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).

• MDM2 overexpression with alteration of the p53 protein and gene status in oral carcinogenesis.

  PMID 10835493 · PMC5926374 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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  MDM2 and p53 protein expression significantly increase in accordance with histological progression from normal mucosa to dysplasia to SCC.

  oral paraffin-embedded rt-pcr-sscp direct restriction

• A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

  PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups

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  The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)

  liver genomic peripheral liver g6pase glucose-loading

• A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.

  PMID 17686168 · PMC1995191 · BMC medical genetics · 2007 · 7 claims · 5 setups

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  A novel mutation c.49C>T (p.Pro17Ser) in exon 1 of DSPP causes type II DGI in this Chinese family.

  family genomic affected linkage direct pcr

• A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

  PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups

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  A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients

  blood-extracted family 8-member pde6-deficient arrp direct pedigree

• Role of p16/MTS1, cyclin D1 and RB in primary oral cancer and oral cancer cell lines.

  PMID 10389982 · PMC2363027 · British journal of cancer · 1999 · 7 claims · 5 setups

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  p16/MTS1 mutations and loss of expression are very common in OSCC cell lines and less frequent in primary OSCC tumours

  oscc same frozen pcr western extraction

• Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

  PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups

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  A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members

  peripheral pcr-amplified patients serum nucleotide restriction serum

• The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

  PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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  The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

  peripheral brca1 same simulated fluorescent cox weighted

• Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

  PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups

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  Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.

  peripheral case molecular continuous serum

• Alcohol consumption and breast tumor mitochondrial DNA mutations.

  PMID 19847642 · PMC4403627 · Breast cancer research and treatment · 2010 · 8 claims · 6 setups

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  Somatic mtDNA mutations are a frequent occurrence in breast tumors

  breast paraffin-embedded blood study ttge sequencing immunohistochemistry

• Probing the cancer genome.

  PMID 18492227 · PMC2441462 · Genome biology · 2008 · 8 claims · 8 setups

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  Combined Sanger and 454 pyrosequencing of MCF-7 BAC clones identified 157 PCR-confirmed translocation breakpoint junctions, including 10 in-frame junctions confirmed at the transcript level

  mcf-7 tumor lung oral sanger solexa gistic

• Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

  PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups

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  16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis

  genomic gck fasting pediatric direct molecular biochemical