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).

• 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

• A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

  PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

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  A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1

  peripheral genomic pcr direct pcr rflp

• Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

  PMID 18400097 · PMC2322962 · BMC medical genetics · 2008 · 7 claims · 5 setups

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  A novel heterozygous/homozygous KCNQ1 mutation, T322M (C965T, exon 7), was identified in a Chinese family with both RWS and JLNS

  genomic family direct pcr restriction

• Eurasian and African mitochondrial DNA influences in the Saudi Arabian population.

  PMID 17331239 · PMC1810519 · BMC evolutionary biology · 2007 · 8 claims · 4 setups

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  The majority (85%) of Saudi Arab mtDNA lineages have a western Asia (Eurasian) provenance

  saudi mtdna rflp complete

• Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

  PMID 18237401 · PMC2276215 · Lipids in health and disease · 2008 · 8 claims · 4 setups

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  Two distinct heterozygous frameshift mutations in CAV1 (I134fsdelA-X137 and -88delC) were identified in patients with atypical partial lipodystrophy and severe hypertriglyceridemia

  genomic sequence restriction allele-specific

• Mutation analysis of the MDM4 gene in German breast cancer patients.

  PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups

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  Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients

  german bilateral mdm4 lymphoid direct rflp-based splice

• Differentiating human from animal isolates of Cryptosporidium parvum.

  PMID 9866750 · PMC2640237 · Emerging infectious diseases · 1998 · 7 claims · 5 setups

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  Two distinct genotypes of C. parvum (human/anthroponotic and bovine/zoonotic) exist, distinguishable by TRAP-C2 gene sequence differences at five nucleotide positions.

  parvum cloned aligned fecal pcr pcr-rflp sequencing

• Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

  PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups

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  Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls

  genomic pcr patients dhplc cloning pcr-rflp

• Characterisation of p53 status at the gene, chromosomal and protein levels in oesophageal adenocarcinoma.

  PMID 14583777 · PMC2394414 · British journal of cancer · 2003 · 8 claims · 4 setups

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  p53 gene mutations are infrequent in oesophageal adenocarcinoma (9.6%)

  formalin-fixed oesophageal evaluable pooled rflp fluorescence immunohistochemistry

• A common missense variant in BRCA2 predisposes to early onset breast cancer.

  PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups

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  BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.

  peripheral blood-derived blood case-control genotyping sequencing mutation

• Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

  PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups

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  No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers

  peripheral pcr bacteremia pcr-rflp sequencing blood

• MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

  PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups

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  Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype

  blood a1555g lymphoblastoid nuclear pcr-rflp direct rt-pcr

• Hepatitis B virus genotypes circulating in Brazil: molecular characterization of genotype F isolates.

  PMID 18036224 · PMC2231365 · BMC microbiology · 2007 · 8 claims · 4 setups

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  Genotypes A, D, and F co-circulate in each of the five Brazilian geographic regions, with no other genotypes identified among 303 isolates

  serum hbv pcr-rflp nucleotide phylogenetic

• Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

  PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups

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  Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree

  genomic family myoc pcr-rflp sequencing clinical

• Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.

  PMID 19640310 · PMC2725355 · BMC genetics · 2009 · 8 claims · 4 setups

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  1311T is a frequent polymorphism in Pakistan both in subjects carrying G6PD Mediterranean mutation and in the general population

  peripheral blood pcr gene brilliant

• K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.

  PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups

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  K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event

  resected pcr-rflp-positive lung pcr-rflp direct selective

• A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

  PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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  The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

  microdissected resected non-tumor liver pcr-rflp immunohistochemistry western

• Joint association of polymorphism of the FGFR4 gene and mutation TP53 gene with bladder cancer prognosis.

  PMID 17088904 · PMC2360734 · British journal of cancer · 2006 · 8 claims · 5 setups

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  No clear correlation was found between the FGFR4 Gly388Arg genotype and risk of developing bladder cancer.

  blood bladder rflp manual genechip

• A novel approach for rapid screening of mitochondrial D310 polymorphism.

  PMID 16433919 · PMC1388229 · BMC cancer · 2006 · 7 claims · 4 setups

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  A single-step BsaXI RFLP assay can rapidly determine 7-C carriers at the D310 first polyC stretch of mtDNA without sequencing

  colorectal breast peripheral subset pcr-rflp sanger

• Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.

  PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups

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  Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia

  blood-derived case-control pcr-rflp direct pcr-based