The Deubiquitinating enzyme, Cylindromatosis (CYLD), has been established as a crucial regulator of B-cells. The present study was addressed to identify the nature of CYLD-dependent RNomics in patients of pediatric age group with B-ALL. The study revealed the presence of a novel mutant CYLD of 55 kDa in these patients. The mutant CYLD displayed its ability to restrict the cells in G2 phase of cell cycle, down-regulate PLK-1 and block the nuclear translocation of BCL3. Based upon these results, we propose that this mutant CYLD has the capacity to act as a differential marker characteristic of B-cell lymphoblastic leukemia. Pediatr Blood Cancer 2015;62:1066-1069. © 2015 Wiley Periodicals, Inc.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pbc.25387 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A mechanism for hypoxia-induced inflammatory cell death in cancer.
Nature
November 2024
Laura and Isaac Perlmutter Cancer Center, New York University Grossman School of Medicine, NYU Langone Health, New York, NY, USA.
Article Synopsis
- Hypoxic cancer cells often resist treatments and can lead to cancer recurrence, with PTP1B deficiency promoting breast cancer cell death under low oxygen conditions via RNF213 activation.
- PTP1B and ABL1/2 interact to regulate RNF213 phosphorylation, promoting its role in degrading CYLD/SPATA2, which in turn activates NF-κB and the NLRP3 inflammasome, culminating in pyroptotic cell death.
- The findings reveal a novel PTP1B-RNF213-CYLD-SPATA2 pathway that plays a critical role in inflammatory cell death in hypoxic tumors, with broader implications for diseases like Moyamoya, inflammation, and autoimmune disorders.
Case report: Multiple facial trichoepitheliomas caused by p.Val835SerfsTer52 variant of gene.
Front Med (Lausanne)
September 2024
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.
Article Synopsis
- Brooke-Spiegler syndrome (BSS) is an autosomal dominant condition linked to a gene mutation, leading to the formation of multiple benign skin tumors known as trichoepitheliomas.
- A case study reveals a young female with a previously unknown mutation (c.2501dupC) causing this syndrome, which was confirmed through genetic testing involving her family.
- Despite surgical removal of some tumors using a CO laser, new lesions continued to emerge, suggesting that current treatments are inadequate and highlighting the need for future targeted therapies not currently available.
Cyld restrains the hyperactivation of synovial fibroblasts in inflammatory arthritis by regulating the TAK1/IKK2 signaling axis.
Cell Death Dis
August 2024
Institute for Fundamental Biomedical Research, Biomedical Sciences Research Center (BSRC) "Alexander Fleming", Vari, Greece.
TNF is a potent cytokine known for its involvement in physiology and pathology. In Rheumatoid Arthritis (RA), persistent TNF signals cause aberrant activation of synovial fibroblasts (SFs), the resident cells crucially involved in the inflammatory and destructive responses of the affected synovial membrane. However, the molecular switches that control the pathogenic activation of SFs remain poorly defined.
View Article and Find Full Text PDFA computational approach for structural and functional analyses of disease-associated mutations in the human CYLD gene.
Genomics Inform
May 2024
Department of Biotechnology and Genetic Engineering, Noakhali Science and Technology University, Noakhali, 3814, Bangladesh.
Tumor suppressor cylindromatosis protein (CYLD) regulates NF-κB and JNK signaling pathways by cleaving K63-linked poly-ubiquitin chain from its substrate molecules and thus preventing the progression of tumorigenesis and metastasis of the cancer cells. Mutations in CYLD can cause aberrant structure and abnormal functionality leading to tumor formation. In this study, we utilized several computational tools such as PANTHER, PROVEAN, PredictSNP, PolyPhen-2, PhD-SNP, PON-P2, and SIFT to find out deleterious nsSNPs.
View Article and Find Full Text PDFGenetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Alzheimers Res Ther
June 2024
Department of Neurology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Beijing, 100053, China.
Background: Our study aims to evaluate the genetic and phenotypic spectrum of Frontotemporal dementia (FTD) gene variant carriers in Chinese populations, investigate mutation frequencies, and assess the functional properties of TBK1 and OPTN variants.
Methods: Clinically diagnosed FTD patients underwent genetic analysis through exome sequencing, repeat-primed polymerase chain reaction, and Sanger sequencing. TBK1 and OPTN variants were biologically characterized in vitro using immunofluorescence, immunoprecipitation, and immunoblotting analysis.
Want 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!