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 21

System / cell line: clinical ✕ Assay: loss ✕ Clear

Metatranscriptomics of the human oral microbiome during health and disease.

PMID 24692635 · PMC3977359 · mBio · 2014 · 8 claims · 8 setups

Has reproduction · 62

Disease-associated periodontal communities display conserved community-level metabolic gene expression profiles between patients, whereas the metabolic gene expression of individual species is highly variable between patients.

patient-matched subset health rna-seq rrna comparison metatranscriptomics
A spectrum of severe familial liver disorders associate with telomerase mutations.

PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

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Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

leukocyte leukocytes reconstitution liver sanger flow telomerase
A role for the p53 pathway in the pathology of meningiomas with NF2 loss.

PMID 18974932 · PMC2692701 · Journal of neuro-oncology · 2009 · 7 claims · 4 setups

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The Pro72 allele of p53 codon 72 was not selected for in the meningioma cohort, and its distribution did not differ from control populations, indicating no role in meningioma initiation.

sporadic meningioma loss pcr-rflp histopathological
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

PMID 20022607 · PMC3891822 · Journal of the neurological sciences · 2010 · 8 claims · 7 setups

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The heteroplasmic m.12276G>A mtDNA tRNA Leu(CUN) mutation causes a childhood-onset, slowly progressive encephalopathy with ataxia, cognitive impairment, dyspraxia, and sensorineural hearing loss

skeletal muscle genomic individual histochemistry biochemical direct
Evolution of two distinct phylogenetic lineages of the emerging human pathogen Mycobacterium ulcerans.

PMID 17900363 · PMC2098775 · BMC evolutionary biology · 2007 · 8 claims · 4 setups

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M. ulcerans has evolved into five InDel haplotypes that separate into two distinct phylogenetic lineages: a 'classical' lineage (Africa, Australia, South East Asia) and an 'ancestral' lineage (Asia, South America, Mexico)

ulcerans marinum plasmid-based pcr genome
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups

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PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).

genomic retina cdna protocadherin str pcr rt-pcr
Emerging strategies and applications of pharmacogenomics.

PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups

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Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.

subjects ethnically patients genome-wide gene case-control
Oncogenic mutations in GNAQ occur early in uveal melanoma.

PMID 18719078 · PMC2634606 · Investigative ophthalmology & visual science · 2008 · 8 claims · 7 setups

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Activating GNAQ mutations at codon 209 occur in 33/67 (49%) of primary uveal melanomas, making it the most common known oncogenic mutation in UM

uveal peripheral normal well-characterized pcr sequencing array-based
Adverse prognosis of epigenetic inactivation in RUNX3 gene at 1p36 in human pancreatic cancer.

PMID 18475302 · PMC2391125 · British journal of cancer · 2008 · 7 claims · 5 setups

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RUNX3 promoter hypermethylation is frequent in primary pancreatic cancer tissue

pancreatic microsatellite methylation-specific bisulphite
Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas.

PMID 8198970 · PMC1969417 · British journal of cancer · 1994 · 6 claims · 8 setups

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A significant minority of leiomyosarcomas harbor p53 gene point mutations or deletions

leiomyosarcomas frozen leiomyosarcoma sarcoma sscp direct immunohistochemistry
Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups

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LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested

lobular pcr loh loh pcr-sscp sequencing
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups

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A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.

cerebrospinal genomic brain blood elisa genetic apoe
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

PMID 18725978 · PMC2518116 · PloS one · 2008 · 7 claims · 6 setups

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TP53 mutations, especially those affecting the L2/L3 DNA-binding domains, are associated with resistance (progressive disease) to epirubicin therapy

snap-frozen tumor u-2-os patients pcr bisulphite loss
Crystallin gene mutations in Indian families with inherited pediatric cataract.

PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups

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Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population

genomic pcr affected pediatric single direct restriction
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups

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Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21

genomic ush2 ush2a sscp audiological ophthalmological
Different molecular patterns in glioblastoma multiforme subtypes upon recurrence.

PMID 19644652 · PMC2811648 · Journal of neuro-oncology · 2010 · 7 claims · 5 setups

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Type 1 GBM (p53 mutation, no EGFR amplification) and type 2 GBM (EGFR amplification, no p53 mutation) conserve their original molecular pattern at relapse.

paired gbm sequencing semiquantitative microsatellite
Colorectal cancer genomics: evidence for multiple genotypes which influence survival.

PMID 11720434 · PMC2363933 · British journal of cancer · 2001 · 6 claims · 3 setups

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Genetic grade (total number of CGH-detected gains+losses) varies greatly among Dukes' C CRC tumours and shows a multimodal (non-normal) distribution

dukes colorectal comparative kaplan-meier
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
Convergence of mutation and epigenetic alterations identifies common genes in cancer that predict for poor prognosis.

PMID 18507500 · PMC2429944 · PLoS medicine · 2008 · 7 claims · 7 setups

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At least 36 of the 189 newly mutated CAN genes are targets of promoter CpG island hypermethylation, often in both colon and breast cancer cell lines

breast same selected hct116 expression methylation-specific rt-pcr
Activation instead of blocking mesolimbic dopaminergic reward circuitry is a preferred modality in the long term treatment of reward deficiency syndrome (RDS): a commentary.

PMID 19014506 · PMC2615745 · Theoretical biology & medical modelling · 2008 · 8 claims · 6 setups

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A biphasic treatment approach—acute DA receptor blocking followed by long-term DA release/activation at the NAc—is needed to treat RDS without inducing abnormal mood or craving.

kidney alcohol-preferring obese rodents receptor dna-directed meta-analysis

Experiments

Metatranscriptomics of the human oral microbiome during health and disease.

A spectrum of severe familial liver disorders associate with telomerase mutations.

A role for the p53 pathway in the pathology of meningiomas with NF2 loss.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Evolution of two distinct phylogenetic lineages of the emerging human pathogen Mycobacterium ulcerans.

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Emerging strategies and applications of pharmacogenomics.

Oncogenic mutations in GNAQ occur early in uveal melanoma.

Adverse prognosis of epigenetic inactivation in RUNX3 gene at 1p36 in human pancreatic cancer.

Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas.

Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

Crystallin gene mutations in Indian families with inherited pediatric cataract.

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Different molecular patterns in glioblastoma multiforme subtypes upon recurrence.

Colorectal cancer genomics: evidence for multiple genotypes which influence survival.

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

Convergence of mutation and epigenetic alterations identifies common genes in cancer that predict for poor prognosis.

Activation instead of blocking mesolimbic dopaminergic reward circuitry is a preferred modality in the long term treatment of reward deficiency syndrome (RDS): a commentary.