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).

• 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

• The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

  PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups

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  The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association

  peripheral clinical pcr-rflp single sequencing

• Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population.

  PMID 18776593 · PMC3827795 · Disease markers · 2008 · 8 claims · 5 setups

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  The CNR1 4895G allele is associated with waist-to-hip ratio (WHR)

  peripheral same pcr-rflp anthropometric biochemical

• HFE H63D mutation frequency shows an increase in Turkish women with breast cancer.

  PMID 16503999 · PMC1402308 · BMC cancer · 2006 · 6 claims · 2 setups

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  HFE H63D allele frequency is significantly higher in Turkish breast cancer patients (22.2%) than in healthy controls (14%)

  archived same pcr-rflp statistical

• Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

  PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

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  The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

  genomic same pooled pcr-rflp pcr-based cross-tabulation

• Association study of T102C 5-HT(2A) polymorphism in schizophrenic patients: diagnosis, psychopathology, and suicidal behavior.

  PMID 17506229 · PMC3181846 · Dialogues in clinical neuroscience · 2007 · 7 claims · 4 setups

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  The T102C 5-HT2A genotype/allele frequencies were not associated with suicide attempt history or suicide attempt characteristics (lethality, violence) in schizophrenic patients.

  lymphocyte schizophrenic pcr-rflp structured brief

• Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.

  PMID 16778401 · PMC2729963 · Journal of Korean medical science · 2006 · 6 claims · 5 setups

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  Genetic polymorphisms of the GABA A α1 and α6 receptor genes are significantly associated with alcohol dependence, surviving Bonferroni correction.

  genomic hospitalized pcr-rflp structured

• ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

  PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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  A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

  genomic red computational abo sequencing blood

• A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.

  PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups

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  A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing

  blood variant patients same sscp sanger pcr-rflp

• Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

  PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups

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  Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)

  hypertensive lymphocytes βenac xenopus targeted pcr-rflp plasma

• The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.

  PMID 15665388 · PMC3839324 · Disease markers · 2004 · 6 claims · 3 setups

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  The MMP-3 -1612 5A/6A polymorphism is not associated with ischaemic heart disease in an Irish population.

  peripheral family extended pcr-rflp combined pedigree

• Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility.

  PMID 1486838 · PMC1519624 · Environmental health perspectives · 1992 · 7 claims · 8 setups

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  A PCR-RFLP DNA-based assay targeting the intron 3/exon 4 G-to-A transition can identify approximately 70-80% of CYP2D6 poor metabolizers (PMs) without drug phenotyping.

  blood pcr-rflp

• Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

  PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups

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  A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.

  asian random subjects unrelated arms-pcr msei sanger

• Alstrom syndrome (OMIM 203800): a case report and literature review.

  PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups

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  The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome

  genomic healthy proband pcr pcr-rflp plasma

• 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

• Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.

  PMID 12546713 · PMC149362 · BMC genetics · 2003 · 8 claims · 7 setups

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  PIGR is a nasopharyngeal cancer susceptibility gene

  genomic npc genotype pcr-rflp arms case-control

• 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

• Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients.

  PMID 11161376 · PMC2363715 · British journal of cancer · 2001 · 6 claims · 4 setups

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  No SRC codon 531 mutation was detected in any of 155 Italian colorectal cancer cases (171 tissue specimens, primary tumours and liver metastases)

  colorectal liver scalar subset pcr-rflp direct

• Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.

  PMID 15563733 · PMC544357 · BMC biotechnology · 2004 · 8 claims · 6 setups

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  A single-track sequencing (SSR) strategy on one PCR product can simultaneously address 24 genetic variants in the NAT1 gene using paired terminator tracks (A/G for coding region, A/T for 3' flanking region)

  genomic nat1 same pcr single-track single

• A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

  PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups

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  A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.

  genomic proband pcr pcr-rflp bone