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Alveolar type 2 (AT2) cells maintain lung health by acting as stem cells and producing pulmonary surfactant. AT2 dysfunction underlies many lung diseases, including interstitial lung disease (ILD), in which some inherited forms result from the mislocalization of surfactant protein C (SFTPC) variants. Lung disease modeling and dissection of the underlying mechanisms remain challenging due to complexities in deriving and maintaining human AT2 cells ex vivo.
View Article and Find Full Text PDFHealth-related quality of life and health state utility value in idiopathic pulmonary fibrosis: a systematic review and meta-analysis.
Health Qual Life Outcomes
January 2025
Department of Respiratory Diseases, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, 450003, China.
Background: Idiopathic pulmonary fibrosis (IPF) is associated with high mortality, heavy economic burden, limited treatment options and poor prognosis, and seriously affects the health-related quality of life (HRQoL) and life expectancy of patients. This systematic review and meta-analysis of HRQoL and health state utility value (HSUV) in IPF patients and the instruments used in this assessment aimed to provide information sources and data support for the future research on IPF HRQoL and HSUV.
Methods: We searched the PubMed, EMBASE, Web of Science and Cochrane Library databases for studies reporting the HRQoL or HSUV of IPF patients, with the retrieval time from the establishment of each database to April 2024.
A Survey of Fatty Acid Content of the Male Reproductive System in Mice Supplemented With Arachidonic Acid.
J Lipids
December 2024
Department of Genetic Engineering, CINVESTAV Irapuato Unit, Km 9.6 Libramiento Norte, Carretera Irapuato-León, Irapuato, Guanajuato 36824, Mexico.
Paternal exposure to high-fat diets or individual fatty acids (FAs) including arachidonic acid (AA) modifies progeny traits by poorly understood mechanisms. Specific male reproductive system FAs may be involved in paternal inheritance, as they can modify a range of cellular components, including the epigenome. Our objective was to determine FAs in compartments of the male reproductive system that potentially affect ejaculate composition-right and left testicular interstitial fluid (TIF), vesicular gland fluid (VGF), and epididymal adipose tissue (EAT)-in mice exposed to AA or vehicle daily for 10 days ( = 9-10/group).
View Article and Find Full Text PDFEight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
BMC Nephrol
December 2024
Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.
Article Synopsis
- MUC1 and UMOD pathogenic variants are linked to autosomal dominant tubulointerstitial kidney disease (ADTKD), with MUC1 associated with a significant reduction in mucin-1 production.
- A survey conducted among ADTKD patients revealed that those with ADTKD-MUC1 had a higher rate of previous COVID-19 infections and COVID-related deaths compared to ADTKD-UMOD individuals.
- The study concluded that individuals with ADTKD-MUC1 are eight times more likely to die from COVID-19, suggesting that lower mucin-1 levels may contribute to this increased risk.
Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.
medRxiv
November 2024
Basic Science and Engineering (BASE) Initiative, Stanford Children's Health, Betty Irene Moore Children's Heart Center, Stanford, CA, USA.
Congenital heart defects (CHD) arise in part due to inherited genetic variants that alter genes and noncoding regulatory elements in the human genome. These variants are thought to act during fetal development to influence the formation of different heart structures. However, identifying the genes, pathways, and cell types that mediate these effects has been challenging due to the immense diversity of cell types involved in heart development as well as the superimposed complexities of interpreting noncoding sequences.
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