We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. In the heterozygote, this allele has the phenotype of classical β-thalassemia (β-thal) minor.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/03630269.2017.1295986 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Comprehensive three-dimensional microCT and signaling analysis reveal the teratogenic effect of 2,3,7,8-tetrachlorodibenzo-p-dioxin on craniofacial bone development in mice.
Ecotoxicol Environ Saf
January 2025
Department of Stomatology, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 242, Guangji Road, Suzhou, Jiangsu Province 215000, China. Electronic address:
Exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in utero can result in osteogenic defect during palatogenesis, but the effects on other craniofacial bones and underlying mechanisms remain to be characterized. By treating pregnant mice with TCDD (40 μg/kg) at the vital craniofacial patterning stages (embryonic day 8.5, 10.
View Article and Find Full Text PDFEnhancing Miscanthus floridulus remediation of soil cadmium using Beauveria bassiana FE14: Plant growth promotion and microbial interactions.
Ecotoxicol Environ Saf
January 2025
College of Bioscience and Biotechnology, Hunan Agricultural University, Changsha 410128, China; Yuelushan Laboratory, Changsha 410125, China. Electronic address:
Soil heavy metal pollution presents substantial risks to food security and human health. This study focused on the efficiency of plant growth-promoting fungus-Beauveria bassiana FE14 and Miscanthus floridulus on the synergistic remediation of soil Cd contamination. Results revealed that B.
View Article and Find Full Text PDFComprehensive genomic and transcriptomic analyses of the anaerobic degradation of microcystin in Alcaligenes faecalis D04.
Ecotoxicol Environ Saf
January 2025
Hunan Province Key Laboratory of Typical Environmental Pollution and Health Hazards, School of Public Health, Hengyang Medical school, University of South China, Hengyang, Hunan 421001, China. Electronic address:
Microcystin LR (MC-LR) pollution is a serious threat to aquatic ecosystems and public health in China and is an environmental problem that urgently needs to be solved. However, few studies have investigated the anaerobic degradation pathway and related molecular biological mechanisms of MC-LR. In this study, a bacterium capable of degrading MC-LR with a degradation efficiency of 0.
View Article and Find Full Text PDFFrom spermatogenesis to fertilisation: the role of melatonin on ram spermatozoa.
Domest Anim Endocrinol
January 2025
BIOFITER-IUCA, Universidad de Zaragoza, Facultad de Veterinaria, Miguel Servet 177, 50013 Zaragoza, Spain. Electronic address:
This review presents recent findings on the effect of melatonin on ram spermatozoa. This hormone regulates seasonal reproduction in the ovine species through the hypothalamic-pituitary-gonadal axis, but it also exerts direct effects on spermatogenesis, seminal quality and fertility. In the testis, melatonin stimulates blood flow to this organ, but it also appears to be involved in the differentiation of spermatogonial stem cells and the secretion of testosterone through the MT1 and MT2 receptors.
View Article and Find Full Text PDFCOVID-19 Symptoms Only Minutely Influenced by Genes Among Children in a Nationwide Twin Cohort.
Pediatr Infect Dis J
January 2025
From the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Background: The World Health Organization classified coronavirus disease (COVID-19) as a pandemic by March 11, 2020. Children had a milder disease than adults, and many were asymptomatic. The pandemic could be seen as a natural experiment with several changes, including time spent at home.
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!