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Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.
J Cell Mol Med
March 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, People's Republic of China.
Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.
View Article and Find Full Text PDFLinking epidemiology and genomics of maternal smoking during pregnancy in utero and in ageing: a population-based study using human foetuses and the UK Biobank cohort.
EBioMedicine
February 2025
Institute of Medical Sciences, School of Medicine, Medical Sciences & Nutrition, University of Aberdeen, Aberdeen, UK; Institute for Clinical Research and Systems Medicine, Health and Medical University, Potsdam, Germany.
Background: Maternal smoking and foetal exposure to nicotine and other harmful chemicals in utero remains a serious public health issue with little knowledge about the underlying genetics and consequences of maternal smoking in ageing individuals. Here, we investigated the epidemiology and genomic architecture of maternal smoking in a middle-aged population and compare the results to effects observed in the developing foetus.
Methods: In the current project, we included 351,562 participants from the UK Biobank (UKB) and estimated exposure to maternal smoking status during pregnancy through self-reporting from the UKB participants about the mother's smoking status around their birth.
In situ global mapping of protein perturbations via protein abundance and conformation analysis.
Anal Chim Acta
May 2025
State Key Laboratory of Natural Medicines, China Pharmaceutical University, No. 639 Longmian Dadao, Nanjing, 211198, China. Electronic address:
Background: Traditional studies of protein responses to external stimuli primarily focus on changes in protein abundance, often overlooking the critical role of protein conformational alterations. To address this gap, we developed Protein Abundance and Conformation Analysis (PACA), an integrative method that quantifies both protein abundance and conformational changes. PACA combines conventional quantitative proteomics for abundance measurements with Target Response Accessibility Profiling (TRAP), a technique that captures conformational changes in situ by applying reductive dimethylation to label accessible lysine residues in living cells before lysis.
View Article and Find Full Text PDFTesting AuxInYeast Synthetic Biology Strains via Fluorescence Flow Cytometry.
Cold Spring Harb Protoc
March 2025
Department of Ecology, University of Chicago, Chicago, Illinois 60637, USA.
Understanding how the auxin hormone signaling pathway components come together to orchestrate cellular responses is key to engineering the growth and development of maize. Although a variety of techniques exist to measure auxin activities in plants, many are time- and resource-intensive or do not easily allow for high-throughput quantitative measurement of component libraries. The AuxInYeast system is a synthetic biology tool that facilitates complex biochemical analysis of the auxin hormone signaling pathway from essentially any plant.
View Article and Find Full Text PDFBuilding AuxInYeast Synthetic Biology Strains for Biochemical Characterization of Maize Auxin Hormone Signaling Components.
Cold Spring Harb Protoc
March 2025
Department of Biology, Whitman College, Walla Walla, Washington 99362, USA
The AuxInYeast system is a synthetic biology tool that facilitates complex biochemical analysis of the plant auxin hormone signaling pathway. As a plant synthetic biology chassis, yeast offers rapid growth, well-established genetic and biochemical tools, and core eukaryotic cellular machinery compatible with heterologous plant gene expression. The AuxInYeast system for maize consists of yeast cells containing the minimal necessary set of plant auxin signaling parts: a receptor (ZmTIR1/AFB), repressor (ZmIAA), corepressor (REL2), transcription factor (ZmARF), and auxin response -element (auxRE).
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