RNA splicing is an essential, precisely regulated process that occurs after gene transcription and before mRNA translation, in which introns may be removed and exons, retained. Variability in splicing patterns is a major source of protein diversity from the genome and function to generate a tremendously diverse proteome from a relatively small number of genes. Changes in splice site choice can determine different effects on the encoded protein. Small changes in peptide sequence can alter ligand binding, enzymatic activity, allosteric regulation, or protein localization. Errors in splicing regulation have been implicated in a number of different disease states. This study reviewed the mechanisms of splicing and their repercussion in endocrinology, emphasizing its importance in some thyroid physiological and pathological conditions.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1590/s0004-27302009000600003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
DNMT1-driven methylation of RORA facilitates esophageal squamous cell carcinoma progression under hypoxia through SLC2A3.
J Transl Med
December 2024
Department of Thoracic Surgery, School of Clinical Medicine, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Henan University, No.7, Wei Wu Road, Jinshui District, Zhengzhou, Henan, 450003, China.
Background: The RAR-related orphan receptor alpha (RORA), a circadian clock molecule, is highly associated with anti-oncogenes. In this paper, we defined the precise action and mechanistic basis of RORA in ESCC development under hypoxia.
Methods: Expression analysis was conducted by RT-qPCR, western blotting, immunofluorescence (IF), and immunohistochemistry (IHC) assays.
A clinical analysis and literature review of eleven cases with primary pulmonary angiosarcoma.
BMC Cancer
December 2024
National Center for Respiratory Medicine, National Clinical Research Center for Respiratory Disease, State Key Laboratory of Respiratory Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510000, China.
Objective: The aim of this study is to explore the clinicopathological features, radiographic manifestations, treatment options, and prognosis of primary pulmonary angiosarcoma (PPAS).
Method: We summarized and analyzed the clinical data of 11 patients with primary pulmonary angiosarcoma treated at the First Affiliated Hospital of Guangzhou Medical University between January 2018 and January 2024. A retrospective analysis was conducted in conjunction with a review of the relevant literature.
Cystic masses of the pediatric lung: update on congenital pulmonary airway malformation and its differential diagnosis.
Virchows Arch
December 2024
Department of Pathology, Boston Children's Hospital & Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
Localized cystic lung lesions in pediatric patients encompass a spectrum of benign and rare malignant conditions that are quite distinct from cystic lung disease arising in adulthood. The majority have historically fallen under the diagnostic category of "congenital pulmonary airway malformation," a term that has been used to denote a diverse group of diseases ranging in etiology from ectopia to bronchial atresia to mosaic oncogenic mutation or neoplasia. This article reviews the clinical characteristics, gross and histologic features, and pathogenetic underpinnings of congenital pulmonary airway malformation as well as lesions that enter its histologic differential diagnosis.
View Article and Find Full Text PDFAssessment of Brain Development in Children With Congenital Diaphragmatic Hernia - an Automated Brain Segmentation Approach.
In Vivo
December 2024
Department of Neuroradiology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Background/aim: Congenital diaphragmatic hernia (CDH) is a critical condition affecting newborns, which often results in long-term morbidities, including neurodevelopmental delays, which affect cognitive, motor, and behavioral functions. These delays are believed to stem from prenatal and postnatal factors, such as impaired lung development and chronic hypoxia, which disrupt normal brain growth. Understanding the underlying mechanisms of these neurodevelopmental impairments is crucial for improving prognosis and patient outcomes, particularly as advances in treatments like ECMO have increased survival rates but also pose additional risks for neurodevelopment.
View Article and Find Full Text PDFPreoperative High FIB-4 Index and NFS Scores Predict a Reduced Incidence of Metachronous Liver Metastasis Following Pancreaticoduodenectomy.
Anticancer Res
January 2025
Department of Surgery, Fukuoka University Chikushi Hospital, Fukuoka, Japan.
Background/aim: Liver metastasis (LM), pre-dominant in pancreatic cancer, is associated with a dismal 5-year survival rate. Reports on the presence of fatty liver and liver fibrosis in LM are conflicting. Although liver biopsy is the standard diagnostic method for fibrosis, alternative, less invasive scoring models have been explored.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!