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).

• Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

  PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups

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  Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.

  genomic unrelated bmp4 sanger restriction heteroduplex-single

• Additional EFNB1 mutations in craniofrontonasal syndrome.

  PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups

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  Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients

  lymphoblastoid cfns patients additional pcr multiplex molecular

• Reconstructing transcriptional regulatory networks through genomics data.

  PMID 20048387 · PMC3666560 · Statistical methods in medical research · 2009 · 7 claims · 5 setups

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  Location data (ChIP-chip/ChIP-seq) alone is insufficient for TRN inference because binding does not imply regulation, TF binding is dynamic across conditions/time, and TRNs involve combinatorial effects of multiple TFs not captured by single-TF ChIP experiments.

  yeast generic perturbations followed chip-chip chip-seq gene

• Large-scale analysis of mutations in RET exon 16 in sporadic medullary thyroid carcinomas in Japan.

  PMID 11429053 · PMC5926749 · Japanese journal of cancer research : Gann · 2001 · 5 claims · 4 setups

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  RET exon 16 (codon 918) somatic mutations are rare in sporadic MTC among Japanese patients

  paraffin-embedded genomic direct pcr-rflp nested

• Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.

  PMID 16111488 · PMC1208866 · BMC cancer · 2005 · 8 claims · 4 setups

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  15 of 89 nsSNPs (16.9%) studied were predicted to abolish or create phosphorylation sites in 14 of 32 proteins (44.0%)

  orthologues repair case-control phosphorylation cross-species database

• A novel mutation in the SH3BP2 gene causes cherubism: case report.

  PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups

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  A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.

  genomic proband patients jaw direct pcr computed

• Sequence variations of GRM6 in patients with high myopia.

  PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

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  Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls

  genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction

• Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

  PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups

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  Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC

  formalin-fixed corresponding sporadic pcr clinical

• A new family of giardial cysteine-rich non-VSP protein genes and a novel cyst protein.

  PMID 17183673 · PMC1762436 · PloS one · 2006 · 8 claims · 7 setups

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  HCNCp is a novel invariant (non-variant) cyst protein belonging to a new family of high-cysteine membrane proteins (HCMp) abundant in the Giardia genome

  giardia serial northern western

• Pathogenic mitochondrial DNA mutations are common in the general population.

  PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups

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  At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers

  neonatal independent m.1555a→g-positive mutation-positive high-throughput last-cycle cloning

• A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

  PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.

  three-generation genomic crybb1 family genotyping direct restriction

• In silico discovery of transcription regulatory elements in Plasmodium falciparum.

  PMID 18257930 · PMC2268928 · BMC genomics · 2008 · 7 claims · 8 setups

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  GEMS, using hypergeometric scoring and PWM parameter optimization, reliably identifies high-confidence cis-regulatory elements in the AT-rich, repeat-rich P. falciparum genome

  falciparum plasmodium invasion invasion-related microarray motif comparative

• A naturally occurring human RPA subunit homolog does not support DNA replication or cell-cycle progression.

  PMID 19942684 · PMC2817474 · Nucleic acids research · 2010 · 8 claims · 7 setups

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  Exogenous RPA4 expression does not support chromosomal DNA replication and causes cell-cycle arrest in G2/M

  hela mammalian rpa4 western flow immunofluorescence

• Genetic variants of Ehrlichia phagocytophila, Rhode Island and Connecticut.

  PMID 11996680 · PMC3369764 · Emerging infectious diseases · 2002 · 7 claims · 6 setups

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  All 50 E. phagocytophila-positive samples from Bridgeport, CT (1996-1998) had 16S rRNA sequences identical to the human agent (EP-ha).

  ixodes white-footed eastern pcr-positive nested sequencing cloning

• Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

  PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups

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  All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism

  genomic pcr-amplified ldlr blood long-range cycle diagnostic

• Molecular epidemiology and pathogenic potential of underdiagnosed human papillomavirus types.

  PMID 18601724 · PMC2491624 · BMC microbiology · 2008 · 8 claims · 7 setups

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  Many mucosal HPV types are missed by widely used commercial assays (HC2, INNO-LiPA, Amplicor/LA), causing substantial underdiagnosis of HPV infections

  genital clinical hpv patients pcr cycle sequence

• Genome-wide analysis of antisense transcription with Affymetrix exon array.

  PMID 18211689 · PMC2257944 · BMC genomics · 2008 · 8 claims · 4 setups

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  A modified cDNA synthesis protocol (ATE: Antisense Transcriptome analysis using Exon array), which skips the first-cycle cDNA synthesis and IVT amplification step, labels cDNA in reverse orientation, enabling Exon arrays to detect antisense transcripts

  jurkat exon orientation-specific

• A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

  PMID 16351727 · PMC1327677 · BMC genomics · 2005 · 8 claims · 5 setups

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  A qPCR method using unique-sequence primers can reproducibly detect chromosomal microdeletions and microduplications

  genomic genome pcr real-time fluorescence sequence

• Involvement of HTLV-I Tax and CREB in aneuploidy: a bioinformatics approach.

  PMID 16822311 · PMC1553470 · Retrovirology · 2006 · 8 claims · 6 setups

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  CTLL cells stably expressing wild-type Tax (CTLL/WT) show higher aneuploidy than a CREB-transactivation-deficient Tax clone (CTLL/703)

  ctll gene promoter metaphase microarray bioinformatics

• The EPHA2 gene is associated with cataracts linked to chromosome 1p.

  PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

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  A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

  family case-control genome-wide str pcr