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Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.
Genes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFIC97, an intermediate chain of the flagellar dynein f/I1, is required for normal flagellar and cellular motility.
mSphere
December 2024
Department of Biological Sciences, Graduate School of Science, Osaka University, Osaka, Japan.
Unlabelled: Motile flagella (also called "motile cilia") play a variety of important roles in lower and higher eukaryotes, including cellular motility and fertility. Flagellar motility is driven by several species of the gigantic motor-protein complexes, flagellar dyneins, that reside within these organelles. Among the flagellar-dynein species, a hetero-dimeric dynein called "IDA f/I1" has been shown to be particularly important in controlling the flagellar waveform, and defects in this dynein species in humans cause ciliopathies such as multiple morphological abnormalities of the flagella and asthenoteratozoospermia.
View Article and Find Full Text PDFDistinct evolutionary trajectories following loss of RNA interference in .
Proc Natl Acad Sci U S A
November 2024
Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710.
Article Synopsis
- * Researchers identified clinical isolates with hypermutation due to transposition of a retrotransposon (Cnl1), driven by a mutation in an RNA interference (RNAi) component.
- * A study revealed that while some isolates lose RNAi function without triggering hypermutation, introducing RNAi loss mutations into non-hypermutator strains could induce a hypermutator phenotype, highlighting two possible evolutionary pathways following RNAi loss: either leading to hypermutation or enabling survival without it.
Gigantic Isolated Congenital Muscular Diverticulum of the Left Ventricular Outflow Tract.
Eur Heart J Cardiovasc Imaging
November 2024
Department of Echocardiography, Wuhan Asia Heart Hospital Affiliated to Wuhan University of Science and Technology. No.753 Jinghan Road, Hankou District, Wuhan 430022, P.R. China.
Genomics and evolutionary analysis of infecting viruses demarcate criteria for defining species of giant viruses.
J Virol
November 2024
Laboratório de Vírus, Departamento de Microbiologia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
Chloroviruses exhibit a close relationship with their hosts with the phenotypic aspect of their ability to form lytic plaques having primarily guided the taxonomy. However, with the isolation of viruses that are only able to complete their replication cycle in one strain of , systematic challenges emerged. In this study, we described the genomic features of 53 new chlorovirus isolates and used them to elucidate part of the evolutionary history and taxonomy of this clade.
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