Results 111 to 120 of about 44,110 (224)

Identification of novel post-transcriptional features in olfactory receptor family mRNAs. [PDF]

, 2015
Olfactory receptor (Olfr) genes comprise the largest gene family in mice. Despite their importance in olfaction, how most Olfr mRNAs are regulated remains unexplored.
Espinoza, Josh L, Ramaiah, Madhuvanthi, Shum, Eleen Y, Wilkinson, Miles F   +3 more
core   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

ACEing premature codon termination using anticodon-engineered sup-tRNA-based therapy

Molecular Therapy: Nucleic Acids, 2022
Ting-Yu Lin, Sebastian Glatt
doaj   +1 more source

Retropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease

Frontiers in Neurology
Pathogenic variants in the ATP7A gene, which encodes a transmembrane copper-transporting P-type ATPase, underlie Menkes disease, a rare X-linked recessive disorder of copper metabolism.
Mengyao Kou, Bin Ren, Mengnan Xing, Lijuan Chen, Xiangping Xu   +4 more
doaj   +1 more source

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

Molecular Medicine, 2018
Premature termination codons (PTCs) in the coding regions of mRNA lead to the incorrect termination of translation and generation of non-functional, truncated proteins.
Maciej Dabrowski, Zuzanna Bukowy-Bieryllo, Ewa Zietkiewicz   +2 more
doaj   +1 more source

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs. [PDF]

, 2017
Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better understand pathology
Carr, Amanda-Jayne F, Cheetham, Michael E, Chen, Li Li, Coffey, Peter J, da Cruz, Lyndon, J K Smart, Matthew, Moore, Anthony T, Muthiah, Manickam N, Nommiste, Britta, Powner, Michael B, R Lane, Amelia, Ramsden, Conor M, Webster, Andrew R   +12 more
core   +1 more source

A new reference genome assembly for the microcrustacean Daphnia pulex [PDF]

, 2017
Comparing genomes of closely related genotypes from populations with distinct demographic histories can help reveal the impact of effective population size on genome evolution. For this purpose, we present a high quality genome assembly of Daphnia pulex (
Ackerman, Matthew S, Asselman, Jana, Harker, Brent, Jiang, Xiaoqian, Lopez, Jacqueline, Lynch, Michael, Pfrender, Michael E, Raborn, R Taylor, Ramsdell, Jordan, Spitze, Ken, Thomas, W Kelley, Xu, Sen, Ye, Zhiqiang   +12 more
core   +3 more sources

Thirty years of glyphosate‐resistant crops and weeds: Current situation and future prospects

Pest Management Science, EarlyView.
Since 1996, when the first glyphosate‐resistant crop was commercialized and the first resistant weed was reported, resistance has expanded globally. This review analyzes emergence patterns across weed species, crops, regions, resistance mechanisms, and herbicides.
Ricardo Alcántara‐de la Cruz, Yure Marin Guidi, Mariana Ramirez‐Castillo, Fernando Storniolo Adegas, Caio Antonio Carbonari, Edivaldo Domingues Velini, Rafael De Prado, Stephen O. Duke   +7 more
wiley   +1 more source

Ataluren suppresses a premature termination codon in an MPS I-H mouse. [PDF]

J Mol Med (Berl), 2022
Wang D, Xue X, Gunn G, Du M, Siddiqui A, Weetall M, Keeling KM.   +6 more
europepmc   +1 more source

Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model

Integrative Zoology, EarlyView.
UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang, Yuehua Wang, Hang Zhang, Guiping Xu, Shixia Xu, Guang Yang   +5 more
wiley   +1 more source