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).
-
Has reproduction · 87
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
PMID 39039281 · PMC11319204 · Nature genetics · 2024 · 6 claims · 5 setups
A structured multidisciplinary exome sequencing framework established molecular genetic diagnoses in 32% of patients with suspected ultrarare disorders, comprising 370 distinct molecular causes.
-
Full-text index only
Cardiovascular genetic medicine: genomic assessment of prognosis and diagnosis in patients with cardiomyopathy and heart failure.
PMID 20559924 · PMC4745893 · Journal of cardiovascular translational research · 2008 · 8 claims · 6 setups
Molecular signature analysis (MSA) uses machine-learning/classification methods (e.g., PAM/nearest shrunken centroids) on gene expression patterns to classify samples by phenotype for diagnosis, prognosis, or therapy response.
-
Full-text index only
New strategies in drug discovery.
PMID 16671397 · PMC7120019 · Methods in molecular biology (Clifton, N.J.) · 2006 · 8 claims · 8 setups
A new integrated drug discovery paradigm has emerged combining clinical, genetic, genomic, and molecular phenotype data with cheminformatics, managed via informatics
-
Has reproduction · 90
Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits.
PMID 33461502 · PMC7812657 · Genetics, selection, evolution : GSE · 2021 · 7 claims · 6 setups
Many significant cis-eQTL (geQTL, eeQTL, sQTL) were detected in sheep liver and muscle at FDR < 0.01.
-
Full-text index only
Synaptic dysfunction and oxidative stress in Alzheimer's disease: emerging mechanisms.
PMID 16989739 · PMC3933161 · Journal of cellular and molecular medicine · 2006 · 6 claims · 8 setups
Mutations in APP, PS1 and PS2 genes and polymorphisms in the APOE gene are implicated in AD pathogenesis
-
Full-text index only
Divide and conquer: progress in the molecular stratification of cancer.
PMID 19718393 · PMC2730607 · Yonsei medical journal · 2009 · 8 claims · 8 setups
Cancers exhibit significant clinical, histopathologic, and molecular heterogeneity between individual patients
-
Full-text index only
A restricted spectrum of NRAS mutations causes Noonan syndrome.
PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups
Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation
-
Full-text index only
Discovery-based science education: functional genomic dissection in Drosophila by undergraduate researchers.
PMID 15719063 · PMC548953 · PLoS biology · 2005 · 8 claims · 3 setups
Discovery-based genomics research can be integrated into an undergraduate curriculum, engaging large numbers of students in professional-quality research without compromising didactic training
-
Full-text index only
Personalized medicine: the future is not what it used to be.
PMID 19958922 · PMC2844719 · Surgery · 2009 · 8 claims · 8 setups
Many rare tumors harbor a genomic Achilles heel that can be exploited for targeted therapy
-
Full-text index only
Meeting highlights: beyond the genome 2000: the 18th International Congress of Biochemistry and Molecular Biology.
PMID 11119309 · PMC2448388 · Yeast (Chichester, England) · 2000 · 8 claims · 8 setups
Celera sequenced a human genome to ~45-fold coverage from one donor and used high-quality sequence stretches to define ~6 million SNPs
-
Has reproduction · 55
Gene module regulation in dilated cardiomyopathy and the role of Na/K-ATPase.
PMID 35901050 · PMC9333241 · PloS one · 2022 · 5 claims · 8 setups
Several co-expressed gene modules are significantly associated with left ventricle ejection fraction (LVEF) and the DCM phenotype, enriched in fibrosis-related, small molecule transporting-related, and immune response-related pathways.
-
Full-text index only
The N-terminus and alpha-5, alpha-6 helices of the pro-apoptotic protein Bax, modulate functional interactions with the anti-apoptotic protein Bcl-xL.
PMID 17519046 · PMC1890283 · BMC cell biology · 2007 · 8 claims · 8 setups
Deletion of the first 29 N-terminal amino acids (Bax 30-192) causes constitutive mitochondrial accumulation and high cytotoxicity that is poorly inhibited by Bcl-xL or Bcl-2.
-
Full-text index only
Advances in breast cancer: pathways to personalized medicine.
PMID 19088015 · PMC4535810 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups
Germline BRCA1/BRCA2 mutations are strong predictors of breast and ovarian cancer, conferring a 40-80% lifetime risk of breast cancer
-
Full-text index only
The synovial proteome: analysis of fibroblast-like synoviocytes.
PMID 15059280 · PMC400437 · Arthritis research & therapy · 2004 · 7 claims · 5 setups
2D-PAGE combined with MALDI mass spectrometry can characterize the FLS cellular proteome with high confidence
-
Full-text index only
Functional genomics in zebrafish permits rapid characterization of novel platelet membrane proteins.
PMID 19109564 · PMC2680375 · Blood · 2009 · 8 claims · 6 setups
Zebrafish morpholino knockdown combined with a laser-induced arterial thrombosis assay is a fast, powerful method for initial functional screening of novel platelet genes.
-
Full-text index only
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups
PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).
-
Full-text index only
Malaria genomics meets drug-resistance phenotyping in the field.
PMID 19664295 · PMC2745762 · Genome biology · 2009 · 8 claims · 8 setups
Significantly longer parasite clearance times in Pailin (western Cambodia) versus Wang Pha (Thailand-Myanmar border) establish the presence of artemisinin resistance in western Cambodia.
-
Full-text index only
Adapting to a changing world: RAG genomics and evolution.
PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups
RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.
-
Full-text index only
Gene-centric characteristics of genome-wide association studies.
PMID 18060058 · PMC2092383 · PloS one · 2007 · 8 claims · 5 setups
High-density SNP chips using either direct or indirect selection approaches provide very high coverage in genic regions and capture most known common disease variants under the HapMap framework.
-
Full-text index only
ksgA mutations confer resistance to kasugamycin in Neisseria gonorrhoeae.
PMID 19097863 · PMC2723803 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups
Spontaneous KSG-resistant N. gonorrhoeae mutants arise exclusively through mutations in ksgA, not rpsI