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 31

System / cell line: blood ✕ Assay: pedigree ✕ Clear

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
Exome sequencing of a multigenerational human pedigree.

PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups

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Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree

genomic eluted captured pcr microarray-based qpcr next-generation
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups

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Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype

blood a1555g lymphoblastoid nuclear pcr-rflp direct rt-pcr
A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

PMID 17222328 · PMC1784097 · BMC cancer · 2007 · 7 claims · 8 setups

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A workflow combining Alohomora, Mega2, MENDEL, SNPLINK and SimWalk2 enables linkage analysis with high-density SNP arrays in large pedigrees (>35-40 bits) that exceed the capacity of single existing programs

peripheral pedigree nuclear family snp two-point multipoint
The EPHA2 gene is associated with cataracts linked to chromosome 1p.

PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

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A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

family case-control genome-wide str pcr
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups

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A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients

blood-extracted family 8-member pde6-deficient arrp direct pedigree
Population carrier frequency of hMSH2 and hMLH1 mutations.

PMID 11104559 · PMC2363440 · British journal of cancer · 2000 · 6 claims · 6 setups

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Population carrier frequency of hMSH2/hMLH1 mutations in people aged 15-74 years is estimated at 1:3139 (95% CI 1:1247-1:7626)

peripheral scottish finnish baltimore cdna pedigree systematic
Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 18627636 · PMC2575532 · Breast cancer research : BCR · 2008 · 8 claims · 5 setups

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27 deleterious BRCA1/BRCA2 mutations were detected in 28 breast cancer patients (14 in BRCA1, 13 in BRCA2) among 187 tested

blood-derived family brca1 direct multiplex boadicea
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups

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A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.

genomic patients pcr clinical genomic
Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups

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Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls

peripheral ceph individuals cases strp genotyping fluorescent
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups

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BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK

genomic pedigrees first-degree study pcr pedigree-based age
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups

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Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families

peripheral genomic six individuals sequencing pcr microsatellite
Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study.

PMID 18768181 · PMC2699582 · Atherosclerosis · 2009 · 8 claims · 6 setups

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COX-2 promoter SNP rs689466 is associated with lower coronary calcified plaque (CorCP)

whole-blood-derived subjects dhs unrelated snp coronary carotid
BRCA1 mutations in southern England.

PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups

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Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone

genomic pcr clinical heteroduplex sequencing pcr
Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

PMID 11381192 · PMC3851408 · Disease markers · 2000 · 6 claims · 5 setups

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Multiplex PCR screening of 18 dystrophin exons detected deletions in 55% of 100 Egyptian DMD/BMD families

genomic egyptian same peripheral multiplex clinical electromyography
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
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups

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Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A

genomic pedigree proband pcr denaturing dhplc
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

family genomic clinical microsatellite direct
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
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

Experiments

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

Exome sequencing of a multigenerational human pedigree.

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

Population carrier frequency of hMSH2 and hMLH1 mutations.

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study.

BRCA1 mutations in southern England.

Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

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

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

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

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