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).

• Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.

  PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups

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  HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals

  genomic genotype 293t pcr-amplified pcr haplotype cell-cell

• Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

  PMID 17010193 · PMC1599749 · BMC cancer · 2006 · 8 claims · 4 setups

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  No germline deleterious mutations were identified in the ATR coding region among 54 non-BRCA1/2 high-risk French Canadian breast cancer cases.

  genomic ebv-transformed normal direct linkage rt-pcr

• mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice.

  PMID 19763141 · PMC2909846 · Journal of human genetics · 2009 · 8 claims · 8 setups

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  The G10398A cybrid shows slower proliferation and delayed cell cycle progression (G1 accumulation, decreased G2/M) compared to wild-type G10398 cybrid

  blood mitochondria g10398a cybrid pcr cybrid spectrophotometric

• Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

  PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

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  Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

  genomic frozen skeletal korean direct rt-pcr-based pcr-restriction

• A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

  PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups

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  A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.

  genomic cornea corneas blood direct pcr laser

• A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

  PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

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  The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

  peripheral cos-7 dhplc immunofluorescence

• 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

• Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

  PMID 18977788 · PMC2743849 · The British journal of ophthalmology · 2009 · 7 claims · 5 setups

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  ABCA4 carrier-frequency-based prevalence estimates of arSTGD (1:1000 and 1:870) are substantially higher than the previously reported phenotypic prevalence of 1:10,000

  healthy spanish arstgd denaturing-hplc abcr400 direct

• Mitochondrial DNA aberrations of bone marrow cells from patients with aplastic anemia.

  PMID 19119453 · PMC2610644 · Journal of Korean medical science · 2008 · 7 claims · 3 setups

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  Bone marrow cells from AA patients show significantly more mtDNA aberrations (mean=25.6) than healthy controls (mean=12.8)

  bone buccal mtdna direct sequence

• 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

• Mutations of the Igbeta gene cause agammaglobulinemia in man.

  PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups

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  A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient

  genomic drosophila pbmcs sorted pcr transfection flow

• Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.

  PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups

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  CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population

  genomic hut78 t-cells direct pcr dual

• Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

  PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups

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  CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families

  genomic relative p16ink4a pcr pearson student's

• 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

• Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

  PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups

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  Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed

  genomic hela itgb1bp2 melusin direct minigene in-silico

• Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.

  PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups

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  NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations

  tanzanian a549 muheza-tanga sscp pcr restriction

• Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

  PMID 19808356 · PMC2765062 · Circulation. Heart failure · 2009 · 8 claims · 4 setups

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  Myofilament protein levels (MYBPC3 and MYH7) are increased, not decreased, in HCM patients carrying a mutation in either gene compared to healthy heart tissue

  genomic lysate formalin-fixed myectomy mutational western immunohistochemistry

• Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.

  PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups

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  Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent

  genomic same healthy direct genome-wide

• The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

  PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups

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  No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls

  genomic pcr genotype pcr-based direct pcr

• No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.

  PMID 11961312 · PMC3054847 · Journal of Korean medical science · 2002 · 5 claims · 4 setups

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  FXIII Val34Leu polymorphism is absent or rare in both PICH patients and healthy controls among Koreans

  genomic pcr randomly pich pcr single-stranded direct