β-thalassemia (β-thal) is a fatal and disabling inherited blood disorder with diverse phenotypes. The same or similar genotype of β-thal can manifest variable clinical severities. It is the hotspot and emphasis in the field of hematopathy and genetic diseases to explore genetic modifiers that influence the phenotype of β-thal. This review illustrates the deteriorating and amelioratig modifiers from two aspects: genotypes of α-globin and quantitative trait locus of fetal hemoglobin (Hb F). Variations of transcription factors which reactive the γ-globin gene expression and β-globin cluster cis-acting elements were introduced emphatically. Finally, clinical applications and future development prospects of β-thal genetic modifiers are introduced by examples.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.16288/j.yczz.19-131 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Placode and neural crest origins of congenital deafness in mouse models of Waardenburg-Shah syndrome.
iScience
January 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC 29425, USA.
Mutations in the human genes encoding the endothelin ligand-receptor pair and cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. The current explanation for auditory dysfunction is defective migration of neural crest-derived melanocytes to the inner ear. We explored the role of endothelin signaling in auditory development in mice using neural crest-specific and placode-specific mutation plus related genetic resources.
View Article and Find Full Text PDFBackground: There are no disease modifying therapies for Huntington's disease (HD), a rare but fatal genetic neurodegenerative condition. To develop and test new management strategies, a better understanding of the mechanisms underlying HD progression is needed. Aberrant changes in thalamo-cortical and striato-cerebellar circuitry have been observed in asymptomatic HD, along with transient enlargement of the dentate nucleus.
View Article and Find Full Text PDFRationale: Individuals homozygous for the Alpha-1 Antitrypsin (AAT) Z allele (Pi*ZZ) exhibit heterogeneity in COPD risk. COPD occurrence in non-smokers with AAT deficiency (AATD) suggests inflammatory processes may contribute to COPD risk independently of smoking. We hypothesized that inflammatory protein biomarkers in non-AATD COPD are associated with moderate-to-severe COPD in AATD individuals, after accounting for clinical factors.
View Article and Find Full Text PDFSwine clones: potential application for animal production and animal models.
Anim Reprod
January 2025
Faculdade de Zootecnia e Engenharia de Alimentos - FZEA, Universidade de São Paulo - USP, Pirassununga, SP, Brasil.
Somatic cell nuclear transfer (SCNT), or cloning, is used to reprogram cells and generate genetically identical embryos and animals. However, the cloning process is inefficient, limiting its application to producing valuable animals. In swine, cloning is mainly utilized to produce genetically modified animals.
View Article and Find Full Text PDFThe landscape of rare mitochondrial DNA variants in sudden cardiac death: A potential role for ATP synthase.
Heliyon
January 2025
Unit of Medical Genetics, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Sudden cardiac death (SCD) is a major health concern, which can be the sign of a latent mitochondrial disease. However, mitochondrial DNA (mtDNA) contribution is largely unexplored in SCD at population level. Recently, mtDNA variants have been associated with congenital cardiopathy and higher risk of ischemic heart disease, suggesting them as potential risk factors also in SCD.
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!