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The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.
Hemoglobin
November 2024
Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, Guangxi Zhuang Autonomous Region, China.
In southern China, α-thalassemia is the most prevalent hereditary monogenic disorder, and deletion variants are the predominant form. Conventional thalassemia diagnosis techniques are numerous, however they are all limited in their ability to detect rare deletions. Here, we discuss a family who sought genetic counseling during their fourth pregnancy after experiencing Hb Bart's hydrops fetalis in two of their previous pregnancies.
View Article and Find Full Text PDFFrom bacterial operons to gene therapy: 50 years of the journal Cell.
Cell
November 2024
Department of Biochemistry and Molecular Biophysics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA; Zuckerman Institute of Mind Brain and Behavior, Columbia University, New York, NY, USA; New York Genome Center, New York, NY, USA. Electronic address:
Recombinant DNA technology has profoundly advanced virtually every aspect of biological and medical sciences, from basic research to biotechnology. Here, I discuss conceptual connections linking fundamental discoveries that were enabled by the technology, advances in the understanding of gene regulation in both prokaryotes and eukaryotes, and the recent FDA-approved CRISPR-based gene therapy for sickle cell anemia and β-thalassemia based on transcriptional derepression.
View Article and Find Full Text PDFInsulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1) in hematological diseases.
Mol Med
September 2024
Institutes of Health Central Plains, Xinxiang Medical University, Xinxiang, 453003, China.
Article Synopsis
- IGF2BP1 is an important RNA-binding protein that enhances RNA stability and regulates gene expression, playing significant roles in both embryonic development and cancer progression.
- Research has shown its impact on cell growth and resistance to chemotherapy in tumors, as well as its relevance in blood cancers and genetic blood disorders, making it a potential target for new treatments.
- This review summarizes IGF2BP1's discovery, structure, and function, particularly in regulating fetal hemoglobin in adult blood stem cells, while also addressing its therapeutic challenges and future potential.
The CRISPR-Cas System and Clinical Applications of CRISPR-Based Gene Editing in Hematology with a Focus on Inherited Germline Predisposition to Hematologic Malignancies.
Genes (Basel)
July 2024
Molecular Oncology and Genetics, Diagnostic Laboratories, Versiti Blood Center of Wisconsin, Milwaukee, WI 53233, USA.
Clustered regularly interspaced short palindromic repeats (CRISPR)-based gene editing has begun to transform the treatment landscape of genetic diseases. The history of the discovery of CRISPR/CRISPR-associated (Cas) proteins/single-guide RNA (sgRNA)-based gene editing since the first report of repetitive sequences of unknown significance in 1987 is fascinating, highly instructive, and inspiring for future advances in medicine. The recent approval of CRISPR-Cas9-based gene therapy to treat patients with severe sickle cell anemia and transfusion-dependent β-thalassemia has renewed hope for treating other hematologic diseases, including patients with a germline predisposition to hematologic malignancies, who would benefit greatly from the development of CRISPR-inspired gene therapies.
View Article and Find Full Text PDFA Novel β-Globin Variant, Hb Odder [: C.316C > G; CD105 (Leu > Val)].
Hemoglobin
July 2024
Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
We report the discovery of a novel β-globin gene variant, Hb Odder, characterized by a single nucleotide substitution; :c.316C > G; CD105 (Leu > Val). This variant emerged incidentally during routine HbA1c measurements for diabetes monitoring.
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