Journal: Discover Oncology

Article Title: Genetic evidence supporting obesity as a risk factor for lung squamous cell carcinoma and the identification of MFAP1 as a shared genetic target

doi: 10.1007/s12672-026-04793-9

Figure Lengend Snippet: Flowchart Overview of this MR-based study. LD linkage disequilibrium, ρ-HESS Heritability Estimation from Summary Statistics, GNOVA Genetic covariance analyser, MTAG Multi-Trait Analysis of GWAS, CPASSOC Cross Phenotype Association, GWAS Genome-wide Association Study, MR Mendelian Randomization, GSMR Generalized summary-data-based Mendelian randomization, LDSC-SEG linkage disequilibrium score regression applied to specifically expressed genes, MAGMA Multi-marker Analysis of GenoMic Annotation, SMR Summary-databased Mendelian randomization, Phe-MR phenotypes, MR BMI body mass index, LUSC squamous cell lung cancer; scRNA-seq single-cell RNA sequencing

Article Snippet: The Single-cell RNA sequencing gene expression data were available from https://www.ncbi.nlm.nih.gov/geo/ and [https://singlecell.broadinstitute.org/single_cell](https:/www.singlecell.broadinstitute.org/single_cell) .

Techniques: GWAS, Marker, Single Cell, RNA Sequencing

Journal: Discover Oncology

Article Title: Genetic evidence supporting obesity as a risk factor for lung squamous cell carcinoma and the identification of MFAP1 as a shared genetic target

doi: 10.1007/s12672-026-04793-9

Figure Lengend Snippet: Tissue- and cell type–specific enrichment of SNP heritability for BMI and LUSC. A Tissue-level SNP heritability enrichment for BMI across 53 GTEx tissues estimated using LDSC-SEG. The x-axis shows tissues grouped by organ system, and the y-axis shows the estimated enrichment coefficient (log-scaled or standardized). Tissues surpassing the significance threshold (FDR-adjusted P < 0.05) are highlighted. B Tissue-level SNP heritability enrichment for LUSC using the same LDSC-SEG framework. The x-axis indicates GTEx tissues and the y-axis indicates enrichment coefficients, as in panel ( A ). Tissues with significant enrichment (FDR-adjusted P < 0.05) are labelled, illustrating the overlap and differences in tissue-specific genetic architecture between BMI and LUSC. C – G Cell type–specific SNP heritability enrichment for BMI and LUSC across single-cell RNA sequencing datasets from brain, ileum, heart, and colon, estimated using MAGMA-based cell typing. For each tissue, the left panel shows enrichment for BMI and the right panel shows enrichment for LUSC. The y-axis lists cell types (for example, neurons, epithelial cells, eosinophils, CD8⁺ T cells), and the x-axis shows –log₁₀(P) values for the association between cell type–specific expression and SNP heritability. Cell types with P < 0.05 are indicated in red, highlighting those most strongly enriched for the genetic signal of BMI and/or LUSC. BMI body mass index, LUSC lung squamous cell carcinoma, SNP single nucleotide polymorphism, LDSC-SEG linkage disequilibrium score regression applied to specifically expressed genes, MAGMA Multi-marker Analysis of GenoMic Annotation, scRNA-seq single-cell RNA sequencing, GTEx Genotype-Tissue Expression

Article Snippet: The Single-cell RNA sequencing gene expression data were available from https://www.ncbi.nlm.nih.gov/geo/ and [https://singlecell.broadinstitute.org/single_cell](https:/www.singlecell.broadinstitute.org/single_cell) .

Techniques: Single Cell, RNA Sequencing, Expressing, Marker

Journal: bioRxiv

Article Title: Expression landscape of the genetic hearing loss protein whirlin across human tissues and cell types

doi: 10.64898/2026.03.23.713511

Figure Lengend Snippet: (A) Bar plot showing the consensus normalized transcript per million (nTPM) values of WHRN across 51 human tissues ordered by decreasing expression level. (B) nTPM values across enriched tissue groups: endocrine tissues, male reproductive system, brain and nervous system, and female reproductive system. Data were retrieved from the Human Protein Altas (HPA) consensus dataset (Supplementary Table).

Article Snippet: Normalized WHRN RNA expression data for tissues, brain, single-cell, and cell line datasets were retrieved from the Human Protein Atlas (HPA) database ( https://v25.proteinatlas.org ) and are all gathered in the Supplementary Table.

Techniques: Expressing

Journal: Communications Medicine

Article Title: Autoantibody repertoire analysis in paraneoplastic pemphigus reveals novel targets linked to mucocutaneous blistering and bronchiolitis obliterans

doi: 10.1038/s43856-025-01335-2

Figure Lengend Snippet: a Expression of paraneoplastic pemphigus (PNP) autoantigens in diffuse large B-cell lymphoma (DLBCL), follicular lymphoma, Burkitt’s lymphoma, and HIV-positive cervical cancer. The heatmap displays the proportion of samples with expression levels exceeding 10 RPKM. In addition to PNP autoantigens, the heatmap includes reference genes such as GAPDH (housekeeping gene), KRTAP4-7 (skin-specific), CD3 epsilon (T-cell-specific), and CD19 (B-cell-specific) for comparison. Tumor RNA-sequencing summary statistics were obtained from the NIH Center for Cancer Genomics and the Cancer Genome Characterization Initiative (CGCI), while RNA-seq data for normal tissues (ectocervix, endocervix, and EBV-transformed lymphocytes) were retrieved from the GTEx portal (v6p.v1.1.8). b Autoantibody signal intensities in patients with paraneoplastic pemphigus, stratified by the type of neoplasm. Autoantibodies were measured using a bead-based protein array in patients with paraneoplastic pemphigus (PNP, n = 84) and healthy controls (HC, n = 105). c The heatmap displays the proportion of samples with an autoantibody fluorescence signal >1000, categorized by the type of neoplasm group in patients with paraneoplastic pemphigus ( n = 46). Only neoplasms present in two or more patients are included. The color scale is consistent across heatmaps ( a ) and ( c ).

Article Snippet: RNA-seq expression data for healthy subjects were retrieved from the Human Protein Atlas version 23.0 ( https://www.proteinatlas.org/ ), accessed 2023-12-13 (rna_single_cell_type.tsv, and rna_single_cell_cluster_description.tsv), and the GTEx portal (v6p.v1.1.8), accessed 2022-12-05.

Techniques: Expressing, Immunopeptidomics, Comparison, RNA Sequencing, Transformation Assay, Protein Array, Fluorescence