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).
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Identification and characterization of a novel mammalian Mg2+ transporter with channel-like properties.
PMID 15804357 · PMC1129089 · BMC genomics · 2005 · 8 claims · 6 setups
MagT1 is a novel mammalian Mg2+ transporter with channel-like properties, showing no amino acid sequence identity to other known transporters
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Rapid creation of BAC-based human artificial chromosome vectors by transposition with synthetic alpha-satellite arrays.
PMID 15673719 · PMC548352 · Nucleic acids research · 2005 · 8 claims · 5 setups
Presence of CENP-B box elements is required for efficient de novo centromere formation in HAC vectors
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Novel integrative genomics strategies to identify genes for complex traits.
PMID 16886998 · PMC2367618 · Animal genetics · 2006 · 8 claims · 7 setups
Forward genetics is restricted to genes harboring mutations, systematically missing network genes that causally influence disease without themselves being mutated.
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MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.
PMID 16834459 · PMC1502153 · PLoS medicine · 2006 · 8 claims · 8 setups
A somatic activating mutation in MPL (W515L, transmembrane domain) is present in 9% (4/45) of JAK2V617F-negative myelofibrosis (MF) patients
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Alstrom syndrome (OMIM 203800): a case report and literature review.
PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups
The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome
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Expression genomics in breast cancer research: microarrays at the crossroads of biology and medicine.
PMID 17397520 · PMC1868923 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Genome-wide expression microarray studies reveal transcriptional networks/signatures that explain breast cancer biological and clinical heterogeneity
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Squamous morules are functionally inert elements of premalignant endometrial neoplasia.
PMID 19180120 · PMC2633489 · Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2009 · 8 claims · 5 setups
Squamous morules are hormonally incompetent, lacking ER/PR expression and proliferative activity, unlike the glandular component
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KEGG spider: interpretation of genomics data in the context of the global gene metabolic network.
PMID 19094223 · PMC2646283 · Genome biology · 2008 · 8 claims · 8 setups
KEGG spider, using a global 'pathway-free' metabolic network framework, provides deeper insight into metabolism variations than existing enrichment-based methods.
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Genome-wide siRNA-based functional genomics of pigmentation identifies novel genes and pathways that impact melanogenesis in human cells.
PMID 19057677 · PMC2585813 · PLoS genetics · 2008 · 7 claims · 8 setups
Genome-wide siRNA screening identified 92 novel genes that support melanin production in human melanocytes with a low false discovery rate.
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Activation instead of blocking mesolimbic dopaminergic reward circuitry is a preferred modality in the long term treatment of reward deficiency syndrome (RDS): a commentary.
PMID 19014506 · PMC2615745 · Theoretical biology & medical modelling · 2008 · 8 claims · 6 setups
A biphasic treatment approach—acute DA receptor blocking followed by long-term DA release/activation at the NAc—is needed to treat RDS without inducing abnormal mood or craving.
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KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.
PMID 18797286 · PMC2743278 · Current opinion in otolaryngology & head and neck surgery · 2008 · 8 claims · 8 setups
KCNQ4 mutations at the DFNA2 locus on chromosome 1p34 cause autosomal dominant nonsyndromic progressive sensorineural hearing loss
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Kinetoplastid genomics: the thin end of the wedge.
PMID 18675383 · PMC2676795 · Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2008 · 8 claims · 8 setups
Completion of the T. brucei, T. cruzi, and L. major genome sequencing projects enabled numerous studies that would otherwise have been difficult or impossible.
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A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus.
PMID 18631455 · PMC2727981 · Immunity · 2008 · 7 claims · 8 setups
Transcriptional modules constructed from coordinately expressed genes across 8 diseases form stable, biologically coherent functional units
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Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
PMID 18544707 · PMC2518503 · Diabetes · 2008 · 8 claims · 4 setups
None of the selected GWAS-identified SNPs individually were associated with increased diabetes incidence in the DPP cohort
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Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
PMID 20009079 · PMC2810855 · Circulation. Arrhythmia and electrophysiology · 2009 · 7 claims · 5 setups
Six rare SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified in 8 of 292 (2.7%) SIDS cases, absent from 800 reference alleles
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PALB2 variants in hereditary and unselected Finnish prostate cancer cases.
PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups
None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland
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Characterization of detergent-insoluble proteins in ALS indicates a causal link between nitrative stress and aggregation in pathogenesis.
PMID 19956584 · PMC2780298 · PloS one · 2009 · 8 claims · 8 setups
The Triton X-100-insoluble fraction (TIF) from spinal cord of G93A SOD1 mice is enriched in specific proteins (cytoskeletal, chaperone, mitochondrial, metabolic, signaling) compared to WT mice, already at a preclinical stage.
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data.
PMID 19923232 · PMC2817484 · Nucleic acids research · 2010 · 8 claims · 7 setups
A Perl-based pipeline that BLASTs/BLATs Illumina probe sequences against genomes and transcript databases (RefSeq, UCSC Known Genes, UniGene/GenBank, Ensembl) can classify probes by quality grade (Perfect/Good/Bad/No match) and is applicable across 8 BeadArray platforms and other array types
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Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.
PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups
A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members