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Frontiers in Oncology 2022Mammalian poly A-binding proteins (PABPs) are highly conserved multifunctional RNA-binding proteins primarily involved in the regulation of mRNA translation and...
Mammalian poly A-binding proteins (PABPs) are highly conserved multifunctional RNA-binding proteins primarily involved in the regulation of mRNA translation and stability, of which PABPC1 is considered a central regulator of cytoplasmic mRNA homing and is involved in a wide range of physiological and pathological processes by regulating almost every aspect of RNA metabolism. Alterations in its expression and function disrupt intra-tissue homeostasis and contribute to the development of various tumors. There is increasing evidence that PABPC1 is aberrantly expressed in a variety of tumor tissues and cancers such as lung, gastric, breast, liver, and esophageal cancers, and PABPC1 might be used as a potential biomarker for tumor diagnosis, treatment, and clinical application in the future. In this paper, we review the abnormal expression, functional role, and molecular mechanism of PABPC1 in tumorigenesis and provide directions for further understanding the regulatory role of PABPC1 in tumor cells.
PubMed: 36531055
DOI: 10.3389/fonc.2022.1025291 -
Autoimmunity Reviews Jun 2020Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder characterized by early onset fatal multi-system autoimmunity due...
BACKGROUND
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder characterized by early onset fatal multi-system autoimmunity due to loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor which is crucial for the development, maturation, and maintenance of CD4 regulatory T (T-reg) cells. Various autoimmune phenomena such as enteropathy, endocrinopathies, cytopenias, renal disease, and skin manifestations are characteristic findings in patients affected by IPEX syndrome.
OBJECTIVES
In this systematic review, we focus on both clinical and demographic characteristics of IPEX patients, highlighting possible genotype-phenotype correlations and address prognostic factors for disease outcome.
METHODS
We performed a literature search to systematically investigate the case reports of IPEX which were published before August 7, 2017.
RESULTS
A total of 75 articles (195 patients) were identified. All IPEX patients included had FOXP3 mutations which were most frequently located in the forkhead domain (n = 68, 34.9%) followed by the leucine-zipper domain (n = 30, 15.4%) and repressor domain (n = 36, 18.4%). Clinical manifestations were as follows: enteropathy (n = 191, 97.9%), skin manifestations (n = 121, 62.1%), endocrinopathy (n = 104, 53.3%), hematologic abnormalities (n = 75, 38.5%), infections (n = 78, 40.0%), other immune-related complications (n = 43, 22.1%), and renal involvement (n = 32, 16.4%). Enteropathic presentations (P = 0.017), eczema (P = 0.030), autoimmune hemolytic anemia (P = 0.022) and food allergy (P = 0.009) were associated with better survival, while thrombocytopenia (P = 0.034), septic shock (P = 0.045) and mutations affecting the repressor domain (P = 0.021), intron 7 (P = 0.033) or poly A sequence (P = 0.025) were associated with increased risk of death. Immunosuppressive therapy alone was significantly associated with increased cumulative survival compared to patients who received no treatment (P = 0.041).
CONCLUSIONS
We report the most comprehensive summary of demographic and clinical profiles derived from a total of 195 IPEX patients with deleterious mutations in FOXP3. Analysis of our findings provides new insights into genotype/phenotype correlations, and clinical and genetic factors associated with increased risk of death and response to treatment strategies.
Topics: Forkhead Transcription Factors; Genetic Diseases, X-Linked; Humans; Immune System Diseases; Intestinal Diseases; Mutation; Polyendocrinopathies, Autoimmune; Syndrome; T-Lymphocytes, Regulatory
PubMed: 32234571
DOI: 10.1016/j.autrev.2020.102526 -
Medicine May 2019The rapid development of bioinformatic technology is boosting the discovery of components hiding in the darkness. As a type of universal, conservative, tissue-specific...
BACKGROUND
The rapid development of bioinformatic technology is boosting the discovery of components hiding in the darkness. As a type of universal, conservative, tissue-specific and stable molecules, circular RNA (circRNA) is a class of endogenous non-coding RNA that has no 5' cap and 3' poly(A) tail and forms a covalently closed continuous loop. At present, 3 types of circRNAs including exonic circRNA (ecRNA), intronic circRNA (ciRNA), and axon-intronic circRNA have been reported. Nowadays informatic technology and high-throughput sequencing have verified the abundance of endogenous circRNAs in eukaryocytes, with predominantly expressed in the cell cytoplasm. Their unique sequences endow them with special functions, such as miRNA sponge, selective transcription or splicing, and attaching to RNA-binding proteins.
DATA SOURCES
This review was based on articles published in PubMed databases up to January, 2019, with the following keywords: "circular RNA", "database", and "reproductive tumor" (Flow chart).
OBJECTIVES
Original articles and reviews on the topics were selected.
RESULTS
Studies have uncovered the interplay between circRNAs and the development of ovarian epithelial tumors, ovarian carcinoma, and cervical carcinoma, which suggesting the potential of circRNAs as biomarkers or therapeutic targets for human diseases.
CONCLUSIONS
Circular RNA has been found to play a role in gynecological tumors diseases. Meanwhile, we reviewed the studies on how CircularRNA participate in gynecological tumors, which provides a basis for the study of CircularRNA in gynecological tumors.
Topics: Biomarkers, Tumor; Cell Movement; Cell Proliferation; Female; Gene Expression Regulation, Neoplastic; Genital Neoplasms, Female; Humans; Neoplasm Invasiveness; RNA; RNA, Circular
PubMed: 31096536
DOI: 10.1097/MD.0000000000015736 -
Tumour Biology : the Journal of the... Oct 2017The purpose of this systemic review and meta-analysis was to examine the relationship between VDR gene polymorphisms and breast cancer. Literature was searched through... (Meta-Analysis)
Meta-Analysis Review
The purpose of this systemic review and meta-analysis was to examine the relationship between VDR gene polymorphisms and breast cancer. Literature was searched through PubMed database, Google scholar, and the web of knowledge from December 2015 to January 2017 and consists of 34 studies (26,372 cases and 32,883 controls). All statistical measures were done using STATA version 11.2. The heterogeneity among studies was tested using I statistics. Mantel-Haenszel method and DerSimonian-Laird method were used to combine data from studies using both random-effect model and fixed-effect model, respectively. Potential publication bias was evaluated by Egger's test. Sensitivity analysis was also performed to evaluate the quality and consistency in results. The results of this meta-analysis revealed that VDR gene polymorphisms (Bsm1 bb vs BB; SOR = 1.18, 95% CI = 1.054-1.322, Apa1 aa vs AA; SOR = 1.18, 95% CI = 0.87-1.59, Poly (A) LL vs SS; SOR = 1.41, 95% CI = 1.06-1.88, Fok1 ff + Ff vs FF; SOR = 1.25, 95% CI = 0.896-1.759, Apa1 aa+Aa vs AA; SOR = 1.13, 95% CI = 0.95-1.35, Poly (A) LL + LS vs SS; SOR = 1.19, 95% CI = 1.00-1.43, Poly (A) L vs S; SOR = 1.18, 95% CI = 1.03-1.35) are associated with the breast cancer. Cdx2, Bgl1, and Taq1 do not show association with breast cancer. Thus, the finding of this meta-analysis concluded that VDR Bsm1, Apa1, Fok1, and Poly (A) gene polymorphisms may be susceptible for breast cancer development.
Topics: Breast Neoplasms; DNA Restriction Enzymes; Female; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Polymorphism, Genetic; Receptors, Calcitriol
PubMed: 29072133
DOI: 10.1177/1010428317731280