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Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Proc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFExploring Developmental Connections: Sleep Patterns, Self-Locomotion, and Vocabulary Growth in Early Childhood.
Infancy
January 2025
Language and Linguistic Science Department, University of York, York, UK.
Current research indicates likely developmental connections between the evolution of sleep patterns, motor skills progression, and the expansion of vocabulary. These connections are grounded in the well-established role of sleep in memory and learning, as well as in the cascading effects on language development of the acquisition of new motor skills. However, no study has so far undertaken a comprehensive and systematic examination of these connections or explored their developmental trajectory over time.
View Article and Find Full Text PDFThe Role of WDR77 in Cancer: More Than a PRMT5 Interactor.
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January 2025
Yeshiva University, New York, NY, United States.
WD repeat domain 77 protein (WDR77), a WD-40 domain-containing protein, is a crucial regulator of cellular pathways in cancer progression. While much of the past research on WDR77 has focused on its interaction with PRMT5 in histone methylation, WDR77's regulatory functions extend beyond this pathway, influencing diverse mechanisms such as mRNA translation, chromatin assembly, cell cycle regulation, and apoptosis. WDR77 is a key regulator of cell cycle progression, regulating the transition from the G1 phase.
View Article and Find Full Text PDFApWD40a, a Member of the WD40-Repeat Protein Family, Is Crucial for Fungal Development, Toxin Synthesis, and Pathogenicity in the Ginseng Alternaria Leaf Blight Fungus .
J Fungi (Basel)
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College of Plant Protection, Jilin Agricultural University, Changchun 130118, China.
, the primary pathogen that causes ginseng Alternaria leaf blight disease, can lead to a 20-30% reduction in ginseng yield. WD40 repeat-containing proteins are evolutionarily conserved proteins with diverse functions between different organisms. In this study, we characterized the roles of a WD40 repeat-containing protein in .
View Article and Find Full Text PDFAmmonium Transporter 1 () Gene Family in Pomegranate: Genome-Wide Analysis and Expression Profiles in Response to Salt Stress.
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Department of Biology, Faculty of Sciences, Al-Baha University, Al-Baha 65729, Saudi Arabia.
Understanding the ammonium (NH) uptake and transport systems, particularly genes, is important for plant growth and defense. However, there is a lack of research on identifying and analyzing genes in pomegranate, emphasizing the need for further investigation in this area. Five genes ( to ) were identified, all of which contain the PF00909 domain, a feature of ammonium transporters.
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