only

The C-terminal helix of apoL1 is entirely responsible for its interaction with SRA

coli brucei computational papio bacterial trypanolytic nickel-bead
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.

PMID 19843922 · PMC2766080 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 7 setups

Full-text index only

Homomeric Kir2.1-V227F channels have significantly reduced I K1 (inward reduced ~40%; outward reduced 85-99% at -40 to -60mV) compared to WT

cos-1 kir2.1 32-year-old whole-cell site-directed clinical
Prevalence of the congenital long-QT syndrome.

PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups

Full-text index only

The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)

neonates family heterologous 12-lead targeted transthoracic
Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.

PMID 19812598 · PMC2825112 · The Journal of investigative dermatology · 2010 · 8 claims · 5 setups

Full-text index only

EGFR is activated by somatic mutation in a small subset of cutaneous SCC

archival scc sanger array-based fluorescence
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

Full-text index only

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

Experiments

Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Design and analysis issues in genome-wide somatic mutation studies of cancer.

Phylogeography of mtDNA haplogroup R7 in the Indian peninsula.

A network model for the correlation between epistasis and genomic complexity.

Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.

Probing the cancer genome.

Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.

Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias.

Stability analysis of mixtures of mutagenetic trees.

Analysis of X chromosome inactivation in autism spectrum disorders.

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.

The mammalian phenotype ontology: enabling robust annotation and comparative analysis.

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Rapid detection of SMARCB1 sequence variation using high resolution melting.

C-terminal mutants of apolipoprotein L-I efficiently kill both Trypanosoma brucei brucei and Trypanosoma brucei rhodesiense.

Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.

Prevalence of the congenital long-QT syndrome.

Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.

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