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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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups
A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).
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Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma.
PMID 11308259 · PMC2363857 · British journal of cancer · 2001 · 8 claims · 8 setups
Two forms of SYT mRNA, N-SYT and a novel form I-SYT, are co-expressed in normal human tissues and in synovial sarcomas
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Alterations of E-cadherin and beta-catenin in gastric cancer.
PMID 11747475 · PMC60969 · BMC cancer · 2001 · 8 claims · 5 setups
High frequency (75%) of loss of heterozygosity (LOH) at 16q22.1, the E-cadherin locus, occurs in primary gastric tumours
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GREM, a technique for genome-wide isolation and quantitative analysis of promoter active repeats.
PMID 16698959 · PMC3303178 · Nucleic acids research · 2006 · 7 claims · 5 setups
GREM enables genome-wide isolation and quantitative analysis of transcriptionally active (promoter-active) repetitive elements while excluding read-through transcript background
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Has reproduction · 59
Identification of herpesvirus transcripts from genomic regions around the replication origins.
PMID 37773348 · PMC10541914 · Scientific reports · 2023 · 8 claims · 8 setups
Herpesviruses display distinct patterns of transcriptional overlaps near or at the replication origins (Oris)
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Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.
PMID 10389976 · PMC2363023 · British journal of cancer · 1999 · 6 claims · 4 setups
No MEN1 coding-region mutations were detected in any of 23 sporadic pituitary tumours with 11q13 LOH, arguing against MEN1 mutation as the mechanism of tumorigenesis in these cases
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Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups
Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2
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Identification and characterisation of the angiotensin converting enzyme-3 (ACE3) gene: a novel mammalian homologue of ACE.
PMID 17597519 · PMC1925091 · BMC genomics · 2007 · 7 claims · 7 setups
A novel single-domain ACE-like gene, ACE3, exists in mouse, rat, cow, dog and human genomes, located on the same chromosome downstream of ACE.
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Identification of common genetic variation that modulates alternative splicing.
PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups
Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes
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Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups
GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers
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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups
TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls
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Focused glycomic analysis of the N-linked glycan biosynthetic pathway in ovarian cancer.
PMID 18690643 · PMC3970323 · Proteomics · 2008 · 8 claims · 5 setups
N-linked glycan biosynthetic enzyme transcript profiles in normal mouse and human ovarian tissue are similar, indicating species conservation
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Examination of FMR1 transcript and protein levels among 74 premutation carriers.
PMID 19927162 · PMC4122982 · Journal of human genetics · 2010 · 7 claims · 4 setups
FMR1 premutation carriers (55-199 CGG repeats) show increased FMR1 transcript levels alongside decreased FMRP levels compared to normal individuals.
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Identification of transcription start sites and preferential expression of select CB2 transcripts in mouse and human B lymphocytes.
PMID 19757078 · PMC2843092 · Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2009 · 7 claims · 8 setups
Human B cells express one CB2 transcript while mouse B cells express three CB2 transcripts
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Has reproduction · 85
Expansion of the SOS regulon of Vibrio cholerae through extensive transcriptome analysis and experimental validation.
PMID 29783948 · PMC5963079 · BMC genomics · 2018 · 8 claims · 8 setups
Whole transcriptome sequencing with extensive TSS mapping identified 3078 transcription start sites and 629 ncRNAs in V. cholerae N16961
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Has reproduction · 64
Caecilians maintain a functional long-wavelength-sensitive cone opsin gene despite signatures of relaxed selection and more than 200 million years of fossoriality.
PMID 40990923 · PMC12687342 · Evolution; international journal of organic evolution · 2025 · 8 claims · 5 setups
The LWS opsin gene was identified in 13 species of caecilians spanning 8 of 10 recognized families
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Detection of the DCC gene product in normal and malignant colorectal tissues and its relation to a codon 201 mutation.
PMID 9484816 · PMC2149930 · British journal of cancer · 1998 · 6 claims · 5 setups
DCC protein expression is lost in the majority of colorectal tumours while retained in all normal colonic tissue
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Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers.
PMID 10027311 · PMC2362423 · British journal of cancer · 1999 · 6 claims · 5 setups
Abnormal (aberrant) TSG101 transcripts are common in both cancerous and non-cancerous cervical/endometrial tissue as well as in normal peripheral mononuclear cells
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The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.
PMID 12381271 · PMC134458 · BMC genetics · 2002 · 7 claims · 8 setups
UNC93A maps within the minimal region of allele loss on 6q27 between D6S264 and D6S149, centromeric to D6S149