This general review deals with the mechanisms which underlie the genetic factors in COPD. Many cellular and biochemical mechanisms occur in bronchial inflammation. We present the experimental models of COPD, insisting on the importance of oxydative stress, and on recent knowledge about the lung microbiome. Starting from this pathophysiology basis, we show how various genetic targets are able to interfere with the disease model. Thanks to these genetic targets, new markers in exhaled breath condensates and new drug targets are rising.
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http://dx.doi.org/10.1016/j.pneumo.2015.08.002 | DOI Listing |
Mol Ecol
January 2025
Institute of Freshwater Research, Department of Aquatic Resources (SLU Aqua), Swedish University of Agricultural Sciences, Drottningholm, Sweden.
How genetic variation contributes to adaptation at different environments is a central focus in evolutionary biology. However, most free-living species still lack a comprehensive understanding of the primary molecular mechanisms of adaptation. Here, we characterised the targets of selection associated with drastically different aquatic environments-humic and clear water-in the common freshwater fish, Eurasian perch (Perca fluviatilis).
View Article and Find Full Text PDFDev Med Child Neurol
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.
Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.
J Cosmet Dermatol
January 2025
State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.
Background: Scalp itch without evident cause is an uncomfortable symptom that annoys many people in life but lacks adequate attention in academic.
Aims: To investigate the relationship between scalp itching and microorganisms, and identify the key microbes and predicted functions associated with scalp itching, furtherly to provide useful targets for scalp itch solution.
Methods: We performed microbial comparison between 44 normal subjects and 89 subjects having scalp itching problem with un-identified origin based on 16S rRNA gene sequencing and ddPCR (digital droplet PCR), and identified itch relevant microbes and predicted functions.
Front Immunol
January 2025
Third Hospital of Shanxi Medical University, Shanxi Bethune Hospital, Shanxi Academy of Medical Sciences, Tongji Shanxi Hospital, Taiyuan, China.
Cholangiocarcinoma is the second most common primary liver cancer, and its global incidence has increased in recent years. Radical surgical resection and systemic chemotherapy have traditionally been the standard treatment options. However, the complexity of cholangiocarcinoma subtypes often presents a challenge for early diagnosis.
View Article and Find Full Text PDFFront Immunol
January 2025
The Lautenberg Center for Immunology and Cancer Research, The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Alternative splicing (AS) is a mechanism that generates translational diversity within a genome. Equally important is the dynamic adaptability of the splicing machinery, which can give preference to one isoform over others encoded by a single gene. These isoform preferences change in response to the cell's state and function.
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