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 33

System / cell line: mutations ✕ Assay: full ✕ Clear

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.

PMID 19906727 · PMC2808858 · Nucleic acids research · 2010 · 8 claims · 6 setups

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COSMIC is the largest public resource for information on somatically acquired mutations in human cancer, freely available without restriction

cancer tumour manual semi-automated candidate
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups

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TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes

pakistani affected retina tissues linkage sanger race
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

PMID 18704680 · PMC2775077 · Breast cancer research and treatment · 2009 · 8 claims · 8 setups

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The Breast Cancer Family Registry is an open resource for collaborative interdisciplinary and translational studies of the genetic epidemiology of breast cancer.

breast california ashkenazi full two-dimensional denaturing
Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.

PMID 11437403 · PMC2363927 · British journal of cancer · 2001 · 7 claims · 4 setups

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β-catenin and γ-catenin gene mutations are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas

lung carcinoma lines pcr-sscp rt-pcr-sscp direct
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

PMID 16417652 · PMC1413985 · Breast cancer research : BCR · 2006 · 8 claims · 7 setups

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BOADICEA predicts accurately the number of BRCA1 and BRCA2 mutations across family groups and discriminates well between carriers and noncarriers

french-canadian families brca1-positive same targeted full-length multiplex
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

PMID 18509552 · PMC2391085 · Molecular vision · 2008 · 7 claims · 7 setups

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Point mutations and small insertions/deletions in TOPORS cause approximately 1% of adRP

genomic unrelated additional patients fluorescent multiplex sequencing
Extraction of human kinase mutations from literature, databases and genotyping studies.

PMID 19758464 · PMC2745582 · BMC bioinformatics · 2009 · 7 claims · 6 setups

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A literature mining pipeline combining MutationFinder, false-positive filtering, and SVM-based classification can extract and disambiguate single-point mutation mentions from abstracts and full text

pubmed large labeled swissprot literature supervised comparative
A feed-forward pathway drives LRRK2 kinase membrane recruitment and activation.

PMID 36149401 · PMC9576273 · eLife · 2022 · 8 claims · 8 setups

Has reproduction · 50

A C-terminal patch of the LRRK2 Armadillo domain (residues ~350–550, 'site #1') binds non-phosphorylated Rab29, Rab8A, and Rab10 with low-micromolar affinity

recombinant lrrk2 hela hek293t microscale confocal immunoblotting
QuasiFlow: a Nextflow pipeline for analysis of NGS-based HIV-1 drug resistance data.

PMID 36699347 · PMC9722223 · Bioinformatics advances · 2022 · 6 claims · 8 setups

Has reproduction · 78

QuasiFlow is a Nextflow pipeline that runs entirely locally via command-line tools and a local HIVdb database copy to analyze NGS-based HIV-1 drug resistance testing data.

hiv-1 same paired-end reads ngs-based concordance read
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

pfm selected point-mutation-negative family dhplc bidirectional multiplex
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
ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.

PMID 14562025 · PMC2394328 · British journal of cancer · 2003 · 8 claims · 4 setups

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Women with bilateral breast cancer show greater genetic predisposition (higher family history prevalence) than women with unilateral breast cancer

blood-derived blood random dhplc microsatellite duplicate
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

PMID 17663003 · PMC3272403 · Journal of the neurological sciences · 2007 · 6 claims · 5 setups

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Only two BSCL2 exon 3 mutations (N88S, S90L) are likely responsible for the dHMN-V and Silver syndrome phenotypes identified in this cohort

unrelated probands single sanger nerve needle
Genomic variability associated with the presence of occult hepatitis B virus in HIV co-infected individuals.

PMID 19889143 · PMC3032083 · Journal of viral hepatitis · 2010 · 7 claims · 8 setups

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O-HBV-associated mutations in PreS/S/polymerase regions likely contribute to undetectable HBsAg by interfering with serologic detection, altering antigen secretion, and/or decreasing replicative fitness

serum hbv full-length o-hbv nested phylogenetic quasispecies
Genetic characterization of 2006-2008 isolates of Chikungunya virus from Kerala, South India, by whole genome sequence analysis.

PMID 19851853 · PMC7088544 · Virus genes · 2010 · 8 claims · 7 setups

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37 novel mutations were identified across the six sequenced CHIKV genomes, predominantly in 2007 and 2008 isolates

serum vero chikv additional rt-pcr virus whole-genome
Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.

PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups

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In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.

peripheral hprt-mutant pcr limiting cdna multiplex
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

PMID 17438525 · PMC2669504 · Molecular vision · 2007 · 8 claims · 8 setups

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NR2E3 LBD fused to a heterologous Gal4 DBD mediates dose-dependent transcriptional repression on Gal4-responsive reporters.

cos-1 hela luciferase western electrophoretic
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

PMID 19093009 · PMC2603250 · Molecular vision · 2008 · 8 claims · 6 setups

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OCT detects foveal and lamellar macular retinoschisis more frequently than funduscopy alone

xlrs genomic optical full-field multifocal
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
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups

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R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity

polarized mdck mdck-cftr patients confocal surface western

Experiments

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

Mutations of the beta- and gamma-catenin genes are uncommon in human lung, breast, kidney, cervical and ovarian carcinomas.

BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Extraction of human kinase mutations from literature, databases and genotyping studies.

A feed-forward pathway drives LRRK2 kinase membrane recruitment and activation.

QuasiFlow: a Nextflow pipeline for analysis of NGS-based HIV-1 drug resistance data.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

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

ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Genomic variability associated with the presence of occult hepatitis B virus in HIV co-infected individuals.

Genetic characterization of 2006-2008 isolates of Chikungunya virus from Kerala, South India, by whole genome sequence analysis.

Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.

The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Genotype differences in cognitive functioning in Noonan syndrome.

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.