Jan Procházka

This study identifies RHBDL2 as a calcium-activated rhomboid protease that suppresses EGFR signaling in keratinocytes by shedding its ectodomain, thereby limiting cell migration and invasion.

This study establishes a mouse model of Experimental Autoimmune Adrenalitis (EAA) and identifies IFNG-producing CD4+ T cells as key drivers of autoimmune adrenalitis.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

The paper develops a UNet-based model for automated retinal dysplasia segmentation in mouse OCT scans, achieving high accuracy and consistency with expert annotations.

This study shows that FAM83H is essential for thymic stroma organization and T cell development, as its deficiency leads to impaired thymic architecture and reduced T cell production.

This study shows TENT5A polyadenylates enamel matrix protein mRNAs, enhancing their stability and translation, which is essential for proper enamel mineralization.

This study characterizes a mouse model with a GluN2B protein-truncating variant, showing reduced NMDAR function and moderate behavioral effects.

This study identifies TACSTD2 as a marker of early colon adenoma transition through transcriptome and methylation analysis, with validation in human and mouse models.

This study shows that Dicer{Delta}HEL1/wt mice exhibit increased endogenous siRNA levels and functional RNAi in vivo, providing a new model for studying mammalian canonical RNAi.

The paper examines CHDFIDD mouse models to show CDK13's role in facial clefts and craniofacial neurogenesis through gene expression and structural changes.

This study shows that mutations in Prpf8 in mice lead to misexpression of circRNAs and cerebellar granule neuron degeneration.

The paper investigates the role of the adipose tissue-specific lncRNA Gm15551 in BAT activation through transcriptional profiling and phenotyping, finding no significant effect on adipocyte function.

This study identifies the DExD/H helicase domain of Dicer as critical for accurate miRNA biogenesis, showing its role in substrate recognition, cleavage, and strand selection in mammals.

This study constructs a single-cell and spatial atlas of the choroid plexus in developing and adult mice, revealing cell types, regional gene expression, and cell-cell interactions.

This study identifies the MEIS-WNT5A axis as critical for the development and morphology of the fourth ventricle choroid plexus.

This study shows that plectin is essential for intestinal epithelial integrity and protects against colitis by maintaining mechanical stability and junctional function.

This study investigates immune and hematopoietic system alterations in Bardet-Biedl Syndrome patients and a mouse model, finding increased autoimmune disease incidence, elevated white blood cell counts, and B cell abnormalities.

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

This study identifies TENT5A as a cytoplasmic poly(A) polymerase essential for collagen production and bone formation, revealing its role in osteogenesis imperfecta type XVIII.