Janine Altmüller

This study identifies Apold1 as a key regulator of glomerular endothelial regeneration using single-cell RNA sequencing and spatial transcriptomics in a mouse model.

The paper introduces circVDJ-seq for efficient T cell receptor profiling from single-cell and spatial multi-omics data, revealing distinct immune microenvironments and T cell clonality patterns in various clinical contexts.

This study uses human hair-bearing skin organoids to investigate HSV-1 infection and host responses, revealing cell-type-specific susceptibility and spatially organized immune reactions.

The paper identifies a basal-like subtype in esophageal adenocarcinoma associated with relapse after chemoradiation and poor survival.

The paper longitudinally analyzes wastewater viromes to track viral diversity and detect pathogens, identifying thousands of novel viral transcripts.

VoltRon is an R package for spatial omics analysis that integrates multi-resolution and multi-omics data through image registration and spatial alignment.

This study identifies somatic and germline genetic variants in 474 epileptogenic brain lesions, revealing associations with specific epilepsy subtypes and informing clinical genetic screening.

The paper introduces JACUSA2, a software framework for analyzing RNA modification data from multiple sequencing platforms and experimental conditions, demonstrating its use on m6A detection datasets.

The paper investigates the role of RNPS1 in splicing regulation and NMD by analyzing transcriptome-wide effects of its knockdowns, finding that RNPS1 primarily regulates splicing through distinct domains and interacts with splicing factors.

This study shows that UPF3A and UPF3B redundantly activate nonsense-mediated mRNA decay in human cells, with their combined depletion inhibiting NMD and upregulating substrates.

This study reports clinical and molecular findings of eight Bloom syndrome patients, identifying BLM and RMI1 mutations and highlighting phenotypic differences between BLM- and RMI1-associated cases.

This study shows that collagen XII deficiency in mice causes patella dislocation and myopathy, with altered gene expression in tenocytes and human patients showing similar patella instability.

The paper shows RNA polymerase II is necessary for spatial chromatin reorganization after mitosis, as demonstrated by Hi-C and in silico modeling.

This study shows human brain organoids can form bilateral optic vesicles with cellular diversity and functionality, including light-responsive photoreceptors and neuronal networks.

The paper reveals that SMG5-SMG7 and SMG6 work in a coordinated, hierarchical manner in NMD, with SMG5-SMG7 enabling SMG6 activity through UPF1 phosphorylation and heterodimer formation.

This study identifies HMGB1 as an RNA-binding protein that coordinates chromatin folding and RNA homeostasis in senescence through interactions with other RBPs and regulation of SASP-related transcripts.

This paper introduces Swarm Learning, a decentralized machine learning approach for disease classification using transcriptomic data, demonstrating its effectiveness in developing classifiers for COVID-19, tuberculosis, and leukemias while preserving privacy.

ScNapBar enables accurate cell barcode assignment for Nanopore single cell RNA sequencing by combining UMI and Naive Bayes approaches, distinguishing cell populations with active or silenced nonsense-mediated decay.

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.

This study shows XAB2 interacts with ERCC1-XPF and XPG to process RNA-loops during mammalian development, linking splicing and DNA repair.

This study shows that CASC3 enhances NMD by linking the EJC to the NMD machinery, leading to increased degradation of NMD-targeted mRNAs.

The paper shows ERCC1-XPF interacts with TOP IIβ to repair transcription-induced DNA breaks, explaining clinical heterogeneity in related disorders.

The paper identifies HMGB2 loss as an early event in senescence that disrupts chromatin organization by inducing CTCF clustering across multiple human cell types.