AI Article Synopsis
- - A new mutation has been discovered in the α2-globin gene linked to α(+)-thalassemia, identified as a deletion of a single nucleotide (T) at amino acid residue 43.
- - This mutation is documented as HBA2:c.130delT or HBA2:c.131delT.
- - The deletion results in a frameshift, which introduces a premature termination codon at codon 47, potentially affecting protein function.
Article Abstract
We report a new mutation on the α2-globin gene causing α(+)-thalassemia (α(+)-thal) with a deletion of a single nucleotide (T) at amino acid residue 43 [HBA2:c.130delT or HBA2:c.131delT]. This frameshift deletion gives rise to a premature termination codon at codon 47.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/03630269.2012.700898 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.
J Cell Mol Med
March 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, People's Republic of China.
Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.
View Article and Find Full Text PDFMechanism of Conformational Selection of tRNA by Bacterial Deaminase TadA.
Biochemistry
March 2025
Department of Chemistry, Indian Institute of Technology Bombay, Powai, Mumbai 400076, India.
Base editing is a common mechanism by which organisms expand their genetic repertoire to access new functions. Here, we explore the mechanism of tRNA recognition in the bacterial deaminase TadA, which exclusively recognizes tRNA and converts the wobble base adenosine (A34) to inosine. We quantitatively evaluate the dynamics of tRNA binding by incorporating the fluorescent adenine analogue 2-aminopurine (2-AP) at position 34 in the wobble base of the anticodon loop.
View Article and Find Full Text PDFOMEGA-guided DNA polymerases enable random mutagenesis in a tunable window.
Trends Biotechnol
March 2025
Tidetron Bioworks Technology (Guangzhou) Co., Ltd, Guangzhou Qianxiang Bioworks Co., Ltd, Guangzhou, Guangdong 510000, PR China. Electronic address:
Targeted random mutagenesis is crucial for breeding, directed evolution, and gene function studies, yet efficient tools remain scarce. Here, we present obligate mobile element guided activity (OMEGA)-R, an innovative targeted random mutagenesis system that integrates SpyCatcher-enIscB and PolI3M-TBD-SpyTag, outperforming existing state-of-the-art technologies in key metrics, such as protein size, mutagenesis efficiency, window length, and continuity. OMEGA-R achieves a dramatic enhancement of on-target mutagenesis, reaching a rate of 1.
View Article and Find Full Text PDF[Merkel cell carcinoma: An update].
Bull Cancer
March 2025
Dermatologie, CHU de Tours, Tours, France; Réseau CARADERM, France.
Merkel cell carcinoma (MCC) is a rare skin cancer that mainly affects the elderly, and whose incidence is increasing. Although the exact origin of this cancer remains uncertain, research in recent years has revealed that MCC develops through two oncogenesis pathways: virally induced by the Merkel polyomavirus (80% of cases) and induced by mutations linked to ultraviolet rays (20% of cases). MCC is an aggressive cancer, with a high mortality rate and limited therapeutic options in advanced stage.
View Article and Find Full Text PDFAn Overview of Predictive Biomarkers and Detection Approaches for Immunotherapy Response in GI Malignancies.
J Gastroenterol Hepatol
March 2025
Department of Radiology, Yunnan Cancer Center, Yunnan Cancer Hospital, The Third Affiliated Hospital of Kunming Medical University, Kunming, China.
This review provides an in-depth exploration of the evolving role of immunotherapy in gastrointestinal (GI) cancers, with a particular focus on immune checkpoint inhibitors (ICIs) and their associated predictive biomarkers. We present a detailed analysis of established biomarkers, such as PD-L1, microsatellite instability (MSI), tumor mutational burden (TMB), and the tumor microenvironment (TME), as well as emerging biomarkers, including gut microbiota and Epstein-Barr virus (EBV). The predictive value of these biomarkers in guiding clinical decision-making and optimizing immunotherapy outcomes is thoroughly discussed.
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!