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).

Publications 1.3k Datasets 392.5k Experiments 903

System / cell line: blood ✕ Clear

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
Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups

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Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations

genomic pcr-amplified pcr truncation single-strand heteroduplex
The minisequencing method: a simple strategy for genetic screening of MEN 2 families.

PMID 12042015 · PMC116428 · BMC genetics · 2002 · 6 claims · 4 setups

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Minisequencing reproduces the same mutation information obtained by direct sequencing of PCR products at RET codons 634 and 918 in all tested MEN 2 family members.

genomic pcr same white pcr minisequencing direct
A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups

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A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma

peripheral tumour u87mg baf3 pcr microsatellite proliferation
Fingerprinting cancer development.

PMID 14694892 · PMC1241638 · Environmental health perspectives · 2003 · 8 claims · 6 setups

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Protein microarrays can detect phosphoprotein fingerprints that identify early-stage cancer or monitor drug toxicity.

prostate blood model genes microarray proteomic gene
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 common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation.

PMID 14521712 · PMC212228 · Molecular cancer · 2003 · 6 claims · 5 setups

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Pro582Ser is a common HIF-1α ODD-domain polymorphism occurring at similar frequency in idiopathic erythrocytosis patients (0.109) and normal controls (0.073)

genomic recombinant 35s-labeled sanger pcr-rflp gst
Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.

PMID 12589088 · PMC3054991 · Journal of Korean medical science · 2003 · 6 claims · 5 setups

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The t-PA I/D or D/D genotype is significantly associated with duodenal (vs gastric) ulcer location

genomic randomly patients endoscopic allele-specific pcr logistic
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
Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups

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An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)

genomic arci pcr clinical pedigree
Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups

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Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number

genomic peripheral quantitative multiplex pcr-restriction
Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

PMID 15598343 · PMC544190 · BMC genetics · 2004 · 6 claims · 4 setups

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A novel TaqMan allelic discrimination assay can reliably genotype the MnSOD -102C>T SNP from diverse DNA sources including blood, buccal swabs, frozen tissue, and paraffin blocks.

genomic paraffin-embedded taqman pcr-restriction automated
Multiplexed genetic analysis using an expanded genetic alphabet.

PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups

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MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h

genomic synthetic subset newborn multicode eracode automated
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
PAX6 gene variations associated with aniridia in south India.

PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

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Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

genomic pcr aniridia sscp automated allele-specific
X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.

PMID 14966353 · PMC2822247 · Journal of Korean medical science · 2004 · 8 claims · 7 setups

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The patient's X-SCID is caused by a C690T point mutation in exon 5 of the γc chain gene, producing an R226C amino acid substitution.

pbmcs mother serum fetal flow direct pcr-rflp
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
Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

PMID 16277682 · PMC1297578 · Arthritis research & therapy · 2005 · 6 claims · 4 setups

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The M404V mutation in p62/SQSTM1 exon 8 segregates with the polyostotic form of PDB in the F01 Italian family

genomic serum affected pcr pcr biochemical clinical
Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

PMID 16212661 · PMC1282566 · BMC genetics · 2005 · 8 claims · 4 setups

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The previously proposed P2-specific markers -551_-550insC and -160A>G do not correlate with P1/P2 phenotype, since they occur homozygously in many P1 individuals too

genomic erythrocytes direct pcr pcr-asp
Identification of HLA-DRPhebeta47 as the susceptibility marker of hypersensitivity to beryllium in individuals lacking the berylliosis-associated supratypic marker HLA-DPGlubeta69.

PMID 16098233 · PMC1198259 · Respiratory research · 2005 · 7 claims · 4 setups

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HLA-DPGlu69 is the primary marker of Be-hypersensitivity, present at higher frequency in berylliosis patients than in Be-sensitized subjects and Be-exposed controls

pbmc peripheral population high beryllium lymphocyte

Experiments

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

Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

The minisequencing method: a simple strategy for genetic screening of MEN 2 families.

A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

Fingerprinting cancer development.

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.

A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation.

Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.

Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.

Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

Multiplexed genetic analysis using an expanded genetic alphabet.

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

PAX6 gene variations associated with aniridia in south India.

X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.

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

Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

Identification of HLA-DRPhebeta47 as the susceptibility marker of hypersensitivity to beryllium in individuals lacking the berylliosis-associated supratypic marker HLA-DPGlubeta69.