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 21

System / cell line: unaffected ✕ Assay: genetic ✕ Clear

Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.

PMID 19750224 · PMC2735778 · PLoS pathogens · 2009 · 7 claims · 5 setups

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The IRGM −261TT genotype is negatively associated with (protective against) pulmonary TB caused by M. tuberculosis

pulmonary tuberculosis reporter genotyped case-control gene spoligotyping
Tailoring communication in consultations with women from high risk breast cancer families.

PMID 12189544 · PMC2376156 · British journal of cancer · 2002 · 8 claims · 5 setups

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Patient demographics were more likely to predict consultants' communication behaviours than the woman's psychological status

women genetic affected self-report audiotaped 8-item
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups

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A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.

colorectal formalin-fixed germline first-degree microsatellite immunohistochemistry mutation
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups

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Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14

south genomic family genetic direct bioinformatic
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups

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A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01

family genomic pcr genetic direct allele-specific
Macrophage migration inhibitory factor and autism spectrum disorders.

PMID 18676531 · PMC3816765 · Pediatrics · 2008 · 8 claims · 4 setups

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Functional MIF promoter polymorphisms (-794 CATT repeat and -173 G/C SNP) are genetically associated with ASD, particularly with stereotypical/repetitive behavior components

asd plasma genetic sandwich
Genetic and functional association of FAM5C with myocardial infarction.

PMID 18430236 · PMC2383879 · BMC medical genetics · 2008 · 8 claims · 5 setups

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SNPs within FAM5C show genetic linkage to and association with myocardial infarction in the GENECARD family-based sample

genecard cathgen donor aortic genome-wide case-control expression
Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups

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The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.

crp simplex same serum direct family-based linkage
A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.

PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups

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A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD

cases patients postmortem whole-genome cox linear
Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

PMID 20160442 · PMC4432877 · Cells, tissues, organs · 2010 · 8 claims · 5 setups

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A novel FAM83H nonsense mutation c.1374C>A (p.Y458X) in exon 5 is identified as the cause of AD hypocalcified amelogenesis imperfecta in this family

genomic sectioned tooth family sequencing scanning energy
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis

consanguineous patients ebv-transformed pbmcs genetic-linkage single-nucleotide-polymorphism candidate-gene
Variants in the vitamin D receptor gene and asthma.

PMID 15651992 · PMC546000 · BMC genetics · 2005 · 8 claims · 6 setups

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VDR gene variants are candidate risk factors for asthma/allergy because vitamin D effects are mediated through the VDR and VDR maps to the 12q asthma linkage region

individuals children parents transmission bronchial pulmonary
Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

PMID 18557994 · PMC2481495 · Breast cancer research : BCR · 2008 · 8 claims · 8 setups

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Mutation frequencies in ATM, BRIP1, PALB2 and CHEK2 are many times higher in women with strong breast cancer family history (familial cases) than in population controls.

women familial finnish unselected germline international statistical
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

family sural nefl-null sw-13 clinical genetic immunohistochemistry
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups

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A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.

patients genomic slit pcr
Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.

PMID 18759349 · PMC4554698 · Movement disorders : official journal of the Movement Disorder Society · 2008 · 8 claims · 5 setups

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Coffee drinking (ever/never or by cups/day) was not associated with PD susceptibility

blood-derived subjects matched genomic snp structured conditional
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

PMID 18636123 · PMC2467519 · Molecular vision · 2008 · 6 claims · 2 setups

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A heterozygous c.1915G>A mutation in exon 14 of TGFBI (p.G623D) causes an atypical form of RBCD in this Chinese family, distinct from previously reported phenotypes for the same mutation.

genomic family pcr clinical
Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.

PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups

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Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency

erythrocyte genomic peripheral erythrocytes sds-page non-denaturing direct
Multi-organ expression profiling uncovers a gene module in coronary artery disease involving transendothelial migration of leukocytes and LIM domain binding 2: the Stockholm Atherosclerosis Gene Expression (STAGE) study.

PMID 19997623 · PMC2780352 · PLoS genetics · 2009 · 8 claims · 6 setups

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Functionally associated gene modules, not individual genes, underlie CAD development and can be identified via multi-organ expression clustering

liver atherosclerotic 128-gene independent two-way gene bioinformatic
Human genetics branches out in Barcelona.

PMID 18710599 · PMC2575509 · Genome biology · 2008 · 8 claims · 8 setups

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A meta-analysis of three GWAS scans (DIAGRAM) identifies new type 2 diabetes susceptibility loci (JAZF1, CDC123/CAMK1D, ADAMTS9, THADA) with modest individual effect

patients families lymphoblastoid genome genome-wide gwas genetic

Experiments

Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.

Tailoring communication in consultations with women from high risk breast cancer families.

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

Macrophage migration inhibitory factor and autism spectrum disorders.

Genetic and functional association of FAM5C with myocardial infarction.

Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.

A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.

Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

Variants in the vitamin D receptor gene and asthma.

Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.

An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.

Multi-organ expression profiling uncovers a gene module in coronary artery disease involving transendothelial migration of leukocytes and LIM domain binding 2: the Stockholm Atherosclerosis Gene Expression (STAGE) study.

Human genetics branches out in Barcelona.