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 593

System / cell line: mutations ✕ Clear

Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.

PMID 18784923 · PMC2755762 · Annals of hematology · 2009 · 6 claims · 4 setups

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A non-radioactive, enzyme-coupled luminometric assay can quantify Ras activation as %GTP/(GTP+GDP) with high sensitivity (detects 1 fmol GTP)

bone n=23 3t3 ras genomic
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
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups

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Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1

family genomic xenopus patients genome-wide pcr glucose
Genetic and biochemical studies in Argentinean patients with variegate porphyria.

PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups

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All 18 studied VP patients harbored PPOX gene mutations in heterozygous state

peripheral blood relative urine pcr rt-pcr enzyme
An efficient method for the prediction of deleterious multiple-point mutations in the secondary structure of RNAs using suboptimal folding solutions.

PMID 18445289 · PMC2386494 · BMC bioinformatics · 2008 · 8 claims · 6 setups

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Using RNAsubopt suboptimal solutions computed once for the wild-type sequence, specific multiple-point mutations likely to cause conformational rearrangement can be selected without brute-force enumeration.

example hepatitis minimum suboptimal multiple-point
Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups

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Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells

buccal subject ttge real-time pcr-based
Next-generation sequencing.

PMID 20030863 · PMC2797692 · Breast cancer research : BCR · 2009 · 8 claims · 7 setups

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Massively parallel sequencing can simultaneously capture base-pair mutations, copy number aberrations and somatic rearrangements of a cancer genome in a single experiment

individuals metastatic acute oestrogen whole-exome whole-genome large-scale
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups

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Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis

lysosomal full-length pro-peptide bovine homology sequence weblogo
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
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

hispanic hmfs001 family genomic clinical echocardiography ophthalmologic
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups

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The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.

blood-derived individuals patients excised genomic structured tumor
Isolated eyelid closure myotonia in two families with sodium channel myotonia.

PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups

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The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype

patients blood index standardized needle direct
An enhanced single base extension technique for the analysis of complex viral populations.

PMID 19834618 · PMC2759544 · PloS one · 2009 · 8 claims · 7 setups

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The MDAP single base extension microarray platform measures nucleotide frequency at each genomic position in a complex population without requiring prior knowledge of candidate SNPs

transcribed poliovirus array-bound array single oligonucleotide sbe
B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes.

PMID 9236193 · PMC2198998 · The Journal of experimental medicine · 1997 · 6 claims · 3 setups

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EBV-transformed B cells from NER-defective patients (XP-B, XP-D, XP-V, CS-A) show a high frequency of point mutations in Ig heavy and light chain V regions but not in C regions

ebv-transformed cloned rt-pcr southern sequence
High frequency of mitochondrial genome instability in human endometrial carcinomas.

PMID 12915881 · PMC2376924 · British journal of cancer · 2003 · 7 claims · 3 setups

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56% (28 out of 50) of endometrial carcinoma cases carry one or more somatic mtDNA changes (deletion, point mutation, or mtMSI) compared with matched normal tissue

endometrial paraffin-embedded long-range pcr polyacrylamide
Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.

PMID 19119453 · PMC2610644 · Journal of Korean medical science · 2008 · 7 claims · 3 setups

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Bone marrow cells from AA patients show significantly more mtDNA aberrations (mean=25.6) than healthy controls (mean=12.8)

bone buccal mtdna direct sequence
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 20887964 · PMC2948809 · American journal of human genetics · 2010 · 5 claims · 3 setups

Has reproduction

WDR11 is a gene involved in human puberty, identified via the chromosomal breakpoint of a balanced t(10;12) translocation in a Kallmann syndrome subject.

kallmann unrelated wdr11 translocation mutation protein-protein
COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.

PMID 19958500 · PMC2788389 · BMC genomics · 2009 · 8 claims · 6 setups

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COMUS is a bioinformatics system for detecting and depositing new mutations from patient DNA with a clinician-friendly interface

ab1 fasta mutation hemophilia base-calling sequence known-variant
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

PMID 24193348 · PMC4060107 · European journal of human genetics : EJHG · 2014 · 6 claims · 2 setups

Has reproduction · 83

A novel heterozygous c.1165dupA mutation in exon 7 of TGFB2 (p.Ser389Lysfs*8) was identified in three members of one family with syndromic TAAD.

cohort patient-derived sanger transcript
ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

genomic red computational abo sequencing blood

Experiments

Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.

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

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

An efficient method for the prediction of deleterious multiple-point mutations in the secondary structure of RNAs using suboptimal folding solutions.

Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

Next-generation sequencing.

A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

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

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Isolated eyelid closure myotonia in two families with sodium channel myotonia.

An enhanced single base extension technique for the analysis of complex viral populations.

B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes.

High frequency of mitochondrial genome instability in human endometrial carcinomas.

Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.