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 78

Assay: segregation ✕ Clear

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.

PMID 17686168 · PMC1995191 · BMC medical genetics · 2007 · 7 claims · 5 setups

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A novel mutation c.49C>T (p.Pro17Ser) in exon 1 of DSPP causes type II DGI in this Chinese family.

family genomic affected linkage direct pcr
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
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
Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups

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A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals

consanguineous same affected family sanger multiplex microsatellite
The molecular landscape of ASPM mutations in primary microcephaly.

PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups

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ASPM mutations are the most common cause of MCPH

consanguineous genomic parents one polymorphic sanger family
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
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

genomic family carrier jarid1c dhplc allele-specific restriction
CNGA3 mutations in two United Arab Emirates families with achromatopsia.

PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups

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Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val

achromatopsia genomic hek293 clinical pcr segregation
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
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

PMID 18509552 · PMC2391085 · Molecular vision · 2008 · 7 claims · 7 setups

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Point mutations and small insertions/deletions in TOPORS cause approximately 1% of adRP

genomic unrelated additional patients fluorescent multiplex sequencing
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups

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A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.

genomic tulp1 y79 haplotype direct mismatch-primer
Evaluation of two methods for computational HLA haplotypes inference using a real dataset.

PMID 18230173 · PMC2268655 · BMC bioinformatics · 2008 · 8 claims · 5 setups

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PHASE v2.1.1 had the best overall performance in both haplotype construction and frequency calculation compared to Arlequin V3.0

genotypic unrelated computational 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
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia

blood parents sox2-mutation-positive pcr parental clinical
Construction of a high-resolution genetic linkage map and comparative genome analysis for the reef-building coral Acropora millepora.

PMID 19900279 · PMC3091320 · Genome biology · 2009 · 8 claims · 6 setups

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This is the first genetic linkage map constructed for any coral species or any non-Bilaterian animal

acropora millepora coral snp genetic segregation
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
A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

PMID 19864672 · PMC2793117 · The New England journal of medicine · 2009 · 7 claims · 7 setups

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A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.

family patients peripheral-blood peripheral snp microsatellite sanger
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

Full-text index only

DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

genomic pcr polycystin-1 czech denaturing sanger family
Mutually exclusive teams-like patterns of gene regulation characterize phenotypic heterogeneity along the noradrenergic-mesenchymal axis in neuroblastoma.

PMID 38230570 · PMC10795782 · Cancer biology & therapy · 2024 · 8 claims · 6 setups

Has reproduction · 87

NOR-specific and MES-specific gene expression patterns are largely mutually exclusive, exhibiting a teams-like behavior across multiple bulk NB transcriptomic datasets

lines bulk single-cell housekeeping bulk pca single-sample
Extensive variation between chromosomes of North American and European hop.

PMID 42204144 · PMC13216280 · Nature communications · 2026 · 8 claims · 8 setups

Has reproduction · 87

Chromosome-scale, haplotype-resolved genome assemblies of the hybrid hop cultivar Apollo were generated using hifiasm, ALLHiC, and TRITEX pipelines with PacBio HiFi and Hi-C data

hop feral biparental accessions pacbio busco fluorescence

Experiments

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.

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

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

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

The molecular landscape of ASPM mutations in primary microcephaly.

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

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

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

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

Evaluation of two methods for computational HLA haplotypes inference using a real dataset.

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

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Construction of a high-resolution genetic linkage map and comparative genome analysis for the reef-building coral Acropora millepora.

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

A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Mutually exclusive teams-like patterns of gene regulation characterize phenotypic heterogeneity along the noradrenergic-mesenchymal axis in neuroblastoma.

Extensive variation between chromosomes of North American and European hop.