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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The nuclear pore complex.
PMID 11574060 · PMC138961 · Genome biology · 2001 · 8 claims · 8 setups
NPC structure is broadly conserved across eukaryotes but differs substantially in size and architecture between yeast and vertebrates
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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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Genomic view of the evolution of the complement system.
PMID 16896831 · PMC2480602 · Immunogenetics · 2006 · 8 claims · 6 setups
Bony fish and higher vertebrates share practically the same set of complement genes, indicating most complement gene duplications occurred by the teleost/mammalian divergence (~500 MYA)
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Has reproduction · 85
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
PMID 36414417 · PMC10103091 · Journal of the American Society of Nephrology : JASN · 2023 · 7 claims · 7 setups
Hemizygous variants in the X-linked gene ARHGEF6 cause X-linked CAKUT in humans
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Has reproduction · 84
Tbx5 drives Aldh1a2 expression to regulate a RA-Hedgehog-Wnt gene regulatory network coordinating cardiopulmonary development.
PMID 34643182 · PMC8555986 · eLife · 2021 · 8 claims · 8 setups
Tbx5 directly maintains Aldh1a2 expression in the foregut lateral plate mesoderm/pSHF via an evolutionarily conserved intronic enhancer.
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Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.
PMID 16336637 · PMC1325051 · BMC medical genetics · 2005 · 7 claims · 5 setups
GLUT10 (SLC2A10) is a facilitative glucose transporter gene mapped within the T2DM-linked chromosome 20q12-13.1 region
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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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Application of ecotoxicogenomics for studying endocrine disruption in vertebrates and invertebrates.
PMID 16818254 · PMC1874166 · Environmental health perspectives · 2006 · 8 claims · 8 setups
Estrogen-responsive genes in mouse uterus are induced in a dose-dependent, ER-α-dependent manner, as shown by loss of induction in ER-α knockout mice.
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TreeFam: a curated database of phylogenetic trees of animal gene families.
PMID 16381935 · PMC1347480 · Nucleic acids research · 2006 · 7 claims · 6 setups
Tree-based inference of orthologs and paralogs is more robust than BLAST-based methods because evolutionary rates (and thus pairwise BLAST scores) vary across gene family members
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Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication.
PMID 18811940 · PMC2564943 · BMC evolutionary biology · 2008 · 8 claims · 8 setups
Teleosts, unlike tetrapods, possess two closely linked paralogous AQP1 genes, aqp1a and aqp1b (formerly AQP1o), arising from a teleost-specific duplication of an ancestral AQP1 gene
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups
Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1
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Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
PMID 18174378 · PMC2605348 · Blood · 2008 · 7 claims · 8 setups
Homozygous SLC4A1 Ser667Phe mutation causes both hereditary spherocytosis and incomplete distal renal tubular acidosis in the proband
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A rigorous method for multigenic families' functional annotation: the peptidyl arginine deiminase (PADs) proteins family example.
PMID 16271148 · PMC1310624 · BMC genomics · 2005 · 8 claims · 5 setups
Integrating EST-based expression data with phylogenetic analysis is a valid new method for functionally annotating multigenic protein families
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Comparative genomics of vertebrate Fox cluster loci.
PMID 17062144 · PMC1634998 · BMC genomics · 2006 · 8 claims · 3 setups
Two additional human paralogous Fox cluster regions exist, on chromosomes 14 and 20, beyond the previously known chromosome 6 and 16 loci
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Have microarrays failed to deliver for developmental biology?
PMID 12225576 · PMC139405 · Genome biology · 2002 · 8 claims · 8 setups
Despite predictions that microarrays would transform biology, very few published developmental biology microarray studies have generated novel insights.
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Large-scale discovery and validation of functional elements in the human genome.
PMID 15774039 · PMC1088940 · Genome biology · 2005 · 8 claims · 8 setups
Genome-wide tiling microarray hybridization reveals large, diverse sets of transcripts, many of which lack existing gene annotations
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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups
Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)
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Eight previously unidentified mutations found in the OA1 ocular albinism gene.
PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups
Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups
GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.
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Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups
A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant