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 34

System / cell line: mutations ✕ Assay: free ✕ Clear

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
Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.

PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups

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BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay

serum-derived tumour serum ht29 arms sanger topo
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups

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A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice

enu-mutagenized jna cell-free hippocampus locomotor qtl gtp-binding
Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups

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BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls

genomic clinical pcr-sscp restriction kaplan-meier
Detection of p53 mutations in precancerous gastric tissue.

PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups

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p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay

gastric enzyme-resistant gastritis pylori-positive restriction sequencing electron
Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.

PMID 18433462 · PMC2632602 · Journal of thrombosis and haemostasis : JTH · 2008 · 6 claims · 6 setups

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A novel 14 bp deletion in intervening sequence L (putative branch point of intron L), which likely impairs PROS1 pre-mRNA splicing, was found in all family members with low free protein S.

plasma genomic apc free ps-direct
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL

genomic jak1-deficient u4c bw5147 dhplc stat1 cytokine-independent
TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.

PMID 8761369 · PMC2074687 · British journal of cancer · 1996 · 8 claims · 8 setups

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CDGE can be used to successfully detect TP53 mutations (exons 5-8) in DNA extracted from archival paraffin-embedded breast carcinoma tissue

archival pcr breast tumour pcr-cdge direct restriction
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups

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Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy

blood cos-1 bacteria mitochondria sequencing cell-based recombinant
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

affected short pcr perchlorate
Genomic variability within an organism exposes its cell lineage tree.

PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups

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Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.

robinia arabidopsis randomly genotyping multiplex computer
A phase II trial of gefitinib as first-line therapy for advanced non-small cell lung cancer with epidermal growth factor receptor mutations.

PMID 17047648 · PMC2360715 · British journal of cancer · 2006 · 7 claims · 5 setups

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Gefitinib is highly active and well tolerated as first-line therapy for advanced NSCLC with EGFR mutations

paraffin-embedded patients same direct phase kaplan-meier
Direct maximum parsimony phylogeny reconstruction from genotype data.

PMID 18053244 · PMC2222657 · BMC bioinformatics · 2007 · 6 claims · 4 setups

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The paper presents the first practical method for computing maximum parsimony phylogenies directly from genotype data, using integer linear programming.

simulated mitochondrial lipoprotein coalescent maximum sliding-window
Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups

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JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.

bone remission sanger pyrosequencing paired
Efficient algorithms for probing the RNA mutation landscape.

PMID 18688270 · PMC2475669 · PLoS computational biology · 2008 · 8 claims · 4 setups

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RNAmutants generalizes McCaskill's partition function algorithm to sum over the grand canonical ensemble of all secondary structures of all k-point mutants, simultaneously computing MFE(k) and Z(k) for each k

element hepatitis hiv utr partition deleterious mutation
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

families affected tmc1 tjp2 genetic sequencing multiplex
A restricted spectrum of NRAS mutations causes Noonan syndrome.

PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups

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Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation

cohort cos-7 recombinant nras mutation western ras
Therapy effect of either paclitaxel or cyclophosphamide combination treatment in patients with epithelial ovarian cancer and relation to TP53 gene status.

PMID 9703286 · PMC2063030 · British journal of cancer · 1998 · 6 claims · 4 setups

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Paclitaxel/cisplatin therapy produces a higher positive response rate than cyclophosphamide/cisplatin therapy in advanced ovarian cancer

patients frozen genomic clinically randomized rt-pcr temporal
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

PMID 17576681 · PMC1934990 · Nucleic acids research · 2007 · 8 claims · 4 setups

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Cryptic 5'ss are best predicted by computational algorithms that accommodate nucleotide dependencies (e.g., Markov model, maximum entropy, maximum dependence decomposition) rather than by weight-matrix models

disease mammalian compiled literature minigene computational
What have we learned from the congenital myasthenic syndromes.

PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups

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CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction

endplate endplates cos bacterially electron intracellular density

Experiments

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

Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

Detection of p53 mutations in precancerous gastric tissue.

Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Genomic variability within an organism exposes its cell lineage tree.

A phase II trial of gefitinib as first-line therapy for advanced non-small cell lung cancer with epidermal growth factor receptor mutations.

Direct maximum parsimony phylogeny reconstruction from genotype data.

Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

Efficient algorithms for probing the RNA mutation landscape.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Therapy effect of either paclitaxel or cyclophosphamide combination treatment in patients with epithelial ovarian cancer and relation to TP53 gene status.

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

What have we learned from the congenital myasthenic syndromes.