Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases
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DOI: 10.26508/lsa.202201761
Abstract: cbNIPT by WGS and haplotype analysis predict the inherited genotypes for families with monogenic diseases and provide a potentially better solution for prenatal diagnosis of monogenic diseases. Monogenic inherited diseases are common causes of congenital… read more here.
Keywords: haplotype analysis; single cell; monogenic diseases; prenatal diagnosis ... See more keywords
Translational potential of base-editing tools for gene therapy of monogenic diseases
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Bioengineering and Biotechnology"
DOI: 10.3389/fbioe.2022.942440
Abstract: Millions of people worldwide have rare genetic diseases that are caused by various mutations in DNA sequence. Classic treatments of rare genetic diseases are often ineffective, and therefore great hopes are placed on gene-editing methods.… read more here.
Keywords: potential base; monogenic diseases; base editing; translational potential ... See more keywords
Simultaneous detection of genomic imbalance in patients receiving preimplantation genetic testing for monogenic diseases (PGT-M)
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DOI: 10.3389/fgene.2022.976131
Abstract: Background: Preimplantation genetic test for monogenic disorders (PGT-M) has been used to select genetic disease-free embryos for implantation during in vitro fertilization (IVF) treatment. However, embryos tested by PGT-M have risks of harboring chromosomal aneuploidy.… read more here.
Keywords: preimplantation genetic; genomic imbalance; pgt; monogenic diseases ... See more keywords
Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes
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DOI: 10.3390/genes13040593
Abstract: Monogenic diseases are primarily caused by mutations in a single gene; thus, they are commonly recognized as genetic disorders with the simplest mechanisms. However, recent studies have indicated that the molecular mechanisms of monogenic diseases… read more here.
Keywords: many genes; expression; monogenic diseases; regulation ... See more keywords
Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data
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DOI: 10.3390/genes14030727
Abstract: Ancient anatomically modern humans (AMHs) encountered other archaic human species, most notably Neanderthals and Denisovans, when they left Africa and spread across Europe and Asia ~60,000 years ago. They interbred with them, and modern human… read more here.
Keywords: pathogenic variants; variants associated; wide data; genome wide ... See more keywords
What Can RNA-Based Therapy Do for Monogenic Diseases?
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DOI: 10.3390/pharmaceutics15010260
Abstract: The use of RNA-based approaches to treat monogenic diseases (i.e., hereditary disorders caused by mutations in single genes) has been developed on different fronts. One approach uses small antisense oligonucleotides (ASOs) to modulate RNA processing… read more here.
Keywords: based therapy; rna based; therapy; monogenic diseases ... See more keywords