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).
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A functional analysis of the CREB signaling pathway using HaloCHIP-chip and high throughput reporter assays.
PMID 19860899 · PMC2774331 · BMC genomics · 2009 · 8 claims · 6 setups
HaloCHIP is a functional antibody-free alternative to ChIP that uses covalent capture of HaloTag-fusion protein-DNA complexes on HaloLink resin
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Targeted intracellular protein degradation induced by a small molecule: En route to chemical proteomics.
PMID 18752944 · PMC3175619 · Bioorganic & medicinal chemistry letters · 2008 · 7 claims · 2 setups
An all-small-molecule SARM-nutlin PROTAC induces degradation of the androgen receptor in cells
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Nucleotide oligomerization domain-2 interacts with 2'-5'-oligoadenylate synthetase type 2 and enhances RNase-L function in THP-1 cells.
PMID 19853919 · PMC2787966 · Molecular immunology · 2009 · 7 claims · 6 setups
OAS2 is identified as a novel NOD2-binding partner in THP-1 cells by tandem affinity purification and mass spectrometry
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Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
PMID 19808432 · PMC2725366 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 7 setups
G1631D causes profound cardiac sodium channel dysfunction: markedly slowed inactivation (~10-fold), increased persistent current, depolarized voltage dependence of activation/inactivation, and slowed recovery from inactivation
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Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
PMID 19122847 · PMC2585750 · Circulation. Arrhythmia and electrophysiology · 2008 · 7 claims · 5 setups
A missense R99H mutation in KCNE3 was identified in a Brugada Syndrome proband and cosegregates with the phenotype in the family (4/4 phenotype-positive, 0/3 phenotype-negative members carried it)
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Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.
PMID 18836301 · PMC3196984 · Channels (Austin, Tex.) · 2008 · 8 claims · 4 setups
I781T in CaV1.2 shifts the voltage-dependence of activation and inactivation to hyperpolarized voltages, reproducing the channelopathy-like gating phenotype of CaV1.4 I745T
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A restricted spectrum of NRAS mutations causes Noonan syndrome.
PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups
Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation
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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
Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings
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Has reproduction
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups
HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition
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Has reproduction
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
PMID 35764878 · PMC9437031 · European journal of human genetics : EJHG · 2022 · 8 claims · 6 setups
HRAS c.466C>T p.(Phe156Leu) is a novel de novo pathogenic variant causing an attenuated Costello syndrome phenotype in two unrelated boys
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Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling.
PMID 11435474 · PMC2193443 · The Journal of experimental medicine · 2001 · 8 claims · 7 setups
MD-2 is a required component of the LPS signaling complex; a point mutation in MD-2 abolishes LPS-induced signaling
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Proteomics analysis of the expression of neurogranin in murine neuroblastoma (Neuro-2a) cells reveals its involvement for cell differentiation.
PMID 17505539 · PMC1865092 · International journal of biological sciences · 2007 · 6 claims · 5 setups
Expression of Ng in Neuro-2a cells causes widespread down-regulation of microtubule components and associated proteins that mediate neurite outgrowth
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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
SNTA1 is a new susceptibility gene for LQTS
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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
PMID 19079066 · PMC4312696 · Nature genetics · 2009 · 8 claims · 5 setups
Homozygous loss-of-function mutations in TAC3 or TACR3 cause congenital hypogonadotropic hypogonadism in four consanguineous families
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Proteomics-based identification of novel factor inhibiting hypoxia-inducible factor (FIH) substrates indicates widespread asparaginyl hydroxylation of ankyrin repeat domain-containing proteins.
PMID 18936059 · PMC2649815 · Molecular & cellular proteomics : MCP · 2009 · 8 claims · 5 setups
DMOG pretreatment acts as a pharmacological 'substrate trap' that stabilizes transient FIH-substrate interactions, enabling their identification by SILAC-based proteomics
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The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups
The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)
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Spatial separation and bidirectional trafficking of proteins using a multi-functional reporter.
PMID 18384686 · PMC2359743 · BMC cell biology · 2008 · 8 claims · 8 setups
β1Int-HaloTag fusion protein localizes to the cell membrane in a pattern similar to endogenous β1 integrin, indicating the fusion does not disrupt normal integrin surface expression
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Has reproduction
αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor.
PMID 26177020 · PMC4503440 · PloS one · 2015 · 8 claims · 8 setups
αPIX interacts with c-Cbl, including as endogenous proteins
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Proteomic analysis of the mammalian nuclear pore complex.
PMID 12196509 · PMC2173148 · The Journal of cell biology · 2002 · 8 claims · 7 setups
Mass spectrometry was used to identify all proteins present in a biochemically purified rat liver NPC fraction.
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Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.
PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups
Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.