Results 11 to 20 of about 7,531,202 (384)
A review of Genetic Etiology and Emerging Molecular Therapies for FSHD in Preclinical Studies [PDF]
Reviews in Clinical Medicine, 2021 Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom.
Mohammad Reza Seyyed taghia +4 more
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Frontiers in Medicine, 2023 ObjectiveOsteoarthritis (OA) is the most common degenerative joint disease, characterized by a progressive loss of cartilage associated with synovitis and subchondral bone remodeling.
Melanie Uebelhoer +7 more
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Current Issues in Molecular Biology, 2022 RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle.
Mirjana Bjeloš +4 more
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Human Neural Stem Cells: Translational Research for Neonatal Hypoxic-Ischemic Brain Injury [PDF]
Neonatal Medicine, 2019 Neonatal hypoxic-ischemic (HI) brain injury is a major cause of neonatal mortality and long-term neurodevelopmental disabilities. Although promising neuroprotective interventions have been studied, the current management of HI brain injury has been ...
Jeong Eun Shin +4 more
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DNA Edition: ad portas of a revolution in genetic manipulation
Iatreia, 2020 In biological sciences, genetic therapy constitutes a “trend topic” since its beginning. Development of new technologies in bioengineering as zinc-finger nucleases (ZFN), Transcription activator-like effector nu-cleases (TALEN) and ...
Madariaga Perpiñán, Ithzayana +3 more
doaj +1 more source
Genetics and Therapies for GM2 Gangliosidosis [PDF]
Current Gene Therapy, 2018 Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of ...
Cachon-Gonzalez, Maria Begona +2 more
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Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa [PDF]
European Cells & Materials, 2018 The combination of gene therapy and tissue engineering is one of the most promising strategies for the treatment of recessive dystrophic epidermolysis bullosa (RDEB).
A Dakiw Piaceski +8 more
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Management of genetic diseases: Present and future
Revista de la Facultad de Medicina Humana, 2021 Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms ...
Hugo Hernán Abarca Barriga +2 more
doaj +1 more source
Signaling pathways in rheumatoid arthritis: implications for targeted therapy
Signal Transduction and Targeted Therapy, 2023 Rheumatoid arthritis (RA) is an incurable systemic autoimmune disease. Disease progression leads to joint deformity and associated loss of function, which significantly impacts the quality of life for sufferers and adds to losses in the labor force.
Qian Ding +9 more
semanticscholar +1 more source
Cellular and genetic therapies for haemophilia [PDF]
Haemophilia, 2006 Summary. Haemophilia continues to be a prime target for a variety of gene and cell‐based therapies. Pre‐clinical successes in both mouse and dog models of the disease have been documented with a variety of approaches over the past decade, and there have now been six small clinical trials of gene transfer in haemophilia.
Lillicrap, David +2 more
openaire +3 more sources