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).

• Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?

  PMID 16983454 · PMC6275806 · Cellular & molecular biology letters · 2006 · 7 claims · 7 setups

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  Human FKBP6 expression is restricted to the testis among 15 adult tissues examined

  genomic bilateral testicular rt-pcr mutation testicular

• Prediction and assessment of splicing alterations: implications for clinical testing.

  PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups

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  Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification

  brca1 lymphocytes mammalian large bioinformatic cycloheximide mini-gene

• Pathogenesis of vestibular schwannoma in ring chromosome 22.

  PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)

  peripheral schwann skin-biopsy vestibular karyotyping fish array

• C-terminal mutants of apolipoprotein L-I efficiently kill both Trypanosoma brucei brucei and Trypanosoma brucei rhodesiense.

  PMID 19997494 · PMC2778949 · PLoS pathogens · 2009 · 8 claims · 8 setups

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  The C-terminal helix of apoL1 is entirely responsible for its interaction with SRA

  coli brucei computational papio bacterial trypanolytic nickel-bead

• Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

  PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups

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  DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis

  extremely families genome sanger case-control family-based

• Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers.

  PMID 10027311 · PMC2362423 · British journal of cancer · 1999 · 6 claims · 5 setups

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  Abnormal (aberrant) TSG101 transcripts are common in both cancerous and non-cancerous cervical/endometrial tissue as well as in normal peripheral mononuclear cells

  cervical peripheral rt-pcr southern long

• Expression analysis of candidate breast tumour suppressor genes on chromosome 16q.

  PMID 16280054 · PMC1410740 · Breast cancer research : BCR · 2005 · 8 claims · 7 setups

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  None of the six candidate genes (CBFA2T3, TERF2, TERF2IP, FBXL8, LRRC29, FANCA) showed inactivating mutations or expression differences clearly associated with 16q LOH status

  breast quantitative fragment gene-expression

• Global genetic diversity of human metapneumovirus fusion gene.

  PMID 15207075 · PMC3323143 · Emerging infectious diseases · 2004 · 8 claims · 6 setups

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  Phylogenetic analysis of the HMPV F gene identifies two main groups (A and B, 93%-96% amino acid identity) further divided into four subgroups (A1, A2, B1, B2)

  hmpv llc-mk2 clinical rt-pcr sequence phylogenetic

• 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

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  Phylogenetic analysis revealed nine distinct genotypes among the 12 Thai SIVs examined.

  swine nasal infectious embryonated rt-pcr subtype-specific viral

• Genetic variation of St. Louis encephalitis virus.

  PMID 18632961 · PMC2696384 · The Journal of general virology · 2008 · 8 claims · 4 setups

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  Phylogenetic analysis of 106 SLEV E gene sequences confirms seven major lineages (I-VII) and refines them into 13 clades (IA, IB, IIA, IIB, IIC, IID, IIG, III, IV, VA, VB, VI, VII)

  slev rt-pcr phylogenetic recombination

• Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.

  PMID 9823979 · PMC2063196 · British journal of cancer · 1998 · 6 claims · 4 setups

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  No somatic point mutations were found in the entire EB1 coding sequence in sporadic colorectal cancers or adenomas

  sporadic pcr colorectal rt-pcr direct microsatellite

• Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline.

  PMID 12546714 · PMC149328 · BMC genetics · 2003 · 8 claims · 5 setups

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  A human oocyte-specific DNMT1 isoform (DNMT1o), driven by a novel upstream exon 1o, is expressed in mature oocytes and early embryos but not in somatic tissues

  oocytes genomic fbhm population rt-pcr est direct

• Alternative splicing and bioinformatic analysis of human U12-type introns.

  PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups

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  The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells

  hela hek293 genome jnk2 rt-pcr minigene bioinformatic

• Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle.

  PMID 18836565 · PMC2556974 · Molecular vision · 2008 · 8 claims · 5 setups

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  Haplotype association analysis refines the BCSE-linked region on BTA18 to a 6.82 Mb interval spanning 56.05–62.87 Mb

  eye genomic tnnt1 cdna genomic snp

• Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

  PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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  Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients

  pbls fibroblasts cd19+ rt-pcr genomic western

• Tissue compartment analysis for biomarker discovery by gene expression profiling.

  PMID 19901995 · PMC2771357 · PloS one · 2009 · 8 claims · 5 setups

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  TCA method quantifies the fractional volume of constitutive structures in a heterogeneous tissue sample by comparing marker mRNA levels in the whole sample to those in pure isolated structures

  kidney pure serial rt-pcr sage histo-morphometry

• Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

  PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups

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  A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.

  bone fibroblast 32d.cl8.6 32d rt-pcr genomic flow

• Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

  PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups

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  The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer

  breast tumour sscp exon-by-exon southern

• TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

  PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups

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  A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.

  brain peripheral sk-nsh-n genomic rt-pcr direct snp

• PrimerSeq: Design and visualization of RT-PCR primers for alternative splicing using RNA-seq data.

  PMID 24747190 · PMC4411361 · Genomics, proteomics & bioinformatics · 2014 · 8 claims · 3 setups

  Has reproduction · 90

  PrimerSeq is a user-friendly stand-alone software with a GUI for systematic design and visualization of RT-PCR primers for alternative splicing analysis using user-provided RNA-seq data.

  heart genome rna-seq rt-pcr