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 18

System / cell line: presence ✕ Assay: bidirectional ✕ Clear

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

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TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

arci unrelated dog direct sequence blast
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

PMID 18334946 · PMC2255026 · Molecular vision · 2008 · 8 claims · 4 setups

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A novel heterozygous c.134G→C change in GJA8, causing p.W45S, was identified as the disease-associated mutation in the affected family

genomic patients ethnically connexin50 bidirectional clinical sanger
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

peripheral blood-derived folliculin chest direct subcloning sequence
Comprehensive annotation of bidirectional promoters identifies co-regulation among breast and ovarian cancer genes.

PMID 17447839 · PMC1853124 · PLoS computational biology · 2007 · 8 claims · 8 setups

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A new algorithm using spliced ESTs (cross-validated against Known Genes and GenBank mRNA) comprehensively maps bidirectional promoters in the human genome

genome transcripts tissues proteins comparative taf250 cpg
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

PMID 18211709 · PMC2248204 · BMC neurology · 2008 · 6 claims · 4 setups

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Pathogenic mutations in PRKN and LRRK2, but not SNCA or PINK1, are found in a Portuguese cohort of early-onset/familial PD patients

genomic cohort bidirectional targeted gene
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups

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A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family

genomic basotho pcr restriction secondary
Prediction-based approaches to characterize bidirectional promoters in the mammalian genome.

PMID 18366609 · PMC2386062 · BMC genomics · 2008 · 8 claims · 7 setups

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The mapping algorithm identified 5,647 candidate bidirectional promoter regions in the mouse genome, similar in number to those previously found in human.

genome seven genes computational cage comparative
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

PMID 17088437 · PMC2705832 · Molecular cancer therapeutics · 2006 · 8 claims · 3 setups

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137 oncogenic mutations were identified across 14 of 24 screened cancer genes (APC, BRAF, CDKN2A, CTNNB1, HRAS, KRAS, NRAS, SMAD4, PIK3CA, PTEN, RB1, STK11, TP53, VHL) in the NCI-60 panel

nci-60 pcr multiplex snp
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups

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Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.

unrelated lca genomic allele-specific bidirectional electroretinogram
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
Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

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The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

PMID 17133256 · PMC2670452 · European journal of human genetics : EJHG · 2007 · 7 claims · 3 setups

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Expert clinical-radiological preselection significantly increases mutation detection rate in MED

patients genomic single clinical pcr
Variation in the E2-binding domain of HPV 16 is associated with high-grade squamous intraepithelial lesions of the cervix.

PMID 11308254 · PMC2363853 · British journal of cancer · 2001 · 8 claims · 6 setups

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E2 gene disruption in the analysed regions is significantly more frequent in high-grade SILs than low-grade SILs

paraffin-embedded hpv16-positive representative cervical pcr restriction bidirectional
SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.

PMID 15927052 · PMC1156871 · BMC bioinformatics · 2005 · 8 claims · 6 setups

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SeqDoC generates a subtracted difference trace between a reference and test chromatogram that highlights single base changes

melanocortin same paired test chromatogram tracediff weak
Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.

PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups

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Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472

genomic phylogenetic direct high
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

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A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

lens family genomic clinical family pcr
Transcriptomics and adaptive genomics of the asymptomatic bacteriuria Escherichia coli strain 83972.

PMID 18317809 · PMC2329726 · Molecular genetics and genomics : MGG · 2008 · 8 claims · 7 setups

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Strain 83972 is best described as a 'deconstructed pathogen' rather than a true commensal that acquired fitness properties

coli microarrays microarray comparative processing
Comparative genomics of dairy-associated Staphylococcus aureus from selected sub-Saharan African regions reveals milk as reservoir for human-and animal-derived strains and identifies a putative animal-related clade with presumptive novel siderophore.

PMID 36046020 · PMC9421002 · Frontiers in microbiology · 2022 · 7 claims · 8 setups

Has reproduction · 89

Milk serves as a reservoir for both human- and animal-derived S. aureus strains in sub-Saharan Africa

aureus reduced genome cgmlst comparative

Experiments

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Comprehensive annotation of bidirectional promoters identifies co-regulation among breast and ovarian cancer genes.

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

Prediction-based approaches to characterize bidirectional promoters in the mammalian genome.

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

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

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Variation in the E2-binding domain of HPV 16 is associated with high-grade squamous intraepithelial lesions of the cervix.

SeqDoC: rapid SNP and mutation detection by direct comparison of DNA sequence chromatograms.

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Transcriptomics and adaptive genomics of the asymptomatic bacteriuria Escherichia coli strain 83972.

Comparative genomics of dairy-associated Staphylococcus aureus from selected sub-Saharan African regions reveals milk as reservoir for human-and animal-derived strains and identifies a putative animal-related clade with presumptive novel siderophore.