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 363

System / cell line: mutant ✕ Clear

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups

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SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4

spsma spsma-affected hek293 candidate histopathology confocal
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

cmt2c affected spinal drg genetic sanger quantitative
Mutational analysis of TARDBP in neurodegenerative diseases.

PMID 20031275 · PMC2889148 · Neurobiology of aging · 2011 · 8 claims · 4 setups

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TARDBP mutations are not a significant cause of AD or PD

als tdp-43 pcr pathogenicity
Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.

PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups

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A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family

plasma genomic cho heparinized ace plate conformational
Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups

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Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles

sids hek293 pcr whole-cell
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

PMID 20003495 · PMC2802351 · Orphanet journal of rare diseases · 2009 · 8 claims · 7 setups

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A novel FAH gene mutation, c.103G>A (Ala35Thr), causes a mild, atypical form of tyrosinemia type I

fibroblasts liver genomic tnt northern western liver
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups

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TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls

leucocytes mesenchymal leucocyte real-time direct flow
Rapid detection of SMARCB1 sequence variation using high resolution melting.

PMID 20003390 · PMC2801682 · BMC cancer · 2009 · 8 claims · 6 setups

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HRM screening of SMARCB1 amplicons has a zero false negative rate compared to direct sequencing

genomic same tumor rhabdoid high direct hrm
Requirements for Pseudomonas aeruginosa acute burn and chronic surgical wound infection.

PMID 25057820 · PMC4109851 · PLoS genetics · 2014 · 8 claims · 8 setups

Has reproduction · 78

In vivo gene expression is generally not correlated with a gene's importance for fitness, with the exception of metabolic genes, for which differential expression is more predictive of fitness.

aeruginosa differentially paired rna-seq tn-seq computational
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
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

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Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

genomic hair-root reference patients pcr screening multi-tissue
Tyrosine phosphorylation inhibits PKM2 to promote the Warburg effect and tumor growth.

PMID 19920251 · PMC2812789 · Science signaling · 2009 · 7 claims · 8 setups

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Oncogenic FGFR1 directly phosphorylates PKM2 at tyrosine 105 (Y105), inhibiting its enzymatic activity

293t kg-1a recombinant h1299 ms-based co-transfection enzymatic
The i-motif in the bcl-2 P1 promoter forms an unexpectedly stable structure with a unique 8:5:7 loop folding pattern.

PMID 19908860 · PMC2787777 · Journal of the American Chemical Society · 2009 · 8 claims · 6 setups

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The full-length bcl-2 C-rich promoter sequence (Py39WT) forms one major intramolecular i-motif structure with a transitional pH of 6.6

py39wt fam 32p-labeled circular melting fret
The application of genomics to emerging zoonotic viral diseases.

PMID 19855817 · PMC2734983 · PLoS pathogens · 2009 · 8 claims · 8 setups

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High-throughput sequencing, mRNA expression profiling, and SNP microarray analysis enable rapid identification and genomic characterization of emerging zoonotic pathogens and host responses to them.

siv-infected plasmacytoid migratory influenza transcriptional tlr fecal
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.

PMID 19843922 · PMC2766080 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 7 setups

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Homomeric Kir2.1-V227F channels have significantly reduced I K1 (inward reduced ~40%; outward reduced 85-99% at -40 to -60mV) compared to WT

cos-1 kir2.1 32-year-old whole-cell site-directed clinical
Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups

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Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population

white iron-refractory pcr hepg2 complete direct allele-specific
NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.

PMID 19818133 · PMC2784325 · Genome biology · 2009 · 8 claims · 5 setups

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Determined and manually annotated the complete genome sequence of N. meningitidis clinical isolate strain 8013

meningitidis archived strain neisseria whole-genome transposon targeted
Transcription dynamics.

PMID 19782025 · PMC6326382 · Molecular cell · 2009 · 8 claims · 8 setups

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Transcription factors locate their sparse specific binding sites via a 3D scanning mechanism combining rapid nuclear diffusion with frequent, very transient (seconds-scale) nonspecific chromatin interactions.

living linker lac glucocorticoid frap single-molecule nucleosome
A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk in chronic hepatitis B virus carriers.

PMID 19751529 · PMC2755474 · Journal of biomedical science · 2009 · 8 claims · 5 setups

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Pre-S1 and pre-S2 deletion mutants of the HBV LHBS gene are highly associated with HBV-related HCC

serum plasmids coli pcr oligonucleotide chip
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

PMID 19753315 · PMC2742642 · Molecular vision · 2009 · 8 claims · 5 setups

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Wild-type HA-tagged CLRN1 is correctly trafficked to the plasma membrane in transfected BHK-21 cells

bhk-21 genomic ush confocal western cycloheximide

Experiments

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Mutational analysis of TARDBP in neurodegenerative diseases.

Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Rapid detection of SMARCB1 sequence variation using high resolution melting.

Requirements for Pseudomonas aeruginosa acute burn and chronic surgical wound infection.

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

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Tyrosine phosphorylation inhibits PKM2 to promote the Warburg effect and tumor growth.

The i-motif in the bcl-2 P1 promoter forms an unexpectedly stable structure with a unique 8:5:7 loop folding pattern.

The application of genomics to emerging zoonotic viral diseases.

Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.

Transcription dynamics.

A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk in chronic hepatitis B virus carriers.

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.