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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Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
PMID 17214878 · PMC1779775 · BMC genomics · 2007 · 8 claims · 7 setups
The proportion of subjects lacking DEFA3 varies significantly by population, from 10% to 37%
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Genetic diversity of swine influenza viruses isolated from pigs during 2000 to 2005 in Thailand.
PMID 19453423 · PMC4941901 · Influenza and other respiratory viruses · 2008 · 8 claims · 6 setups
Phylogenetic analysis revealed nine distinct genotypes among the 12 Thai SIVs examined.
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Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
PMID 19808432 · PMC2725366 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 7 setups
G1631D causes profound cardiac sodium channel dysfunction: markedly slowed inactivation (~10-fold), increased persistent current, depolarized voltage dependence of activation/inactivation, and slowed recovery from inactivation
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Fucosylated glycoproteins as markers of liver disease.
PMID 19126969 · PMC3827789 · Disease markers · 2008 · 8 claims · 6 setups
Core alpha 1,6-linked fucosylation of AFP (AFP-L3) is increased in HCC and is a more specific marker of HCC than total AFP
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The current state of proteomics in GI oncology.
PMID 19104933 · PMC3045515 · Digestive diseases and sciences · 2009 · 8 claims · 8 setups
More than 130 exploratory proteomic studies have defined candidate biomarkers in serum, GI fluids, or cancer tissue for GI oncology
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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups
CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID
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The fate of the duplicated androgen receptor in fishes: a late neofunctionalization event?
PMID 19094205 · PMC2637867 · BMC evolutionary biology · 2008 · 8 claims · 4 setups
AR was duplicated into two paralogs, AR-A and AR-B, during a teleost-specific whole genome duplication (WGD), after the split of Acipenseriformes but before the divergence of Osteoglossiformes.
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Proteomic analysis of tumor necrosis factor-alpha resistant human breast cancer cells reveals a MEK5/Erk5-mediated epithelial-mesenchymal transition phenotype.
PMID 19087274 · PMC2656902 · Breast cancer research : BCR · 2008 · 8 claims · 7 setups
MEK5 over-expression promotes a TNF-α resistance phenotype in MCF-7 breast cancer cells
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Adipose proteome analysis: focus on mediators of insulin resistance.
PMID 19086862 · PMC2651673 · Expert review of proteomics · 2008 · 8 claims · 5 setups
Ectopic lipid accumulation in liver and muscle, resulting from impaired adipose tissue lipid-storage capacity, is more directly associated with insulin resistance than adipose tissue mass itself.
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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
PMID 19079066 · PMC4312696 · Nature genetics · 2009 · 8 claims · 5 setups
Homozygous loss-of-function mutations in TAC3 or TACR3 cause congenital hypogonadotropic hypogonadism in four consanguineous families
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Characterization of the placental macrophage secretome: implications for antiviral activity.
PMID 19070362 · PMC2947718 · Placenta · 2009 · 7 claims · 5 setups
PM and MDM secrete different soluble proteins, some of which may contribute to decreased HIV-1 replication in PM
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The molecular landscape of ASPM mutations in primary microcephaly.
PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups
ASPM mutations are the most common cause of MCPH
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A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups
A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01
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Proteomic profiling of amniotic fluid in preterm labor using two-dimensional liquid separation and mass spectrometry.
PMID 19012186 · PMC3163445 · The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2008 · 8 claims · 6 setups
Amniotic fluid protein composition can be analyzed by combining 2D liquid chromatography and mass spectrometry to identify differentially expressed proteins in preterm labor
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Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.
PMID 19000305 · PMC2586028 · BMC cancer · 2008 · 7 claims · 6 setups
16 PTP candidate genes containing coding mononucleotide repeats (cMNR) of at least 7 units were identified via bioinformatic analysis and screened in MSI-H cell lines, cancers, and adenomas
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Genetic diversity of clinical isolates of Bacillus cereus using multilocus sequence typing.
PMID 18990211 · PMC2585095 · BMC microbiology · 2008 · 8 claims · 7 setups
The 55 clinical B. cereus isolates were phylogenetically diverse, comprising 38 sequence types (STs) distributed across two of three previously described clades.
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A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups
Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.
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Searching for genes underlying behavior: lessons from circadian rhythms.
PMID 18988844 · PMC3744585 · Science (New York, N.Y.) · 2008 · 8 claims · 5 setups
Forward genetic mutagenesis screens successfully identified the molecular components of the circadian clock across Drosophila, Neurospora, cyanobacteria, Arabidopsis, and mouse.
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Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups
Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families
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Longitudinal analysis of early stage sarcopenia in aging rhesus monkeys.
PMID 18983905 · PMC2693938 · Experimental gerontology · 2009 · 8 claims · 6 setups
mtDNA deletion mutations induce ETS enzyme abnormalities (COXneg/SDHhyp phenotypes) linked to intra-fiber atrophy and fiber loss