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 77

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

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
Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups

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Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2

genomic available leukocytes affected linkage pcr single
Integrative analysis of RUNX1 downstream pathways and target genes.

PMID 18671852 · PMC2529319 · BMC genomics · 2008 · 7 claims · 8 setups

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Integrating gene expression profiles from three independent RUNX1 perturbation platforms (FPD-AML patient cell lines, RUNX1/CBFβ overexpression in HeLa cells, Runx1 knockout mouse embryos) identifies RUNX1-regulated genes and downstream pathways

lymphoblastic hela runx1 aml cdna microarray affymetrix
Microglia-containing cerebral organoids derived from induced pluripotent stem cells for the study of neurological diseases.

PMID 36936782 · PMC10014280 · iScience · 2023 · 8 claims · 8 setups

Has reproduction · 74

A novel protocol using FGF/EGF/heparin growth factor supplementation and 10% CO2 culture generates cerebral organoids containing neurons, astrocytes, and microglia from iPSCs/hESCs

hesc-derived hesc als-pdc-affected cerebral microarray immunostaining bulk
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups

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c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one

peripheral cos-7 direct confocal co-localization
Novel mutations in GJA1 cause oculodentodigital syndrome.

PMID 18946008 · PMC2588666 · Journal of dental research · 2008 · 8 claims · 3 setups

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Heterozygous missense mutations in GJA1 were found in all analyzed ODD-affected individuals across ten unrelated families

odd wild-type pups pcr immunofluorescence
Diagnostic proteomics: serum proteomic patterns for the detection of early stage cancers.

PMID 15258335 · PMC3851082 · Disease markers · 2003 · 8 claims · 8 setups

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Proteomic pattern analysis of serum mass spectra, without identifying the underlying proteins, can distinguish cancer patients from healthy controls with high sensitivity and specificity.

serum frozen ig-depleted clinical seldi-tof maldi lc-ms
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups

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kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.

germline unaffected index randomly brca1 tyrer-cuzick strp
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups

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Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples

genomic pcr additional cat linkage direct heteroduplex
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups

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A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family

genomic basotho pcr restriction secondary
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

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A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

peripheral genomic microsatellite direct mutation
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

genomic unaffected pcr targeted restriction
A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

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A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1

peripheral genomic pcr direct pcr rflp
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

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Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

french index unaffected mutation-carrier mutation microsatellite haplotype
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups

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Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families

genomic family ethnically affected genotyping two-point sanger
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups

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Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.

genomic affected patients linkage direct snp
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups

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A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family

four-generation genomic crygd wild-type genotyping direct denaturing
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups

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The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.

8-year-old muscle lower skeletal molecular immunostaining electromyogram
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups

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TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes

pakistani affected retina tissues linkage sanger race
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

Experiments

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

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

Integrative analysis of RUNX1 downstream pathways and target genes.

Microglia-containing cerebral organoids derived from induced pluripotent stem cells for the study of neurological diseases.

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Novel mutations in GJA1 cause oculodentodigital syndrome.

Diagnostic proteomics: serum proteomic patterns for the detection of early stage cancers.

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

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