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 35

System / cell line: mutated ✕ Assay: mutation ✕ Clear

SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry.

PMID 19036792 · PMC2686442 · Nucleic acids research · 2009 · 8 claims · 7 setups

Full-text index only

SysPIMP is a web-based platform integrating disease mutation databases with X!Tandem and BLAST to identify disease-related mutated proteins from MS results

omim pmd swissprot msipi database sequence tandem
Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.

PMID 12592375 · PMC2377180 · British journal of cancer · 2003 · 7 claims · 5 setups

Full-text index only

Unmutated VH gene CLL cases have significantly shorter telomeres than mutated VH gene CLL cases

cll subset pcr southern real-time
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

Full-text index only

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

bone remission sanger pyrosequencing paired
Genome wide identification of recessive cancer genes by combinatorial mutation analysis.

PMID 18846217 · PMC2557123 · PloS one · 2008 · 7 claims · 4 setups

Full-text index only

A combinatorial mutation analysis identified 154 candidate recessive cancer genes (pRecessiveCancer<1.5x10-7, FDR=0.39)

refseq tp53 tumor 154-gene est paired array
Identification of HNPCC by molecular analysis of colorectal and endometrial tumors.

PMID 15528786 · PMC3839268 · Disease markers · 2004 · 8 claims · 5 setups

Full-text index only

The Bethesda criteria, with a few modifications, are appropriate to identify families eligible for MMR mutation genetic testing

colorectal endometrial microsatellite immunohistochemistry germline
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

Full-text index only

RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

peripheral patient-parent genomic crebbp karyotyping bac microsatellite
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

Full-text index only

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
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

Full-text index only

TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

arci unrelated dog direct sequence blast
An integrated genomic analysis of human glioblastoma multiforme.

PMID 18772396 · PMC2820389 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups

Full-text index only

IDH1 is recurrently mutated at its active site (R132) in 12% of GBM patients, a previously unrecognized alteration in GBM.

gbm additional missense exome targeted snp
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups

Full-text index only

Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)

genomic somali sri ethnically dhplc snp sanger
With the finished human genome in hand, what next?

PMID 12844356 · PMC193627 · Genome biology · 2003 · 8 claims · 8 setups

Full-text index only

Gene Ontology (GO) provides a syntax/query framework for functional classification of genes, expanding beyond E. coli origins into anatomy, pathology, and phenotype data.

domestic saccharomyces systemic schistosoma comparative functional genetic
The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis.

PMID 14970869 · PMC2410163 · British journal of cancer · 2004 · 7 claims · 7 setups

Full-text index only

CHEK2*1100delC has no major contribution in oesophageal carcinogenesis

oesophageal barrett's dysplastic dutch allele-specific polymorphic immunohistochemistry
Patterns of somatic mutation in human cancer genomes.

PMID 17344846 · PMC2712719 · Nature · 2007 · 8 claims · 5 setups

Full-text index only

Systematic resequencing of a large gene family (protein kinases) across diverse cancers reveals a larger repertoire of cancer genes than previously anticipated

cancers additional computational combined targeted follow-up statistical
Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

PMID 1486847 · PMC1519635 · Environmental health perspectives · 1992 · 8 claims · 3 setups

Full-text index only

Somatic K-ras mutations were found in one-third of lung carcinomas studied, but no N-ras mutations were detected.

lung plasmid pcr-based denaturing
The functional importance of disease-associated mutation.

PMID 12220483 · PMC128831 · BMC bioinformatics · 2002 · 6 claims · 1 setups

Full-text index only

Disease-associated mutations occur in conserved regions of genes and can be used to identify likely disease-causing mutations

disease-associated sequence
Design and analysis issues in genome-wide somatic mutation studies of cancer.

PMID 18692126 · PMC2820387 · Genomics · 2009 · 6 claims · 4 setups

Full-text index only

Two-stage (discovery + validation) sequencing designs efficiently allocate resources and can produce highly informative candidate driver gene lists even with relatively small sample sizes.

hypothetical panel colorectal germline simulation targeted genome-wide
Highly diversified multiply drug-resistant HIV-1 quasispecies in PBMCs: a case report.

PMID 18513421 · PMC2426714 · Retrovirology · 2008 · 7 claims · 6 setups

Full-text index only

HIV-1 quasispecies in PBMCs are more genetically heterogeneous than in plasma

plasma proviral cloned pbmc hiv-1 nested clonal
Frequent p53 gene mutations in soft tissue sarcomas arising in burn scar.

PMID 10359041 · PMC5926059 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups

Full-text index only

p53 gene mutations occur at a high frequency in soft tissue sarcomas arising in burn scars

paraffin-embedded mutated sporadic pcr-sscp direct immunohistochemistry
Eight previously unidentified mutations found in the OA1 ocular albinism gene.

PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups

Full-text index only

Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.

genomic oa1 direct long-range splice-site
Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.

PMID 16417627 · PMC1382246 · BMC genetics · 2006 · 8 claims · 7 setups

Full-text index only

Heterozygous truncating BRCA2 mutations occur in 47% (7/15) of gastrointestinal MSI cancer cell lines/xenografts, a higher rate than previously reported

gastrointestinal ls174t pl3 msi gene rt-pcr rad51

Experiments

SysPIMP: the web-based systematical platform for identifying human disease-related mutated sequences from mass spectrometry.

Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.

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

Genome wide identification of recessive cancer genes by combinatorial mutation analysis.

Identification of HNPCC by molecular analysis of colorectal and endometrial tumors.

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

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

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

An integrated genomic analysis of human glioblastoma multiforme.

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

With the finished human genome in hand, what next?

The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis.

Patterns of somatic mutation in human cancer genomes.

Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

The functional importance of disease-associated mutation.

Design and analysis issues in genome-wide somatic mutation studies of cancer.

Highly diversified multiply drug-resistant HIV-1 quasispecies in PBMCs: a case report.

Frequent p53 gene mutations in soft tissue sarcomas arising in burn scar.

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.