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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PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups
Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples
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Candidate target genes for loss of heterozygosity on human chromosome 17q21.
PMID 15187990 · PMC2409524 · British journal of cancer · 2004 · 8 claims · 5 setups
JUP (plakoglobin) is the only identified gene physically located between the D17S746 and D17S846 markers that define the smallest common region of LOH on chromosome 17q21
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Comparative genomic mapping of the bovine Fragile Histidine Triad (FHIT) tumour suppressor gene: characterization of a 2 Mb BAC contig covering the locus, complete annotation of the gene, analysis of cDNA and of physiological expression profiles.
PMID 16719907 · PMC1513570 · BMC genomics · 2006 · 8 claims · 5 setups
A 2 Mb BAC contig of 78 clones was assembled covering the entire bovine FHIT locus
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A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.
PMID 11305939 · PMC31480 · Genome biology · 2001 · 8 claims · 8 setups
SLC4A9 is a novel human NBC-like gene on chromosome 5q31 encoding a 990-amino-acid, 12-transmembrane-domain protein with high similarity to other sodium bicarbonate cotransporters
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The human L-threonine 3-dehydrogenase gene is an expressed pseudogene.
PMID 12361482 · PMC131051 · BMC genetics · 2002 · 8 claims · 7 setups
The human TDH gene is located at chromosome 8p23-22, spans 10 kb, and has 8 exons that would be expected to encode a 369-residue ORF.
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An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region.
PMID 18384666 · PMC2373789 · BMC genomics · 2008 · 8 claims · 7 setups
The bovine genome contains a cluster of eight SERPINA3 genes and one pseudogene (SERPINA3P) sharing high sequence identity and identical structural organization
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.
PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups
A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.
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Has reproduction · 70
Transcriptome analysis provides insights into the regulatory function of alternative splicing in antiviral immunity in grass carp (Ctenopharyngodon idella).
PMID 26248502 · PMC4528194 · Scientific reports · 2015 · 8 claims · 8 setups
AS events, including differentially-expressed-transcript-containing genes (DETs), are ubiquitous in head-kidney and spleen transcriptomes of C. idella
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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
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.
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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups
A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.
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Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.
PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups
Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)
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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).
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Gene discovery in the hamster: a comparative genomics approach for gene annotation by sequencing of hamster testis cDNAs.
PMID 12783626 · PMC161800 · BMC genomics · 2003 · 8 claims · 5 setups
A comparative genomics approach using hamster testis cDNA sequencing can identify genes not previously annotated in the human, mouse, rat and Fugu genomes
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Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.
PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups
Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase
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The cell cycle and virus infection.
PMID 15576934 · PMC7120536 · Methods in molecular biology (Clifton, N.J.) · 2005 · 8 claims · 7 setups
Viruses interfere with the host cell cycle to increase efficiency of virus replication
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Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.
PMID 20026586 · PMC2847243 · Nucleic acids research · 2010 · 8 claims · 5 setups
Telomere fusion in human cells is characterized by extensive sub-telomeric deletion of at least one telomere, extending up to 5.6-6.1 kb
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Has reproduction · 91
Whole genome and transcriptome maps of the entirely black native Korean chicken breed Yeonsan Ogye.
PMID 30010758 · PMC6065499 · GigaScience · 2018 · 6 claims · 7 setups
A hybrid de novo assembly combining high-depth Illumina short reads (376.6X) and low-depth PacBio long reads (9.7X) produced the YO draft genome Ogye_1.1 with contig and scaffold NG50 of 362.3 Kbp and 16.8 Mbp.
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Has reproduction · 57
A ChIP-exo screen of 887 Protein Capture Reagents Program transcription factor antibodies in human cells.
PMID 34426512 · PMC8415381 · Genome research · 2021 · 8 claims · 8 setups
About 5% of tested PCRP antibodies showed high-confidence cognate-target enrichment in at least one assay and are strong candidates for further validation.
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A DNA microarray survey of gene expression in normal human tissues.
PMID 15774023 · PMC1088941 · Genome biology · 2005 · 6 claims · 6 setups
Unsupervised hierarchical clustering of gene expression groups normal tissue samples largely according to anatomic location, cellular composition, or physiologic function.