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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 PDFClinical characteristics and outcomes of chronic obstructive pulmonary disease patients with family history of chronic airway disease.
Ann Med
December 2025
Department of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Background: Chronic Obstructive Pulmonary Disease (COPD) is a heterogeneous condition with different risk factors, including family history. This study aimed to explore association between a family history of chronic airway disease and features and outcomes of COPD.
Methods: Participants were obtained from the RealDTC study between December 2016 and December 2022.
Linking 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.
Comment on "Comparison of core temperature and mental status of two runners experiencing exertional heat stroke after a road race".
J Sci Med Sport
February 2025
School of Biological Sciences, Georgia Institute of Technology, United States of America.
Primary cutaneous/subcutaneous Ewings sarcoma.
Bull Cancer
March 2025
Pediatric Oncology, insitut Gustave-Roussy, Villejuif, France. Electronic address:
Amongst Ewing sarcoma family of tumours, (EFST), cutaneous/subcutaneous Ewing sarcoma are defined as tumours arising from cutaneous or subcutaneous tissue, not invading the underlying aponeurosis. They are rare tumours, with less than 200 patients published. They are typically small tumours (less than 5cm), and can arise at any anatomical location, with a particular tropism for distal, truncal and head/neck locations, compared to classical Ewing sarcoma.
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