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 77

Assay: mutational ✕ Clear

Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.

PMID 8957064 · PMC5921002 · Japanese journal of cancer research : Gann · 1996 · 6 claims · 4 setups

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Both components of combined hepatocellular-cholangiocellular carcinoma share the same genetic and phenotypic character and may arise from the same origin in some cases

formalin-fixed combined pcr-based allelotype immunohistochemistry
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.

PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups

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A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.

blood serum younger brothers mutational hormone 24-hour
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.

PMID 17940071 · PMC2990861 · Human reproduction (Oxford, England) · 2007 · 8 claims · 7 setups

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A novel heterozygous V355M missense mutation in SF1 was identified in one boy with micropenis and testicular regression syndrome (bilateral anorchia)

peripheral tsa201 tm3 cho sanger transient mammalian
alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.

PMID 19684871 · PMC2726717 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 5 setups

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SNTA1 is a new susceptibility gene for LQTS

genotype-negative hek-293 neonatal mutational patch-clamp coimmunoprecipitation
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
Mutational analysis of TARDBP in neurodegenerative diseases.

PMID 20031275 · PMC2889148 · Neurobiology of aging · 2011 · 8 claims · 4 setups

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TARDBP mutations are not a significant cause of AD or PD

als tdp-43 pcr pathogenicity
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
Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

PMID 8609062 · PMC5921065 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 2 setups

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Mutations of hMLH1 or hMSH2 play only a limited role in the development of sporadic endometrial carcinomas.

sporadic matched mutational
Getting knit-PI3Ky: PIK3CA mutation status to direct multimodality therapy?

PMID 19903790 · PMC3400141 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 1 setups

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PIK3CA mutations are associated with local disease recurrence in rectal cancer patients

tumor retrospective
Determination of point mutational spectra of benzo[a]pyrene-diol epoxide in human cells.

PMID 1486852 · PMC1519600 · Environmental health perspectives · 1992 · 5 claims · 4 setups

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A new protocol combining en masse 6-thioguanine-resistant mutant selection, high-fidelity PCR amplification, and DGGE separation can determine point mutational spectra in human cells with high precision and reproducibility

tk6 184-bp reconstruction point melting
Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.

PMID 9099956 · PMC2222800 · British journal of cancer · 1997 · 8 claims · 7 setups

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No sequence mutations were found in the MTHFR gene in ovarian tumors and cell lines despite extensive SSCP screening

ovarian non-mucinous informative rt-pcr immunohistochemistry pcr-rflp
Heterogeneity of p53 mutational status in esophageal squamous cell carcinoma.

PMID 9617346 · PMC5921814 · Japanese journal of cancer research : Gann · 1998 · 6 claims · 4 setups

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Three of 10 esophageal squamous cell carcinomas showed heterogeneous p53 mutational status, but only within the pre-invasive (carcinoma in situ) area.

esophageal paraffin-embedded genomic biotinylated immunohistochemistry microdissection nested
Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays.

PMID 15722479 · PMC549431 · Nucleic acids research · 2005 · 7 claims · 4 setups

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Two base deletion probes display the highest average hybridization specificity, followed by single base substitution, single base deletion, and single base insertion probes.

atm hybridized probe oligonucleotide transcription microarray
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups

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A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred

genomic tsa201 unspecified proband sequence modified full-length
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups

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MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia

genomic plasma children direct plasma standard
Comprehensive genomic analysis reveals clinically relevant molecular distinctions between thymic carcinomas and thymomas.

PMID 19861435 · PMC2783876 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 7 claims · 7 setups

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Comprehensive genomic analysis shows thymic carcinomas are molecularly distinct from thymomas

resected thymic previously mass dideoxynucleotide array
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups

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Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings

blood hek293a bosc serum sanger calcium confocal
Genomic and mutational profiling to assess clonal relationships between multiple non-small cell lung cancers.

PMID 19671847 · PMC2892178 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 5 setups

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Genomic profiling by aCGH can distinguish clonal tumors from independent primaries with high confidence by identifying matching versus non-matching regions of allelic gain/loss.

fresh-frozen same banked resected array mutational pcr
Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.

PMID 19653712 · PMC2810483 · Archives of pathology & laboratory medicine · 2009 · 6 claims · 7 setups

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Anterior diffuse retinoblastoma, traditionally considered sporadic/nonheritable, can arise from a germline RB1 mutation and thus may be heritable

enucleated tumor anterior immunofluorescence rb1 fine-needle
Comprehensive characterization of the antibody responses to SARS-CoV-2 Spike protein finds additional vaccine-induced epitopes beyond those for mild infection.

PMID 35072628 · PMC8887901 · eLife · 2022 · 8 claims · 3 setups

Has reproduction · 57

mRNA vaccination induces antibody binding to additional Spike epitopes (NTD and CTD in S1) beyond those seen after mild infection (FP and SH-H in S2)

serum combined phage-dms principal

Experiments

Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.

alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.

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

Mutational analysis of TARDBP in neurodegenerative diseases.

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

Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

Getting knit-PI3Ky: PIK3CA mutation status to direct multimodality therapy?

Determination of point mutational spectra of benzo[a]pyrene-diol epoxide in human cells.

Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.

Heterogeneity of p53 mutational status in esophageal squamous cell carcinoma.

Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays.

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

Comprehensive genomic analysis reveals clinically relevant molecular distinctions between thymic carcinomas and thymomas.

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

Genomic and mutational profiling to assess clonal relationships between multiple non-small cell lung cancers.

Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.

Comprehensive characterization of the antibody responses to SARS-CoV-2 Spike protein finds additional vaccine-induced epitopes beyond those for mild infection.