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 34

System / cell line: sequencing ✕ Assay: bidirectional ✕ Clear

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

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TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

arci unrelated dog direct sequence blast
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

peripheral blood-derived folliculin chest direct subcloning sequence
A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

PMID 17615540 · PMC2768755 · Molecular vision · 2007 · 8 claims · 4 setups

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A novel heterozygous C260T substitution in GJA3, causing a Thr87Met (T87M) change, is associated with a distinct 'pearl box' cataract phenotype in family CC-472.

genomic patients connexin bidirectional restriction clinical
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

PMID 18334946 · PMC2255026 · Molecular vision · 2008 · 8 claims · 4 setups

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A novel heterozygous c.134G→C change in GJA8, causing p.W45S, was identified as the disease-associated mutation in the affected family

genomic patients ethnically connexin50 bidirectional clinical sanger
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

PMID 18211709 · PMC2248204 · BMC neurology · 2008 · 6 claims · 4 setups

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Pathogenic mutations in PRKN and LRRK2, but not SNCA or PINK1, are found in a Portuguese cohort of early-onset/familial PD patients

genomic cohort bidirectional targeted gene
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
Association of GSK3B with Alzheimer disease and frontotemporal dementia.

PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups

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The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort

genomic case-control family-based sib-pair pcr allele-specific fluorescence-polarization
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups

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A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.

genomic laser-capture cell-free hela sscp loss transcription
Application of machine learning in SNP discovery.

PMID 16398931 · PMC1955739 · BMC bioinformatics · 2006 · 8 claims · 6 setups

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PolyBayes produces high false-positive SNP predictions even with stringent parameters

diverse soybean candidate same sts polybayes polyphred
Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

genomic healthy irish case mutation direct taqman
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups

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OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.

genomic ghanaian pcr taqman logistic
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups

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A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant

genomic same chx10 pacg pcr case-control cross-species
Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.

PMID 16225677 · PMC1274336 · BMC psychiatry · 2005 · 8 claims · 3 setups

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Systematic mutation screening of KIAA0767 and KIAA1646 was performed in chromosome 22q-linked periodic catatonia pedigrees

genomic unrelated systematic case-control
Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

PMID 17088437 · PMC2705832 · Molecular cancer therapeutics · 2006 · 8 claims · 3 setups

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137 oncogenic mutations were identified across 14 of 24 screened cancer genes (APC, BRAF, CDKN2A, CTNNB1, HRAS, KRAS, NRAS, SMAD4, PIK3CA, PTEN, RB1, STK11, TP53, VHL) in the NCI-60 panel

nci-60 pcr multiplex snp
Evaluation of EGR1 as a candidate gene for high myopia.

PMID 18636116 · PMC2464612 · Molecular vision · 2008 · 6 claims · 1 setups

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EGR1/ZENK is upregulated to inhibit axial eye growth (STOP signal) and downregulated during axial elongation in animal models of experimentally induced myopia

genomic pcr
INI1 mutations in meningiomas at a potential hotspot in exon 9.

PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups

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A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.

meningioma re-extracted sscp direct pcr
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

pfm selected point-mutation-negative family dhplc bidirectional multiplex
Beta-catenin nuclear labeling is a common feature of sessile serrated adenomas and correlates with early neoplastic progression after BRAF activation.

PMID 19745699 · PMC2788075 · The American journal of surgical pathology · 2009 · 8 claims · 3 setups

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Abnormal nuclear β-catenin labeling is common in SSAs but essentially absent in hyperplastic polyps (HPs)

colorectal microdissected archival immunohistochemistry pcr histopathologic
Co-regulation and function of FOXM1/RHNO1 bidirectional genes in cancer.

PMID 33890574 · PMC8104967 · eLife · 2021 · 8 claims · 8 setups

Has reproduction · 76

FOXM1 and RHNO1 are head-to-head bidirectional genes co-amplified and co-expressed in HGSC, regulated by a shared bidirectional promoter (F/R-BDP).

tcga ft282 fte hgsc copy expression rt-qpcr
Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.

PMID 38548265 · PMC11954816 · Journal of advanced research · 2025 · 7 claims · 8 setups

Has reproduction · 79

Meta-analysis confirms a positive bidirectional association between DED and DEP (DED patients have increased DEP prevalence and vice versa).

studies taiwan twb ded meta-analysis genome-wide conditional

Experiments

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

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

Association of GSK3B with Alzheimer disease and frontotemporal dementia.

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

Application of machine learning in SNP discovery.

Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Evaluation of EGR1 as a candidate gene for high myopia.

INI1 mutations in meningiomas at a potential hotspot in exon 9.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Beta-catenin nuclear labeling is a common feature of sessile serrated adenomas and correlates with early neoplastic progression after BRAF activation.

Co-regulation and function of FOXM1/RHNO1 bidirectional genes in cancer.

Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.