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 24

System / cell line: peripheral-blood ✕ Assay: score ✕ Clear

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups

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The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap

peripheral genomic pcr leukocytes two-point direct 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
Analysis of X chromosome inactivation in autism spectrum disorders.

PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups

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No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls

genomic multiplex mecp2 four chromosome non-parametric mutation
Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.

PMID 26969729 · PMC4812528 · Molecular systems biology · 2016 · 8 claims · 6 setups

Has reproduction · 67

Cell adhesion pathways are significantly and consistently dysregulated in women who develop familial breast cancer (FBC)

peripheral pbmcs normal mammary gene exome western
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups

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Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)

peripheral wecare atm mutation case-control variant
The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.

PMID 19842028 · PMC3719969 · Behavior genetics · 2010 · 8 claims · 5 setups

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Among ever-smoking controls, A1 and B1 genotypes were associated with greater smoking intensity and younger age at smoking initiation than A2A2/B2B2

peripheral bladder current genotype pcr-rflp structured fagerström
Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups

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Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men

peripheral population-based same germline epidemiological genotype-phenotype
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
Specific signature biomarkers highlight the potential mechanisms of circulating neutrophils in aneurysmal subarachnoid hemorrhage.

PMID 36438795 · PMC9685413 · Frontiers in pharmacology · 2022 · 8 claims · 8 setups

Has reproduction · 80

A neutrophil-related co-expression gene module (blue module) is significantly associated with aSAH occurrence

peripheral genes overlapping neutrophil-related microarray weighted kegg
Identification of intrinsic genes across general hypertension, hypertension with left ventricular remodeling, and uncontrolled hypertension.

PMID 36277786 · PMC9582241 · Frontiers in cardiovascular medicine · 2022 · 7 claims · 8 setups

Has reproduction · 73

FBXW4 and 13 other genes are uniquely enriched in the general hypertension group

peripheral white four gse75360 microarray gene weighted
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
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups

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A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members

peripheral pcr-amplified patients serum nucleotide restriction serum
Evaluating Distribution and Prognostic Value of New Tumor-Infiltrating Lymphocytes in HCC Based on a scRNA-Seq Study With CIBERSORTx.

PMID 33043022 · PMC7527443 · Frontiers in medicine · 2020 · 6 claims · 8 setups

Has reproduction · 78

CIBERSORTx can combine scRNA-seq-derived signature matrices with bulk RNA-seq data to estimate proportions of 11 TIL subsets in HCC tumor and normal tissue

tcga degs cd4-gzma prognostic scrna-seq cibersortx differential
Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

PMID 20057908 · PMC2802296 · Molecular vision · 2009 · 8 claims · 4 setups

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Mutations in CYP1B1 are a major cause of PCG in the studied patient cohort

genomic cyp1b1 pcg pcr missense clinical
Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets.

PMID 35672799 · PMC9175345 · Genome biology · 2022 · 8 claims · 7 setups

Has reproduction

CD4+ T cells and B cells independently and significantly contribute to MS GWAS heritability enrichment, distinct from a merely shared immune regulatory landscape.

flow-sorted cd4+ hematopoietic gwas bulk atac-seq stratified
To Explore the Key Subgroup and Their Immune Microenvironment During the Formation of Coronary Plaque With scRNA-seq.

PMID 40454289 · PMC12126265 · Cardiology research and practice · 2025 · 6 claims · 8 setups

Has reproduction · 33

C1 RACK1+ NK cells are a crucial subgroup for understanding coronary plaque formation, exhibiting the highest cell stemness/differentiation potential and positioned at the start of the pseudotime trajectory

coronary scrna-seq five type single-cell doublet copy
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups

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NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay

leukocyte peripheral serum plasma gene enzyme chitotriosidase
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
Analysis of proteomic profiles and functional properties of human peripheral blood myeloid dendritic cells, monocyte-derived dendritic cells and the dendritic cell-like KG-1 cells reveals distinct characteristics.

PMID 17331236 · PMC1868942 · Genome biology · 2007 · 8 claims · 8 setups

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moDCs and KG-1 cells show significant proteomic differences from primary mDCs, particularly in proteins involved in cell growth/maintenance and cell-cell interaction/integrity.

mdcs mdc freshly peripheral two-dimensional maldi-tof capture
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

blood-derived patient-derived serum genomic direct rt-pcr gelatin

Experiments

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

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

Analysis of X chromosome inactivation in autism spectrum disorders.

Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.

Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.

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

Specific signature biomarkers highlight the potential mechanisms of circulating neutrophils in aneurysmal subarachnoid hemorrhage.

Identification of intrinsic genes across general hypertension, hypertension with left ventricular remodeling, and uncontrolled hypertension.

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

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

Evaluating Distribution and Prognostic Value of New Tumor-Infiltrating Lymphocytes in HCC Based on a scRNA-Seq Study With CIBERSORTx.

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets.

To Explore the Key Subgroup and Their Immune Microenvironment During the Formation of Coronary Plaque With scRNA-seq.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

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

Analysis of proteomic profiles and functional properties of human peripheral blood myeloid dendritic cells, monocyte-derived dendritic cells and the dendritic cell-like KG-1 cells reveals distinct characteristics.

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.