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 554

System / cell line: clinical ✕ Clear

Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups

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An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)

genomic arci pcr clinical pedigree
Emerging strategies and applications of pharmacogenomics.

PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups

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Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.

subjects ethnically patients genome-wide gene case-control
Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.

PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups

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An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.

pcr candidate embl clinical snp manual homology
Understanding the mechanisms of drug-associated interstitial lung disease.

PMID 15340376 · PMC2750813 · British journal of cancer · 2004 · 8 claims · 7 setups

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Apoptosis of alveolar/bronchial epithelial cells via Fas-FasL and mitochondrial (cytochrome c/caspase-9) pathways is a key mechanism underlying drug-, chemotherapy-, and radiation-associated lung injury and fibrosis

bronchial lung swiss mice immunohistochemistry toxicology pulmonary
PAX6 gene variations associated with aniridia in south India.

PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

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Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

genomic pcr aniridia sscp automated allele-specific
Shiny-Calorie: a context-aware application for indirect calorimetry data analysis and visualization using R.

PMID 41640623 · PMC12867577 · Bioinformatics advances · 2026 · 8 claims · 8 setups

Has reproduction · 100

Shiny-Calorie is an open-source interactive application for transparent data and metadata integration, statistical analysis, and visualization of indirect calorimetry datasets.

datasets clinical calr imported indirect import physical
Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

PMID 16277682 · PMC1297578 · Arthritis research & therapy · 2005 · 6 claims · 4 setups

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The M404V mutation in p62/SQSTM1 exon 8 segregates with the polyostotic form of PDB in the F01 Italian family

genomic serum affected pcr pcr biochemical clinical
Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.

PMID 16277675 · PMC1297570 · Arthritis research & therapy · 2005 · 8 claims · 6 setups

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The TNF-RII T676G polymorphism is associated with circulating levels of sTNF-RI and sTNF-RII in RA, with a trend TT > TG > GG

serum genomic peripheral synovial elisa pcr-rflp clinical
Numbers of mutations to different types of colorectal cancer.

PMID 16202134 · PMC1266026 · BMC cancer · 2005 · 8 claims · 5 setups

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Different biologic subtypes of colorectal cancer require different numbers of oncogenic mutations before transformation

colorectal germline finnish seer microsatellite germline bayesian
Science star over Asia.

PMID 16149850 · PMC1201306 · PLoS biology · 2005 · 8 claims · 7 setups

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Ariff Bongso and associates at Singapore's National University Hospital were the first to derive human embryonic stem cells, from a five-day-old discarded human embryo in 1994, and showed the cells were pluripotent with therapeutic transplant potential.

blastocyst embryonic fugu rice embryo culture whole-genome
In B-CLL, the codon 72 polymorphic variants of p53 are not related to drug resistance and disease prognosis.

PMID 16109171 · PMC1208864 · BMC cancer · 2005 · 7 claims · 5 setups

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The p53 codon 72 polymorphism is not associated with drug resistance or overall survival in B-CLL

peripheral fresh b-cll sscp-pcr disc kaplan-meier
No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin.

PMID 16095531 · PMC1199587 · BMC cancer · 2005 · 6 claims · 4 setups

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TUBB exon 4 mutations are not found in primary ovarian carcinomas treated with paclitaxel/cisplatin

ovarian same pcr agarose microsatellite
Adapting to a changing world: RAG genomics and evolution.

PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups

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RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.

rag-1 patients zebrafish vertebrate comparative site-directed clinical
Aberration in DNA methylation in B-cell lymphomas has a complex origin and increases with disease severity.

PMID 23326238 · PMC3542081 · PLoS genetics · 2013 · 8 claims · 8 setups

Has reproduction · 49

B-cell non-Hodgkin lymphomas display striking intra-tumor (intra-sample) and inter-patient (inter-sample) cytosine methylation heterogeneity that increases progressively with disease aggressiveness (NBC<NGC<FL<GCB<ABC).

dlbcl normal same lymphoma help errbs massarray
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

PMID 15716625 · PMC2808567 · Journal of Korean medical science · 2005 · 8 claims · 6 setups

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A 13-year-old boy and five affected relatives across three generations with hypokalemic periodic paralysis carry the R1239G mutation in CACNA1S

proband cousins mutation serum electrocardiography
G, N, and P gene-based analysis of Chandipura viruses, India.

PMID 15705335 · PMC3294343 · Emerging infectious diseases · 2005 · 8 claims · 4 setups

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The 2003 epidemic CHPV isolates are closely related to, and not very divergent from, the 1965 isolate, indicating the outbreak was not associated with extensive mutations in the G, N, and P genes.

chpv partial rt-pcr sequence phylogenetic
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

peripheral g2385r patients genotype pcr full clinical
Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

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The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

genomic proband blood patients pcr long-range combined
EGFR mutation status in tumour-derived DNA from pleural effusion fluid is a practical basis for predicting the response to gefitinib.

PMID 17060940 · PMC2360588 · British journal of cancer · 2006 · 7 claims · 4 setups

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EGFR mutations can be detected by direct sequencing of DNA extracted from cell-free pleural effusion fluid supernatant in NSCLC patients

cell-free pleural nsclc direct extraction clinical
Novel heteroduplex method using small cytology specimens with a remarkably high success rate for analysing EGFR gene mutations with a significant correlation to gefitinib efficacy in non-small-cell lung cancer.

PMID 17047654 · PMC2360725 · British journal of cancer · 2006 · 7 claims · 5 setups

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LH-MSA enables EGFR mutation analysis using small numbers of cancer cells from cytology specimens with a remarkably high success rate

cytology excised nsclc gefitinib-treated lh-mobility pcr clinical

Experiments

Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

Emerging strategies and applications of pharmacogenomics.

Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.

Understanding the mechanisms of drug-associated interstitial lung disease.

PAX6 gene variations associated with aniridia in south India.

Shiny-Calorie: a context-aware application for indirect calorimetry data analysis and visualization using R.

Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.

Numbers of mutations to different types of colorectal cancer.

Science star over Asia.

In B-CLL, the codon 72 polymorphic variants of p53 are not related to drug resistance and disease prognosis.

No significant role for beta tubulin mutations and mismatch repair defects in ovarian cancer resistance to paclitaxel/cisplatin.

Adapting to a changing world: RAG genomics and evolution.

Aberration in DNA methylation in B-cell lymphomas has a complex origin and increases with disease severity.

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

G, N, and P gene-based analysis of Chandipura viruses, India.

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

EGFR mutation status in tumour-derived DNA from pleural effusion fluid is a practical basis for predicting the response to gefitinib.

Novel heteroduplex method using small cytology specimens with a remarkably high success rate for analysing EGFR gene mutations with a significant correlation to gefitinib efficacy in non-small-cell lung cancer.