Mutations Associated with Cushing's Disease Alter Protein Structure Dynamics.

The adenomas in Cushing's disease frequently exhibit mutations in exon 14, within a binding motif for the regulatory protein 14-3-3 located between the catalytic domain (DUB), responsible for ubiquitin hydrolysis, and the WW-like domain that mediates autoinhibition, resulting in constantly active USP8. The exact molecular mechanism of deubiquitinase activity disruption in Cushing's disease remains unclear. To address this, Sanger sequencing of was performed to identify mutations in corticotropinomas.

Corrigendum: Shedding light on the mutational spectrum of uncertain significance in malignant neoplasms.

[This corrects the article DOI: 10.3389/fmolb.2024.

Shedding light on the mutational spectrum of uncertain significance in malignant neoplasms.

The Dicer protein is an indispensable player in such fundamental cell pathways as miRNA biogenesis and regulation of protein expression in a cell. Most recently, both germline and somatic mutations in have been identified in diverse types of cancers, which suggests Dicer mutations can lead to cancer progression. In addition to well-known hotspot mutations in RNAase III domains, is characterized by a wide spectrum of variants in all the functional domains; most are of uncertain significance and unstated clinical effects.

Emergence of an Auxin Sensing Domain in Plant-Associated Bacteria.

Bacteria have evolved a sophisticated array of signal transduction systems that allow them to adapt their physiology and metabolism to changing environmental conditions. Typically, these systems recognize signals through dedicated ligand binding domains (LBDs) to ultimately trigger a diversity of physiological responses. Nonetheless, an increasing number of reports reveal that signal transduction receptors also bind antagonists to inhibit responses mediated by agonists.

Towards Understanding the Pathogenicity of DROSHA Mutations in Oncohematology.

Myelodysplastic syndrome (MDS) refers to a heterogeneous group of closely related clonal hematopoietic disorders, which are characterized by accumulation of somatic mutations. The acquired mutation burden is suggested to define the pathway and consequent phenotype of the pathology. Recent studies have called attention to the role of miRNA biogenesis genes in MDS progression; in particular, the mutational pressure of the gene was determined.

Evaluating the Effect of 3'-UTR Variants in and on Their Tissue-Specific Expression by miRNA Target Prediction.

Untranslated gene regions (UTRs) play an important role in controlling gene expression. 3'-UTRs are primarily targeted by microRNA (miRNA) molecules that form complex gene regulatory networks. Cancer genomes are replete with non-coding mutations, many of which are connected to changes in tumor gene expression that accompany the development of cancer and are associated with resistance to therapy.

Identification and Characterization of a Novel Variant Associated with Osteopetrosis.

Osteopetrosis is a group of rare inheritable disorders of the skeleton characterized by increased bone density. The disease is remarkably heterogeneous in clinical presentation and often misdiagnosed. Therefore, genetic testing and molecular pathogenicity analysis are essential for precise diagnosis and new targets for preventive pharmacotherapy.