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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

open access: yesChildren, 2022
The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information
Daniel Ta   +7 more
doaj   +1 more source

THE STRATEGIES OF FOREIGNIZATION AND DOMESTICATION DURING THE TRANSLATION OF INTERNATIONAL ADVERTISING AND FILMS [PDF]

open access: yesВісник університету ім. А. Нобеля. Серія Філологічні науки, 2020
The comparative analysis of the quality of titration as a form of foreignization and duplication as a form of domestication of audiovisual materials in the modern television industry is conducted in the paper.
Ilona O. Tsarenko, Olena O. Tsarenko
doaj   +1 more source

Computed Tomography Findings in a Case of Gastric Duplication Cyst

open access: yesJournal of Integrated Health Sciences, 2022
Gastric duplication cysts comprise a rare congenital anomaly constituting 8% of total gastrointestinal tract duplications. They may be associated with complications, or may be discovered incidentally.
Siddharth Tewari, Niharika Prasad
doaj   +1 more source

Recurrent Duplication and Diversification of Acrosomal Fertilization Proteins in Abalone

open access: yesFrontiers in Cell and Developmental Biology, 2022
Reproductive proteins mediating fertilization commonly exhibit rapid sequence diversification driven by positive selection. This pattern has been observed among nearly all taxonomic groups, including mammals, invertebrates, and plants, and is remarkable ...
J. A. Carlisle   +2 more
doaj   +1 more source

Pregravid preparation as the main method of preventing undeveloped pregnancy [PDF]

open access: yesГинекология, 2018
How to make a pregravid women with the stood pregnancy in the anamnesis is the key to success in the fight against miscarriage. The testing outside of pregnancy, the identification of reasons for stopping a previous gestation, adherence to medical ...
L V Tkachenko   +3 more
doaj   +1 more source

Duplex DNA engagement and RPA oppositely regulate the DNA-unwinding rate of CMG helicase

open access: yesNature Communications, 2020
During eukaryotic chromosome replication cells utilize ring-shaped CMG helicase that separates the two strands of the DNA double helix. Here the authors reveal that CMG helicase activity is inhibited by duplex DNA engagement at the fork, which is ...
Hazal B. Kose   +4 more
doaj   +1 more source

The Putative Roles and Functions of Indel, Repetition and Duplication Events in Alphavirus Non-Structural Protein 3 Hypervariable Domain (nsP3 HVD) in Evolution, Viability and Re-Emergence

open access: yesViruses, 2021
Alphavirus non-structural proteins 1–4 (nsP1, nsP2, nsP3, and nsP4) are known to be crucial for alphavirus RNA replication and translation. To date, nsP3 has been demonstrated to mediate many virus–host protein–protein interactions in several fundamental
Nurshariza Abdullah   +8 more
doaj   +1 more source

Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice

open access: yesMolecular Genetics & Genomic Medicine, 2021
Objective This study was to report the experiences on the clinical value of noninvasive prenatal testing (NIPT) for the screening of fetal chromosomal deletions/duplications. Methods We performed a retrospective analysis of a cohort of 20,439 pregnancies
Lingshan Gou   +15 more
doaj   +1 more source

Case Report: The Association Between Chromosomal Anomalies and Cluster A Personality Disorders: The Case of Two Siblings With 16p11.2 Deletion and a Review of the Literature

open access: yesFrontiers in Psychiatry, 2021
Although several studies have shown the correlation between chromosomal rearrangements and the risk of developing psychotic disorders, such as schizophrenia, little attention has been given to identifying the genetic basis of pre-disposing personality so
Cecilia Maria Esposito   +9 more
doaj   +1 more source

Dynamics of the Eukaryotic Replicative Helicase at Lagging-Strand Protein Barriers Support the Steric Exclusion Model

open access: yesCell Reports, 2019
Summary: Progression of DNA replication depends on the ability of the replisome complex to overcome nucleoprotein barriers. During eukaryotic replication, the CMG helicase translocates along the leading-strand template and unwinds the DNA double helix ...
Hazal B. Kose   +3 more
doaj   +1 more source

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