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).

• Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

  PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups

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  Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.

  genomic real-time rflp sequencing

• Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families.

  PMID 18501021 · PMC2413256 · BMC cancer · 2008 · 8 claims · 3 setups

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  A large genomic deletion spanning exons 1A-13 of BRCA1 (>43 kb, including the promoter) was identified in one Northern Finnish family with a history of ovarian cancer.

  germline mlpa

• 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

• Identification of a novel lncRNA prognostic signature and analysis of functional lncRNA AC115619.1 in hepatocellular carcinoma.

  PMID 37614318 · PMC10442647 · Frontiers in pharmacology · 2023 · 8 claims · 8 setups

  Has reproduction · 87

  A six-lncRNA prognostic signature (LINC02428, LINC02163, AC008549.1, AC115619.1, CASC9, LINC02362) predicts overall survival in HCC patients

  hcc tcga paired snu-449 lncrna sequencing univariate

• MLGA--a rapid and cost-efficient assay for gene copy-number analysis.

  PMID 17823203 · PMC2034490 · Nucleic acids research · 2007 · 8 claims · 4 setups

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  MLGA is a novel selector-based technique using multiplex ligation-dependent circularization of genomic DNA fragments for copy-number analysis

  pooled genomic aneuploid dog mlga

• Premature centromere division of the X chromosome in neurons in Alzheimer's disease.

  PMID 18624923 · PMC2746937 · Journal of neurochemistry · 2008 · 8 claims · 2 setups

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  PCD,X frequency is significantly elevated (~3-fold) in frontal cortex neurons of sporadic AD patients compared to age-matched controls

  frontal adjacent fluorescent hematoxylin

• Distinct lncRNA transcriptional fingerprints characterize progressive stages of multiple myeloma.

  PMID 26895470 · PMC4924754 · Oncotarget · 2016 · 8 claims · 4 setups

  Has reproduction · 36

  31 lncRNAs are deregulated in plasma cell dyscrasia tumor samples compared to normal plasma cell controls (19 upregulated, 12 downregulated)

  plasma gene patients proprietary lncrna custom gene

• 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

• BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

  PMID 18645608 · PMC2452980 · International journal of medical sciences · 2008 · 8 claims · 5 setups

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  BRCA1 mutations occur at unusually high frequency in young sporadic Algerian breast cancer cases (9.8%) compared to Western populations

  peripheral algerian sanger mlpa microsatellite

• Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

  PMID 18627636 · PMC2575532 · Breast cancer research : BCR · 2008 · 8 claims · 5 setups

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  27 deleterious BRCA1/BRCA2 mutations were detected in 28 breast cancer patients (14 in BRCA1, 13 in BRCA2) among 187 tested

  blood-derived family brca1 direct multiplex boadicea

• Additional EFNB1 mutations in craniofrontonasal syndrome.

  PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups

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  Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients

  lymphoblastoid cfns patients additional pcr multiplex molecular

• Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India.

  PMID 19956544 · PMC2780726 · PloS one · 2009 · 8 claims · 6 setups

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  Interaction between VDR and HLA alleles is mediated by a VDRE present in the promoter region of HLA-DRB1*0301, which may be detrimental in the absence of 1,25-(OH)2D3 in early childhood.

  blood genotype hla-drb1*0301 drb1*0301-carrying pcr-rflp pcr haplotype

• A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

  PMID 16351727 · PMC1327677 · BMC genomics · 2005 · 8 claims · 5 setups

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  A qPCR method using unique-sequence primers can reproducibly detect chromosomal microdeletions and microduplications

  genomic genome pcr real-time fluorescence sequence

• Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

  PMID 18087273 · PMC2361463 · British journal of cancer · 2008 · 8 claims · 5 setups

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  The malignant brain tumours in patients III-1, III-3, and III-4, originally classified as anaplastic ependymomas, are in fact atypical teratoid/rhabdoid tumours (AT/RT)

  constitutional formalin-fixed tumour blood sanger denaturing immunohistochemistry

• Analysis of copy number variation using quantitative interspecies competitive PCR.

  PMID 18697816 · PMC2553599 · Nucleic acids research · 2008 · 7 claims · 6 setups

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  qicPCR uses the entire genome of a single chimpanzee as a competitor, requiring only one reference sample for all assays and enabling large-scale multiplexing

  genomic single 22q11ds qicpcr-derived qicpcr mlpa fluorescence

• Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

  PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

  genomic pcr-amplified reep1 pcr dhplc direct

• Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

  PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups

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  A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP

  peripheral genomic cdna truncation sscp d-hplc

• Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

  PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups

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  Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)

  genomic erythrocyte gnas sanger methylation-specific microsatellite

• 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

• First step toward gene expression data integration: transcriptomic data acquisition with COMMAND>_.

  PMID 30691411 · PMC6348648 · BMC bioinformatics · 2019 · 7 claims · 3 setups

  Has reproduction · 30

  COMMAND>_ is a flexible multi-user web application that searches, downloads, parses, re-annotates, and imports gene expression experiments into a coherent data model.

  small user-defined microarray affymetrix rna-seq probe-to-gene