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Therapeutic gene correction of HBB frameshift CD41-42 (-TCTT) deletion in human hematopoietic stem cells.
Adv Biotechnol (Singap)
January 2025
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, 510275, Guangdong, China.
Β-thalassemia is one of the global health burdens. The CD41-42 (-TCTT) mutation at HBB is the most prevalent pathogenic mutation of β-thalassemia in both China and Southeast Asia. Previous studies focused on repairing the HBB CD41-42 (-TCTT) mutation in β-thalassemia patient-specific induced pluripotent stem cells, which were subsequently differentiated into hematopoietic stem and progenitor cells (HSPCs) for transplantation.
View Article and Find Full Text PDFTargeted seed EMS mutagenesis reveals a bHLH transcription factor underlying male sterility in sorghum.
Genetics
January 2025
Donald Danforth Plant Science Center, St. Louis, MO 63132, USA.
Forward genetic screens of mutant populations are fundamental for functional genomics studies. However, isolating independent mutant alleles to molecularly identify causal genes is challenging in species recalcitrant to genetic manipulation. Here, we demonstrate that classic seed EMS mutagenesis coupled with genome sequencing can overcome this limitation in sorghum.
View Article and Find Full Text PDFDiscovery and Development of CFTR Modulators for the Treatment of Cystic Fibrosis.
J Med Chem
January 2025
AbbVie Inc., 1 North Waukegan Road, North Chicago, Illinois 60064, United States.
Cystic fibrosis (CF) is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which regulates ion and fluid transport across epithelial cells. Mutations lead to complications, with life-limiting lung disease being the most severe manifestation. Traditional treatments focused on managing symptoms, but advances in understanding CF's molecular basis led to small-molecule CFTR modulators.
View Article and Find Full Text PDFRole of interleukin-4 receptor α polymorphism in patients with asthma and its correlation with asthma severity.
Monaldi Arch Chest Dis
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Department of Respiratory Medicine, N.K.P. Salve Institute of Medical Sciences and Research Center, Lata Mangeshkar Hospital, Nagpur, Maharashtra.
Asthma is a heterogeneous disease characterized by chronic airway inflammation. It is defined by the history of respiratory symptoms such as wheeze, shortness of breath, chest tightness, and cough that vary over time and intensity, together with variable expiratory airflow limitation. A personal history or a family history of allergy is the factor most strongly associated with the development of asthma.
View Article and Find Full Text PDFNon-additive dosage-dependent effects of TaGS3 gene editing on grain size and weight in wheat.
Theor Appl Genet
January 2025
Wheat Genetics Resource Center, Kansas State University, Manhattan, KS, USA.
Loss-of-function mutations induced by CRISPR-Cas9 in the TaGS3 gene homoeologs show non-additive dosage-dependent effects on grain size and weight and have potential utility for increasing grain yield in wheat. The grain size in cereals is one of the component traits contributing to yield. Previous studies showed that loss-of-function (LOF) mutations in GS3, encoding Gγ subunit of the multimeric G protein complex, increase grain size and weight in rice.
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