Results 1 to 10 of about 9,448,988 (355)

The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy

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, Ana Ćurić, Benedict Rak, Mladen Bušić, Biljana Kuzmanović Elabjer   +4 more
doaj   +1 more source

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 , Duque Restrepo, Juan Camilo, Ayala Ramírez, Paola, García Robles, Reggie   +3 more
doaj   +1 more source

The seroprevalence of neutralizing antibodies against the adeno-associated virus capsids in Japanese hemophiliacs

Molecular Therapy: Methods & Clinical Development, 2022
Adeno-associated virus (AAV) vectors are promising modalities of gene therapy to address unmet medical needs. However, anti-AAV neutralizing antibodies (NAbs) hamper the vector-mediated therapeutic effect.
Yuji Kashiwakura, Nemekhbayar Baatartsogt, Shoji Yamazaki, Azusa Nagao, Kagehiro Amano, Nobuaki Suzuki, Tadashi Matsushita, Akihiro Sawada, Satoshi Higasa, Naoya Yamasaki, Teruhisa Fujii, Taemi Ogura, Hideyuki Takedani, Masashi Taki, Takeshi Matsumoto, Jun Yamanouchi, Michio Sakai, Masako Nishikawa, Yutaka Yatomi, Koji Yada, Keiji Nogami, Ryota Watano, Takafumi Hiramoto, Morisada Hayakawa, Nobuhiko Kamoshita, Akihiro Kume, Hiroaki Mizukami, Shizukiyo Ishikawa, Yoichi Sakata, Tsukasa Ohmori   +29 more
doaj   +1 more source

In Vitro Synergistic Enhancement of Newcastle Disease Virus to 5-Fluorouracil Cytotoxicity against Tumor Cells

Biomedicines, 2016
Background: Chemotherapy is one of the antitumor therapies used worldwide in spite of its serious side effects and unsatisfactory results. Many attempts have been made to increase its activity and reduce its toxicity.
Ahmed M. Al-Shammari, Marwa I. Salman, Yahya D. Saihood, Nahi Y. Yaseen, Khansaa Raed, Hiba Kareem Shaker, Aesar Ahmed, Aseel Khalid, Ahlam Duiach   +8 more
doaj   +1 more source

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, D Larouche, K Ghani, F Bisson, S Cortez Ghio, S Larochelle, VJ Moulin, M Caruso, L Germain   +8 more
doaj   +1 more source

Beta-Ketothiolase Deficiency: A Comprehensive Review of Genetic Variants and Pathophysiology [PDF]

Annals of Child Neurology
Beta-ketothiolase deficiency (BKD) is a rare autosomal recessive disorder caused by mutations in the ACAT1 gene, also known as mitochondrial acetoacetyl-coenzyme A thiolase (MAT) deficiency.
Sohit Kashyap, Anil Kumar, Anita Choudhary, Ajay Kumar, Arvinder Wander, Anjana Munshi   +5 more
doaj   +1 more source

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis

BMC Medical Genomics, 2023
Background With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication.
Xiaorui Xie, Baojia Huang, Linjuan Su, Meiying Cai, Yuqin Chen, Xiaoqing Wu, Liangpu Xu   +6 more
doaj   +1 more source

Assessment of the frequency and association with morbidity of DNA markers in multinational administrative divisions based on indigenous population data (based on cardiovascular diseases)

Кардиоваскулярная терапия и профилактика
Information on morbidity is presented in statistical reports for the entire population of multinational subjects of Russia, but population Biobanks contain information on individual peoples.Aim.
E. V. Balanovskaya, A. Yu. Potanina, S. M. Koshel, D. S. Adamov, I. V. Evsyukov, A. L. Borisova, M. S. Pokrovskaya, A. N. Meshkov   +7 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, Zaccariotto, Eva, Cox, Timothy Martin   +2 more
openaire   +2 more sources

Cystic Fibrosis: New Trends in Therapy Methods

Архивъ внутренней медицины
This review provides information on recent advancements in the treatment of cystic fi brosis and presents interim results from ongoing clinical trials. Various scientifi c databases, including Scopus, Web of Science, and EMBASE, were utilized during the ...
P. A. Suchkova, S. A. Panova, O. Ya. Lisenko, K. P. Raevskij   +3 more
doaj   +1 more source