Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Background: Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare genetic multisystemic fibrosing disorder caused by FAM111B gene mutations. Given its rarity, the molecular underpinnings of POIKTMP remain elusive. FAM111B, a trypsin-like serine protease, initially studied in cancer, exhibits germline variants not consistently linked to tumours, suggesting broader functions beyond cell proliferation.

Translating the Transcriptome: A Connectomics Approach for Gene-Network Mapping and Clinical Application.

Gene expression shapes the brain's functional connectome, yet it is unclear whether genes linked to the same disorder converge on shared networks. We introduce gene network mapping-a framework combining spatial transcriptomics with normative functional connectivity to identify networks associated with gene expression. By generating -network maps, we captured distributed connectivity patterns for individual genes.

An two-hybrid system to investigate human protein-protein interactions.

The LexA- two-hybrid (LexA-E2H) system was initially developed to study interactions between microbial proteins in an ( environment. We here demonstrate its utility for studying mammalian protein interactions. Specifically, this study uses LexA-E2H to provide the first direct and quantitative validation of Glucose Regulated Protein 78 (GRP78) binding to the cleaved-Prostate Apoptosis Response 4 (cl-Par-4) tumor suppressor.

Unilateral Lung Agenesis and Left Isomerism in a Neonate: A Case Report of Multi-system Anomalies.

Unilateral agenesis of the lung (UAL) is a rare congenital anomaly resulting from the failed development of the lung bud between weeks three and seven of gestation. It is frequently associated with anomalies involving the cardiovascular, gastrointestinal, and skeletal systems. We describe a full-term male neonate who presented with severe respiratory distress and was found to have complete agenesis of the left lung, bronchus, and pulmonary artery and vein.