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 206

Assay: splice ✕ Clear

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups

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50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.

genomic α-gal cos-7 transcripts pcr southern microsatellite
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

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GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

palestinian genomic probands lymphoblasts targeted sanger pcr
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups

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Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes

qbl pgf classical ceph bac comparative gene
LMPD: LIPID MAPS proteome database.

PMID 16381922 · PMC1347484 · Nucleic acids research · 2006 · 8 claims · 5 setups

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LMPD is an object-relational database of lipid-associated protein sequences and annotations, publicly available from the LIPID MAPS Consortium website.

uniprot kegg in-house oracle9i kegg database enzyme
Rbfox2 controls autoregulation in RNA-binding protein networks.

PMID 24637117 · PMC3967051 · Genes & development · 2014 · 8 claims · 8 setups

Has reproduction · 48

Rbfox2 cross-regulates AS-NMD events within RNA-binding protein genes to alter their expression, tuning autoregulatory splicing networks and placing Rbfox2 at a critical node of a multilayer regulatory network.

v6.5 fhfox2 top introns iclip sequencing rt-pcr
Comparative genomics search for losses of long-established genes on the human lineage.

PMID 18085818 · PMC2134963 · PLoS computational biology · 2007 · 8 claims · 6 setups

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A novel comparative genomics method (TransMap-based syntenic mapping of gene structures between human, mouse, and dog) can detect losses of well-established single-copy genes without relying on sequence homology to a parental gene, distinguishing them from typical duplication- or retrotransposition-derived pseudogenes.

dog genome chimp gorilla comparative overlap visual
F-SNP: computationally predicted functional SNPs for disease association studies.

PMID 17986460 · PMC2238878 · Nucleic acids research · 2008 · 6 claims · 8 setups

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F-SNP is a database integrating functional effect predictions for SNPs from 16 bioinformatics tools/databases across four categories: splicing, transcription, translation, and post-translation

genome protein-coding genomic genome-wide non-synonymous exonic nonsense
Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

PMID 17697348 · PMC2042502 · BMC genetics · 2007 · 8 claims · 5 setups

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CTCE eliminates the need for laboratory optimization of separation conditions for each exonic target sequence.

pcr-amplified target exonic cycling ctce
Alternative splicing and bioinformatic analysis of human U12-type introns.

PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups

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The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells

hela hek293 genome jnk2 rt-pcr minigene bioinformatic
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups

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CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID

ebv-transformed genomic father peripheral intracellular snp sequencing
Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseases.

PMID 19063745 · PMC2613935 · BMC bioinformatics · 2008 · 8 claims · 5 setups

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Gene Prospector is a Web-based application that selects and prioritizes potential disease-related genes using a curated, updated literature database of genetic association studies

huge pdgene snps3d dbsnp curated comparative snp
The EPHA2 gene is associated with cataracts linked to chromosome 1p.

PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

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A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

family case-control genome-wide str pcr
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

genomic oa1 one gpr143 pcr heteroduplex junction-fragment
Transduplication resulted in the incorporation of two protein-coding sequences into the turmoil-1 transposable element of C. elegans.

PMID 18842128 · PMC2572040 · Biology direct · 2008 · 8 claims · 6 setups

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The Turmoil-1 transposable element in C. elegans incorporated two unrelated protein-coding sequences into its inverted terminal repeats (ITRs)

turmoil-1 rrm elegans predicted pairwise maximum genome-wide
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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LQTS-associated mutations were identified in 8 of 112 families studied

large lqts family mutation linkage direct single-strand
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
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
Genomic and bioinformatics analysis of human adenovirus type 37: new insights into corneal tropism.

PMID 18471294 · PMC2397415 · BMC genomics · 2008 · 7 claims · 7 setups

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The complete genome of HAdV-37 was sequenced and annotated (35,213 bp, 56.6% GC content, 35 predicted coding sequences plus 8 hypothetical ORFs)

hadv-37 predicted select genome cpg global
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups

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A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP

peripheral genomic cdna truncation sscp d-hplc
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups

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Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family

hek immunoprecipitated tsc2 peripheral coimmunoprecipitation rheb s6k-t389

Experiments

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

LMPD: LIPID MAPS proteome database.

Rbfox2 controls autoregulation in RNA-binding protein networks.

Comparative genomics search for losses of long-established genes on the human lineage.

F-SNP: computationally predicted functional SNPs for disease association studies.

Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

Alternative splicing and bioinformatic analysis of human U12-type introns.

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseases.

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Transduplication resulted in the incorporation of two protein-coding sequences into the turmoil-1 transposable element of C. elegans.

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

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

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

Genomic and bioinformatics analysis of human adenovirus type 37: new insights into corneal tropism.

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.