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 38

System / cell line: blood-derived ✕ Assay: analysis ✕ Clear

Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans.

PMID 18510744 · PMC2424074 · BMC genetics · 2008 · 7 claims · 4 setups

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Sequencing the TPI1 locus in 357 German long-lived individuals identified 17 polymorphisms, 15 of which were rare and previously unknown

blood-derived cohort pcr snplex taqman
Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

PMID 8641976 · PMC5921130 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 3 setups

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Four of five Japanese VHL disease families showed germ line VHL gene mutations, comprising 2 missense mutations, 1 deletion, and 1 splice-site mutation

blood-derived hemangioblastoma single-strand direct sscp
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

peripheral brca1 same simulated fluorescent cox weighted
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups

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A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3

pakistani affected unrelated one microsatellite sanger mutation
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

PMID 17653048 · PMC2776539 · Molecular vision · 2007 · 8 claims · 4 setups

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No RP patient among 68 Japanese subjects carried a RHO mutation causing an amino acid substitution

blood-derived genomic chromosomes rho whole-locus pcr haplotype
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups

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The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541

four-generation bfsp2 wild-type microsatellite direct denaturing
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

families affected tmc1 tjp2 genetic sequencing multiplex
A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

PMID 19668596 · PMC2722711 · Molecular vision · 2009 · 8 claims · 6 setups

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A novel heterozygous CRYGD mutation c.43C>A (R15S) causes congenital coralliform cataract in Family A

family genomic crygd lens two-point microsatellite direct
Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

PMID 17901921 · PMC3451673 · The journal of headache and pain · 2007 · 8 claims · 3 setups

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The HTR2C Cys23Ser polymorphism is not significantly associated with migraine or migraine with aura in the case-control study

blood-derived migraine pooled allelic case-control meta-analysis
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

family peripheral patients microsatellite pcr clinical
Expanding CEP290 mutational spectrum in ciliopathies.

PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.

peripheral genomic quantitative cdna pcr
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups

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A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19

affected family rp19 selected genome-wide microsatellite direct
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

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NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

PMID 18818683 · PMC2756756 · Kidney international · 2008 · 8 claims · 8 setups

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Developed an MLPA assay with PKD1 exon 1-33 probes designed at single base-pair mismatches with the six PKD1 pseudogenes to achieve locus specificity

blood-derived blood crisp father mlpa long-range field
Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

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The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional
A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.

PMID 18667089 · PMC2533022 · BMC genomics · 2008 · 7 claims · 2 setups

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HFCC is a method/software for genome-wide epistasis detection using case-control multi-locus association analysis, combining a fast computing algorithm with flexibility to test a variety of epistatic models.

blood-derived simulated genome-wide simulation-based
V-MitoSNP: visualization of human mitochondrial SNPs.

PMID 16907992 · PMC1564046 · BMC bioinformatics · 2006 · 6 claims · 4 setups

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V-MitoSNP integrates RFLP genotyping information with mitochondria-related cancer/disease data in a user-friendly, interactive, color-coded visual web interface

blood blood-derived mtdna standard agarose rflp
Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.

PMID 18948608 · PMC2629798 · Stroke · 2009 · 8 claims · 4 setups

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Genomewide linkage analysis in 26 multiplex IA families with AA-affected members identified LOD peaks on chromosome 11 (LOD=3.0) and chromosome 6 (LOD=2.3) using a broad IA/AA-combined phenotype

multiplex individuals fia subjects genomewide snp medical
Predictive genomics of cardioembolic stroke.

PMID 19064790 · PMC2752697 · Stroke · 2009 · 8 claims · 4 setups

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A Bayesian network multivariate model achieves 86% predictive accuracy (AUC) for cardioembolic stroke on fitted values

blood-derived gasros same custom bayesian roc
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

blood-derived patient-derived serum genomic direct rt-pcr gelatin

Experiments

Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans.

Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

Expanding CEP290 mutational spectrum in ciliopathies.

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.

V-MitoSNP: visualization of human mitochondrial SNPs.

Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.

Predictive genomics of cardioembolic stroke.

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.