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 1.1k

System / cell line: patients ✕ Clear

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
Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

PMID 15842729 · PMC1097726 · BMC genomics · 2005 · 7 claims · 4 setups

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The ancestral haplotype AH 18.2 (DR3-TNFa1b5) confers significantly increased T1D risk compared to other DR3-positive haplotypes in the Spanish population.

blood same genotype hla microsatellite haplotype
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
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

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COMP mutations were identified in 78% of families referred with PSACH

genomic sequence subset pcr bidirectional sequence
G, N, and P gene-based analysis of Chandipura viruses, India.

PMID 15705335 · PMC3294343 · Emerging infectious diseases · 2005 · 8 claims · 4 setups

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The 2003 epidemic CHPV isolates are closely related to, and not very divergent from, the 1965 isolate, indicating the outbreak was not associated with extensive mutations in the G, N, and P genes.

chpv partial rt-pcr sequence phylogenetic
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

peripheral g2385r patients genotype pcr full clinical
Biomarkers that discriminate multiple myeloma patients with or without skeletal involvement detected using SELDI-TOF mass spectrometry and statistical and machine learning tools.

PMID 17124346 · PMC3862287 · Disease markers · 2006 · 8 claims · 5 setups

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SELDI-TOF MS serum profiling can discriminate MM patients with vs without skeletal (bone lesion) involvement using peak biomarkers

serum seldi seldi-tof serum univariate
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
The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.

PMID 17031395 · PMC2360566 · British journal of cancer · 2006 · 8 claims · 8 setups

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MYH-associated colorectal cancers can develop through either a chromosomal instability pathway or a microsatellite instability (MSI) pathway, contradicting the assumption that these are mutually exclusive.

lymphocyte colorectal tumour msi-positive pcr restriction microsatellite
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

genomic pcr-amplified tsc healthy dhplc direct pcr
Human metapneumovirus, Australia, 2001-2004.

PMID 16965711 · PMC3291208 · Emerging infectious diseases · 2006 · 8 claims · 5 setups

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HMPV had a 7.1% average annual incidence among 10,025 respiratory samples tested over 4 years

nasopharyngeal npa hmpv-positive reverse direct multiplex
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups

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The E320Q, Q463H, and L706S STAT1 alleles are intrinsically deleterious for both IFNG/GAF-mediated and IFNA/ISGF3-mediated immunity when tested in STAT1-deficient transfected cells

ebv-transformed sv40-transformed nuclear stat1-deficient cdna western immunofluorescence
Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.

PMID 16923191 · PMC1559722 · Cardiovascular ultrasound · 2006 · 7 claims · 4 setups

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ecNOS4a/b gene polymorphism is not associated with hypertension in Turkish patients

genomic hypertensive clinical pcr m-mode pulsed
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

PMID 16891820 · PMC2729898 · Journal of Korean medical science · 2006 · 7 claims · 7 setups

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All three unrelated Korean MM patients carried compound heterozygous mutations in the DYSF gene.

peripheral dysf chromosomes korean genomic pcr direct
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians.

PMID 16872505 · PMC1550395 · BMC medical genetics · 2006 · 7 claims · 7 setups

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Marginally significant (uncorrected) transmission distortion was found for four SNPs after stratification by HLA-DRB1*1501 status, disease course, or gender.

pooled australian independent trio pool snapshot snplex
MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

PMID 16834459 · PMC1502153 · PLoS medicine · 2006 · 8 claims · 8 setups

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A somatic activating mutation in MPL (W515L, transmembrane domain) is present in 9% (4/45) of JAK2V617F-negative myelofibrosis (MF) patients

granulocyte hapmap 32d balb sequencing genotyping proliferation
Disease-specific proteins from rheumatoid arthritis patients.

PMID 16778393 · PMC2729955 · Journal of Korean medical science · 2006 · 8 claims · 6 setups

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Fibronectin, semaphorin 7A precursor, growth factor receptor-bound protein 7 (GRB7), and immunoglobulin µ chain specifically associate with antibodies purified from RA synovial fluid

synovium synovial synoviocytes western affinity antibody-affinity
JAK2 V617F: a single mutation in the myeloproliferative group of disorders.

PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups

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A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis

blood haematopoietic granulocytes mpd pcr-direct sirna microsatellite
Assaying chromosomal inversions by single-molecule haplotyping.

PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups

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Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype

genomic yac haplotype pulsed template
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

peripheral genomic ebv-transformed conformation pira-pcr rt-pcr

Experiments

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

Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

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

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

G, N, and P gene-based analysis of Chandipura viruses, India.

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

Biomarkers that discriminate multiple myeloma patients with or without skeletal involvement detected using SELDI-TOF mass spectrometry and statistical and machine learning tools.

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

The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Human metapneumovirus, Australia, 2001-2004.

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians.

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

Disease-specific proteins from rheumatoid arthritis patients.

JAK2 V617F: a single mutation in the myeloproliferative group of disorders.

Assaying chromosomal inversions by single-molecule haplotyping.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.