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 561

System / cell line: exon ✕ Clear

Epidermal growth factor receptor abnormalities in the pathogenesis and progression of lung adenocarcinomas.

PMID 19138956 · PMC3369271 · Cancer prevention research (Philadelphia, Pa.) · 2008 · 8 claims · 4 setups

Full-text index only

EGFR mutations and protein overexpression are early phenomena in the pathogenesis of lung adenocarcinoma, occurring in histologically normal bronchial/bronchiolar epithelium (NBE)

lung microdissection fluorescence immunohistochemistry
Genotype differences in cognitive functioning in Noonan syndrome.

PMID 19077116 · PMC2760992 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

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Genotype differences account for some of the variation in cognitive ability in Noonan syndrome

individuals participants parents standardized genetic pure-tone
Ligase detection reaction for the analysis of point mutations using free-solution conjugate electrophoresis in a polymer microfluidic device.

PMID 19053073 · PMC3010182 · Electrophoresis · 2008 · 8 claims · 7 setups

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LDR-FSCE (combining LDR with free-solution conjugate electrophoresis) enables single-base resolution separation of LDR products without a polymer sieving matrix

genomic synthetic k-ras ldr-dt pcr solid-phase ligase
Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry.

PMID 19034644 · PMC2728159 · Breast cancer research and treatment · 2009 · 7 claims · 5 setups

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Family history of breast cancer is not associated with all-cause mortality after breast cancer diagnosis in women without a known germline BRCA1/BRCA2 mutation.

women same breast structured cox germline
Increased levels of human beta-defensins mRNA in sexually HIV-1 exposed but uninfected individuals.

PMID 18991618 · PMC4126611 · Current HIV research · 2008 · 8 claims · 5 setups

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ESN individuals show significantly higher HBD-2 and HBD-3 mRNA copy numbers in oral mucosa than healthy controls (HC)

oral vaginal endocervical peripheral real-time pcr-rflp sequencing
Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.

PMID 18990233 · PMC2633285 · Molecular cancer · 2008 · 8 claims · 5 setups

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PHF2, FANCC and PTCH1 show high frequency of alterations (deletion/methylation) compared to XPA in both early- and late-onset breast carcinoma groups

invasive breast normal microsatellite methylation sscp
Activating mutations in ALK provide a therapeutic target in neuroblastoma.

PMID 18923525 · PMC2587486 · Nature · 2008 · 8 claims · 8 setups

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Non-synonymous ALK kinase domain mutations occur in 8% of primary neuroblastomas, with F1174L being the most frequent

neuroblastoma kelly fish sequencing cytokine-independence
The genome of the simian and human malaria parasite Plasmodium knowlesi.

PMID 18843368 · PMC2656934 · Nature · 2008 · 8 claims · 7 setups

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The P. knowlesi (H strain) nuclear genome was sequenced and assembled: 23.5 Mb across 14 chromosomes with 5,188 predicted protein-encoding genes.

knowlesi predicted type whole-genome comparative pfam
Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication.

PMID 18811940 · PMC2564943 · BMC evolutionary biology · 2008 · 8 claims · 8 setups

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Teleosts, unlike tetrapods, possess two closely linked paralogous AQP1 genes, aqp1a and aqp1b (formerly AQP1o), arising from a teleost-specific duplication of an ancestral AQP1 gene

aqp1-like pufferfish tissues xenopus phylogenetic genomic rt-pcr
Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features.

PMID 18769486 · PMC2518524 · PloS one · 2008 · 8 claims · 4 setups

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Unsupervised clustering of expression profiles from 62 medulloblastomas identifies 5 molecular subtypes (A–E)

relapsed medulloblastoma independent expression array targeted
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups

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40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD

genomic pomt2 population genome-wide pcr multiplex
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
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
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups

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dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation

maternal serial genomic chorion dhplc automated pcr
The dystrobrevin-binding protein 1 gene: features and networks.

PMID 18663367 · PMC2859304 · Molecular psychiatry · 2009 · 8 claims · 6 setups

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DTNBP1 gene structure, protein-coding sequence, and dysbindin domain are conserved across 13 vertebrate species, while noncoding sequence is diverse.

vertebrate dtnbp1 comparative cross-species molecular
Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

PMID 18645989 · PMC5715470 · American journal of hematology · 2008 · 7 claims · 8 setups

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Monozygotic twin A (severe hemophilia A, FVIII:C <1%) shows complete nonrandom X-inactivation skewed toward the paternal (normal factor VIII) X-chromosome

peripheral cheek genomic twin factor karyotype microsatellite
Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.

PMID 18632602 · PMC2586155 · Cancer research · 2008 · 8 claims · 7 setups

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A novel somatic MEK1 K57N mutation was identified in 2 of 207 primary lung adenocarcinomas

nsclc 293t il-3-independent mutational site-directed cytokine-independence
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

families affected tmc1 tjp2 genetic sequencing multiplex
Genetic changes of Wnt pathway genes are common events in metaplastic carcinomas of the breast.

PMID 18593979 · PMC3060761 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 6 setups

Full-text index only

Aberrant β-catenin protein expression (nuclear/cytoplasmic accumulation or reduced membrane staining) is present in nearly all metaplastic breast carcinomas, indicating Wnt pathway deregulation.

metaplastic immunohistochemistry pcr
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

Full-text index only

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

Epidermal growth factor receptor abnormalities in the pathogenesis and progression of lung adenocarcinomas.

Genotype differences in cognitive functioning in Noonan syndrome.

Ligase detection reaction for the analysis of point mutations using free-solution conjugate electrophoresis in a polymer microfluidic device.

Family history of breast cancer and all-cause mortality after breast cancer diagnosis in the Breast Cancer Family Registry.

Increased levels of human beta-defensins mRNA in sexually HIV-1 exposed but uninfected individuals.

Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.

Activating mutations in ALK provide a therapeutic target in neuroblastoma.

The genome of the simian and human malaria parasite Plasmodium knowlesi.

Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication.

Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

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

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

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

The dystrobrevin-binding protein 1 gene: features and networks.

Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Genetic changes of Wnt pathway genes are common events in metaplastic carcinomas of the breast.

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